The National quarterly Foundation · cure, and 4) keeping the Fragile X community always...

quarterlyThe National Fragile X Foundation

A Journal for Families and Professionals

Inside:

columns

Readers Respond... 1

From the Executive Director 2 Being Fair

Public Policy Update 3 It’s Time to TEAM Up for Our Kids

Braden on Behavior 4 Navigating the Road to Inclusion

Support 6 Guardianship for Your Child

Fragile X syndrome (FXs)

Sleep in Children With Fragile X Syndrome: 8 A Bio-Psycho-Social Approach

Cover Story 12 Married...With (Fragile X) Children

Therapy In Action 14 Doggone It, Mantras Are Great for Learning!!

research, reports and announcements

Focus on Volunteers 10 Four Who (Continue to) Step Up

mGluR5: A Primer 16

Employment First! 18 NFXF Joins Growing Chorus on Job Rights for People With Disabilities

Focus on ‘Fun’draising 22 Spring Fragile X Fundraising Fun

New Board Members 24

Issue 41 n June 2011

With(Fragile X) Children

Pg. 12

Employment First! Self-Determination Movement Gains Traction

Pg. 18

Join Us in Celebrating!See page 23

What Is Fragile X?The term “Fragile X” represents a group of genetic

disorders, referred to as “Fragile X-associated

Disorders,” that have a variety of impacts on affected

individuals and their families. The disorders include: n Fragile X syndrome (FXS)—Caused by the

full mutation of the Fragile X gene, FXS is the most

common cause of inherited mental impairment.

Its effects range from learning disabilities to severe

mental retardation and autism. Symptoms often

include unique physical characteristics, behavioral

disorders, and delays in speech and language

development. n Fragile X-associated tremor/ataxia syndrome

(FXTAS)—A condition affecting some male (and

in rare cases, female) carriers of the premutation

over age 50, causing balance, tremor and memory

problems. nFragile X-associated primary ovarian insuffi-

ciency (FXPOI, or early menopause)—A condition

affecting some female carriers of the premutation.

Fragile X can be passed on in a family by

individuals with no apparent sign of the condition.

In some families, multiple generations are affected,

while in others, it may cause problems in only one

person.

Since 1984, The National Fragile X Foundation

(NFXF) has been helping individuals with Fragile X,

their families, and the professionals who work with

them. As research into Fragile X continues, our

understanding of who it affects and how it affects

them will grow. The NFXF is committed to:

1) supporting and funding all efforts that will increase

awareness, 2) improving education, 3) advancing

research toward improved treatments and an ultimate

cure, and 4) keeping the Fragile X community always

well-informed about the progress of these efforts.

PO Box 37 n Walnut Creek, California 94597

Phone: (925) 938-9300 Email: [email protected]

Toll free: (800) 688-8765 Web: www.FragileX.org

Fax: (925) 938-9315

the nFXF staFF:Robert Miller Executive Director

Liane Abrams, MS, CGC Genetic Specialist

Phil Campbell Administrative & Program Assistant

Jeffrey Cohen Director of Government Affairs & Advocacy

Sam Jacob Assistant Shipping Clerk

Teddy Palmer

Database Specialist

services offered:

Telephone consultation and basic informational packet—free

Educational resources (books, videotapes, CD)—fee

Local, national, and international conference sponsorship

Referral to medical, genetic and support services—free

Legislative advocacy

Research grants

Membership with quarterly journal—fee

services offered to:

Individuals, families, professionals, institutions, and students

involved with or impacted by Fragile X

service referral: Self or professional

eligibility: All

service area: National and international

dues-paying members: Over 1,100

phone, email and postal contacts: Approximately 10,000 annually

unique Website Visitors: Over 600,000 annually

Founded: 1984 as a public non-profit 501(c)(3) charitable organization

Federal tax id number: 84-0960471

Funding: Individual contributions, family and corporate foundations,

government grants

mission statementThe National Fragile X Foundation unites the Fragile X community to:n Enrich lives through educational and emotional supportn Promote public and professional awarenessn Advance research toward improved treatments and a cure

for Fragile X.

The Fragile X Quarterly is published four times annually

by The National Fragile X Foundation. The journal is

distributed to members and others by request. Please

contact the foundation regarding content or distribution.

Managing Editor: Andrew Hidas

[email protected]

Executive Editor: Robert Miller

Contributing Editor: Linda Sorensen

Design: Karen Ashton

Joshua Prasad Shipping Clerk

David Salomon Meeting & Technology Coordinator

Linda Sorensen, MS Associate Director

Meghan McMurray Development Coordinator

Jayne Dixon Weber

Coordinator of Support Services

The National Fragile X Foundation

1 The National Fragile X Foundation Quarterly Issue 41 n June 2011

quarterlyThe National Fragile X Foundation

readers respond…

Thank you for your recent article by Carly Heyman

(“Living With FXPOI,” March, 2011), which highlighted her

experience with FXPOI and the effect it has had on her life.

As a 33-year-old woman with FXPOI, I understand completely

the author’s struggles and appreciate her honesty.

It is easy to think of FXPOI as the “least problematic”

effect of FX, because it is something that is not obvious,

nor outwardly debilitating, nor easily discussed in everyday

conversation. However, its impact is tremendous: not only do

sufferers usually lose the ability to have a genetic child, as I did,

but they are riddled with the symptoms of menopause at a very

young age. This goes a long way to degrade one’s quality of

life, especially if the FXPOI is not diagnosed or is not properly

managed. And that said, once it is diagnosed, it is quite

difficult to find doctors who are a) familiar with it, b) willing

to think critically about it, c) sensitive to its unique issues and

challenges, and d) knowledgeable about how to approach

its treatment. In today’s world of controversy over hormone

replacement therapy, the answers are not always so cut-and-

dried, which makes knowledgeable and committed doctors

even more of an essential resource. Sadly, they are very few

and far between.

As I imagine is the case for most women with FXPOI,

I did not get a diagnosis until I tried to conceive on my own.

And even once I got a diagnosis (POF), I did not get an

explanation (due to my FX premutation) until I sought out a

doctor who knew something about ovarian failure in general.

I hope that as your organization moves forward with its efforts

to educate the public and the medical community, to support

relevant research, and to advocate for those of us impacted by

FX, this will change and knowledgeable doctors will become

a dime a dozen. In the meantime, I am heartened by stories

like Ms. Heyman’s, which bring this often-overlooked and,

in my opinion, under-diagnosed problem out of the closet of

shame and taboo and into the light of research, optimism and

acceptance.

My hope is that Ms. Heyman will be able to one day

conceive via egg donation (as I did), adopt, or find her child

in another way, because she is right—FX is a part of us, but it

is not us. We need to work around it to achieve our goals of

parenting and to work with it to live the active, healthy lives

we deserve.

Abby Stillman Grayson

Belle Mead, NJ

Thank you, Robert Miller, for your column (“Things You

May Already Know”) in the March, 2011 Quarterly (No. 40).

It made me tearful to hear the encouraging words that I need to

listen to the experts but that I know my child best, and I am his

expert. Also, that our children are lifelong learners. It can be so

discouraging as a parent when so many don’t believe in your

child (especially during this time with IEP annual reviews).

Thank you for your work with Fragile X. You are appreciated!

Ginger Stringer

Colorado Springs, CO

Last week I received the link for the latest Fragile X

Quarterly and I must say I was very impressed with Robert

Miller’s column (“Things You May Already Know,” March,

2011). It made so much sense and is just so practical and

applicable. His insight is something I can re-read in times of

confusion. It surely gave me a lot of clarity. Thank you.

Shakini N. Kedia

Fragile X Society, Mumbai, India

We get many thoughtful letters from readers affected by something they read in the Fragile X Quarterly. So it is a pleasure to finally

act on our long-held intention to institute a Letters section so those voices can be shared with a larger audience, and the dialogue on

all things Fragile X can continue to enrich us all. Please: if you are intrigued, inspired, concerned, confused, overjoyed, or otherwise

moved by something in these pages, we urge you not to stuff the feeling away or confine conversation about it to your spouse or

friend. Instead, dash off an email to [email protected], or do it the old-fashioned-but-still-viable way of snail-mailing a note to:

Editor, Fragile X Quarterly, 1615 Bonanza Street, Suite 202, Walnut Creek, CA 94596.

—Andrew Hidas

Managing Editor

2 Issue 41 n June 2011 The National Fragile X Foundation Quarterly

Being Fair

From the eXecutiVe director robert miller

e all talk about being fair. We

encourage our children, our political

leaders and many others to be fair.

We probably all have a pretty good sense of what we mean by

“fair” when we say it ourselves, but our perspectives may not

always be so self-evident to others. So it is important that we be

clear about our notions of fairness, especially since fairness has

always been, and is becoming more so, an issue in the world of

Fragile X.

It’s a new era in Fragile X, and things are getting

complicated. Multiple universities, pharmaceutical companies,

diagnostic companies and others, from both the for-profit and

non-profits worlds, are becoming involved in the field. Each

brings different capabilities and interests to the table, but each is

also interested in improving the lives of families. Make no

mistake: this is great news, and most all of the new challenges

that the involvement of these parties presents to the NFXF are

great challenges to have. That said, sorting out the interests,

influences and priorities of all these parties and their relation to

our foundation and families makes the issue of fairness more

important than ever.

To address these new challenges, the NFXF is putting

policies and procedures into place to help ensure that we treat

all parties fairly and keep the needs of the Fragile X community

of families front and center in our decision-making process.

That is why we now have an ethics committee that will advise

the board and staff. The committee is comprised of professionals

from both inside and outside the organization, and it includes

parents and those without children. We also have a corporate

advisory council, with representatives from pharmaceutical and

diagnostic companies, and our scientific & clinical advisory

committee has been subdivided into five new subcommittees so

that they can better focus their advice. Each of the above is an

important participant in the future of Fragile X treatment.

I share all of this with you because I want you to know

that the NFXF is always moving forward and doing its best

to anticipate change and adjust our goals and procedures

accordingly. That’s why we update our strategic plan annually

and why all major decisions are reviewed by board committees

before being brought to the full board.

Fairness takes on increasing importance through the life

cycle of individuals with fragile X syndrome. Parents work hard

to assure their children’s equal access in the school setting, and

as the children mature toward adulthood, it is equally important

that fair and equal access and sup-

ports are in place to maximize their

opportunities for taking part in the

everyday world of home, community

and work. This issue cuts right to

the core of fairness. Many years ago

(35 to be exact), we committed as

a nation to fairness for all children

with special needs. Please read

Serena Lowe’s article on page 18 to

better understand how we are now

going to get to a better and more

fair world for adults.

Finally, what is more fair than

ensuring equal access to the latest

treatments by professionals knowl-

edgeable about best practices for

Fragile X-associated Disorders?

That’s why I am very pleased to tell you that two new clinics

(Dallas and Houston, Texas) have been admitted into the

Fragile X Clinical & Research Consortium and that another eight

will likely be submitting applications this year. While geographic

access is only part of the fairness equation, it’s a critical part.

(Visit “Clinics” at www.FragileX.org to view all member clinics.)

So as the NFXF moves forward, we’ll continue to strive,

on your behalf, to do the right thing, the best thing and the fair

thing. Fair enough? n

The author has been executive director of the NFXF since 1999.

Email: [email protected]

W

The NFXF is putting policies and

procedures into place to help ensure

that we treat all parties fairly and keep the needs of the Fragile X community of families front and center in our decision-

making process.


It’s Time to TEAM Up for Our Kids

public policy update J. brad Whitus

keep telling myself that I remember

high school like it was yesterday…but

maybe that’s just amateur psychology

to convince myself I’m still young. That psychological sleight-of-

hand is becoming less and less effective—or believable—as one

of my own puts high school in her rearview mirror as this issue

goes to print. Notwithstanding her full mutation, Kenney, helped

along by a bunch of tutoring and late nights, will graduate near

the top quarter of her class. More exciting (or scary), she has

been accepted to Western Kentucky University’s music school,

and with the support of WKU’s Kelly Autism Program, will

work toward a bachelor’s degree in music education.

Barring a medical breakthrough from our incredible

community of Fragile X researchers, which I am certainly not

counting out, her younger sister, Christy, won’t have that same

opportunity. She will face that proverbial “cliff” so many of our

children face after high school, when the supports and programs

we fought so hard for with school administrators abruptly come

to an end.

Students with significant disabilities often leave high school

unprepared and without the supports in place to find and

maintain employment or pursue secondary education. While the

Individuals with Disabilities in Education Act (IDEA) requires

schools to provide transitional services for students through

high school, there is no enforcement, monitoring or evaluations

making sure they are effective. Instead, students leave the school

system unprepared for adulthood, often lacking the guidance

and skills to search for a job with a salary to support a self-

sufficient lifestyle.

Our champion in Washington, Gregg Harper (R-MS), has

faced that cliff in his own family. To our great fortune and like

no others before, Congressman Harper has the unique combi-

nation of being in a position to initiate change, and a vision to

define that change with insight, compassion, and responsibility.

To address the numerous systemic barriers and better

promote the advancement of youth with significant disabilities

transitioning to adulthood, Congressman Harper, together with

Cathy McMorris-Rodgers (R-WA), Gerry Connolly

(D-VA), and our new FX Caucus Co-Chair, Eliot Engel (D-NY),

introduced a comprehensive package of legislation known as the

Transitioning towards Excellence & Achievement in Mobility

(TEAM) Acts. Filed just in time to include in our Advocacy Day

2011 agenda, the TEAM legislation consists of a coordinated

trio of bills, all focused on realigning the goals of the federal

government to meaningfully support youth with significant dis-

abilities as they transition from the educational setting toward

integrated employment within their communities.

“In order for individuals living with intellectual and

developmental disabilities to reach their maximum potential,

Congress must enact a systems change,” said Harper.

“The current federal disability laws are hopelessly outdated and

will ultimately lead to unemployment and poverty for

these children.”n The TEAM-Education Act (H.R. 602) amends the

Individuals with Disabilities Education Act by:

1. Requiring transition components to be included in

Individual Education Plans (IEPs) for all IDEA-

eligible students at the age of 14;

2. Expanding the definition of transition services to

include customized employment strategies and self-

determination activities;

3. Clarifying that local education authorities can use

discretionary dollars to bring in transition expertise

or contract out transition services. Disability

advocates are now pushing to include many of the

provisions outlined in the TEAM-Education Act in a

reauthorization of the Elementary and Secondary

Education Act (ESEA) in the 112th Congress.n The TEAM-Employment Act (H.R. 603) amends the

Rehabilitation Act to realign preferred outcomes for

individuals with significant disabilities, and streamlines

public funding by requiring vocational rehabilitation

systems to actively engage with other state entities. The bill

I

continued on page 25


Navigating the Road to Inclusion

braden on behaVior marcia braden, phd

ncluding special needs children in

general education classes is grounded

in special education law. But however sound the theory and

purposeful the law, having special needs students successfully

included with typical peers often eludes reality.

The momentum to include students with FXS in the

general education mainstream grew out of the Individuals with

Disabilities Education Act (IDEA). The assertion that children

with disabilities had a civil right to attend school in their home

school setting grew out of Civil Rights litigation. The emphasis

to include students with FXS in general education classrooms

has been noted throughout the literature. Perhaps the impetus

for this movement comes from the fact that children with FXS

have a considerable interest in people—one of the hallmarks of

this population is a strong desire to interact socially. This often

makes inclusion more viable and increases the success rate.

It is important to remember, however, that levels of

affectedness vary from one individual to another, and placement

options must include enough flexibility to meet individual needs.

There are occasions when inclusion can wind up being restrictive

to children with severe needs.

Symons, Clark and Roberts, 2001 studied the classroom

engagement of elementary school children with FXS and

determined that the engagement was strongly related to the

environmental and instructional quality propagated by the

teachers and classroom. How the teachers structured and

arranged the classroom environment was much more important

to student engagement than were specific aspects of the child’s

Fragile X status, medication use or dual diagnosis. This research

clearly defines a number of environmental and instructional

factors that are important when choosing a general education

classroom.

Successful inclusion cannot be accomplished without a

systematic, sequential process. Just placing the student with

FXS in a general education classroom with a para-professional

close by does not necessarily constitute success. Likewise, the

mere placement or proximity to typical peers is insufficient in

achieving an appropriate education for students with FXS. In

order to design effective outcomes, the parents and school team

need to define the purpose of the inclusion. In other words, there

needs to be a reason for the student to be included. Otherwise,

the time spent in the general education classroom may reduce

the time needed for other services that are often equally or more

important to the child’s individual educational needs. The chart

that follows defines a number of the necessary supports given

specific targeted outcomes associated with the inclusion of an

individual with FXS.

I

FXS

OUTCOME

Social

NECESSARY SUPPORTS

• Viable peer group

• Social facilitator

• Flexible setting

• Opportunities for natural contexts

Behavioral • Appropriate role models

• Structured and predictable schedule

• Cooperative learning opportunities

• Organized classroom

Academic • Specialized instruction

• High interest content

• Enrichment opportunities

• Emphasis on visual presentation

• Opportunities for priming

or pre-teaching

• Collaboration between SpecEd

and general education staff

Vocational/

Prevocational

• Viable work models

• Positive work environments

• Flexible breaks

• Consistent staff


After the desired outcome is established, the team needs to

design certain strategies to assist the student to be successful in

the general education classroom. If the student outcome aims

for participation in the general education curriculum, it is often

important to prime or pre-teach certain concepts or lessons

beforehand. Collaboration between the special education and

general education staff is critical to accomplish this level of

coordination. When effectively done, this priming will help

link individual instruction into larger group activities. This can

also be effective when the desired outcome is to increase social

interactions with typical peers.

The level of prompting and facilitation should be

determined based on the need of the individual. It is always

best to use the least intrusive level of facilitation as possible.

The student’s behavior and level of participation will dictate

the need for more or less teacher or para-professional support.

Because children with FXS respond better to visual input,

effective prompting can often include visual schedules or icons.

This enables the student to participate with less dependency on

the attending adult. In addition, it is best to have the classroom

teacher responsible for redirection and facilitation because that

is most like what is done for typical peers. Classroom rules

and behavioral expectations should be the same for students

with FXS unless there is a Behavior Intervention Plan (BIP) in

place, which usually defines certain behavioral characteristics

to be a manifestation of the disability. In those cases, special

considerations are required.

Transitions can be difficult for students with FXS, and they

are very common in the general education setting. Providing a

predictable schedule with visual supports is important. If the

student is aware of the change ahead of time, the element of

surprise is eliminated. In addition to providing a visual schedule

and other structured strategies, teachers can use using a less

direct approach such as side dialoguing among the adults in

the classroom to alert the student to pending changes. (“So

Ms. Johnson, it looks like we’ll be ready to dismiss the students

for lunch in five minutes.”)

It is often prudent to afford the student with FXS an

opportunity to carry equipment from the gym back to the

classroom or assign him or her some particular job to complete

as part of the transition time. This may help lessen the anxiety

associated with the change.

Recently, after observing several special needs students

in their included environments, I was struck by the poorly

planned execution of their inclusion. Each had a para-

professional in close proximity, tending to the student as if the

para-professionals were teaching a class within a class. The

tutorial relationship between the student and para-professional

precluded those with FXS from being able to participate in

the natural interaction within the general education class.

In one setting, the students were grouped in sets of four and

the students with FXS sat at their own table with two para-

professionals and no general education peers. The obvious

question was: How does this qualify as inclusion? Inclusion

is not “making students with FXS look typical”; it is instead

helping students with FXS bring their own unique qualities into

the general education classroom, with full access and acceptance,

to the benefit of all. Hopefully, with good planning and emphasis

on desired outcomes, the intent of IDEA will continue to bloom

into positive and fulfilling experiences for students with FXS—

and for those with whom they share a learning environment. n

The author is a psychologist and special education

consultant in Colorado Springs who specializes in Fragile X.

She is the author of Fragile: Handle With Care, and creator

of the Logo® Reading System.

Contact: http://[email protected]


t the age of 18, children become

legal adults, which means the parents

are no longer their legal guardians,

even if the children have disabilities. In order to continue helping

their children take care of themselves, make decisions in the

children’s own best interests, and handle their assets, parents

have to initiate a process of assuming legal guardianship of their

adult children. My husband and I recently went through this

experience with our son Ian.

Arranging guardianship for Ian was not as bad or as

difficult as I thought it would be. Here is the approach my

husband and I used, turned into a series of guidelines for you

to consider. (My disclaimer: We are not attorneys and do not

pretend to be. This is what worked in our state and in our city—

Boulder, Colorado, earlier this year. Some or all of the guidelines

below may differ in your own jurisdiction.)

1. Gather information. Call your local Arc or your local

disability office to see if they offer classes on guardianship.

Also, talk to any friends who have gone through the

process. You can also search for your state-specific

information on the Internet. Search for “guardianship (your

state).” Every state is different.

2. Ensure you have a complete set of the latest forms. You can

go down to your local courthouse and pay for the forms or

you can download them from the Internet.

3. Get a handbook or some kind of guidelines that lay out the

process and responsibilities of all the parties in your state.

This will help you and it will help you help your child.

4. Call your local courthouse to see if there is access to free

attorney time. You might not need it, but it is nice to know

if it is available.

5. Begin filling out the forms and use some sticky notes for

places where you have questions. Then if you take it to the

attorney, you can go right to your questions.

6. Complete the forms. Note that some must be notarized and

there are timelines for distributing copies to “interested par-

ties.” (This is in case someone “objects” to your guardianship.)

7. Turn in the forms at your county courthouse (keep a copy

for yourself). You’ll pay a filing fee (we paid $175) and you

may have the option of purchasing copies of the approved

guardian papers (we bought two at $25 each).

8. Prepare for a court visitor who contacts you soon after

filing. This person comes to your home to meet you, your

spouse if you have one, and your child. If your child lives

with a care provider elsewhere, the visitor will go there, too.

When the visitor called we asked what kinds of questions she

would ask. She said they would be about what Ian does during

the day, and about us becoming his guardians. When I said I

didn’t think he would understand the part about guardians,

she said she might ask, “Do you want your mom and dad to

keep helping you make decisions?”

9. Prepare your child for the visitor. Tell your child there is

a process that parents have to complete in order to keep

helping their children. Then ask, “Do you want your mom

and dad to keep helping you make decisions?” When he

says yes, tell him a person is coming who will ask that

question (or something like it). Say: “If you want us to keep

helping you then tell her yes.”

10. When the court visitor comes, he or she will ask you

why your child needs a guardian. Let’s see: for help with

things like getting up in the morning, personal hygiene,

wearing appropriate clothes, getting to/from work, money

management, making/attending medical appointments,

taking medications, getting to activities, and the fact that

reminders are needed for almost everything. The visitor may

also ask, “Why should you be guardians and not someone

else?” I summed it up this way: “We know him better than

anyone else and love him more than anyone else and want

the absolute best for him.”

11. You might ask the court visitor about getting your child’s

case early on the docket. The visitor should have the name

and phone number of the judge’s clerk. Call and tell the

clerk that your child has a disability (we mentioned anxiety

Guardianship for Your Child

support Jayne dixon Weber

A

FXS


and pacing) and that you would appreciate it if your case

could be early on the docket.

12. Make sure you send out the notices/paperwork required to

all “interested parties.” There is a deadline.

13. Prepare your child for the court visit. These are some things you

might want to mention, maybe a day or two in advance: n We all have to go to court—you, Mom, and Dad—to

see a judge, who will ask, “Do you want your parents

to keep helping you make decisions?” You will want to

answer “yes.”n At the courthouse, you have to go through security like at

the airport.n You will then go to the courtroom. There will probably

be other people there, doing the same thing you are.n You have seen courtrooms on television—they pretty

much look like that.n Right before the session starts, a person will come in

and say, “All rise.” Everyone stands up. Then the judge

walks in right after that and says, “Please be seated.”

Then everyone sits down. The judge could be a man or a

woman.n The judge will have a black robe on. The judge does have

regular clothes on under the robe. n The judge will call your name because the case is in your

name. You’ll walk with Mom and Dad to the front of the

courtroom. The judge will ask the names of the parents.

Then she will ask you the question about us helping you

make decisions. The judge will say that all the paperwork

looks to be in order and then sign the approval. We

will pick up the paperwork and everyone can leave the

courtroom. And it will be done.

14. An annual report has to be filed. You will be given a date,

for which you will not receive a reminder. It is similar to

what is on the application, the purpose is to see if there are

any changes in your child’s life. You can mail or turn it into

the courthouse.

You are now the guardians of your child. Others have

recommended to me that I carry an original of the guardianship

papers wherever I go. Keep a copy in your car and always take a

copy when you travel.

Those are the basics. Now for part of our story:

Ian arrives home the day after the court visitor comes to

our house and says, “Jack (Ian’s provider) says I have to go to

court.” We had not told Ian about the court part yet.

“Yeah you do,” I said, “but we all have to go—you and

me and Dad. It’s no big deal. We go in a room and there will be

a person called a judge and the judge will ask you if you want

your mom and dad to keep helping you and you will say yes and

we will be done.”

Ian says, “What’s the court

look like? Like any other room?”

I’m not sure where he’s going with

this so I say, “Uh, yeah, pretty

much like any other room.” And

he says, “What does the judge

wear? Just regular clothes?”

“Uh, yeah, I think regular

clothes. Why?”

“Because I’m not going,“

he says.

We are a week out at this

point. I cannot believe his care

provider told him about the court this far out, because I know

Ian is not just going to worry about it, he is going to WORRY

about it. Every day for the next few days, I hear, “I’m not going

to court.” And he walks off.

The afternoon before the court date, Ian stomps down the

steps in our house and announces more distinctly than I have

heard before, “ I AM NOT GOING TO COURT!”

“Ian, it’s really not a big deal.”

“I’M NOT GOING.” Then he throws his glasses across the

room. “Ian,” I start to say.

“I’M NOT GOING.” His cell phone flies across the room.

Calmly, but quickly, I say, “Ian…tell me why you don’t want to

go to court?”

His voice becomes very sad. It starts to crack as he says,

“Because I don’t want to go to jail.”

I stop, feeling that wave of “Oh wow” rush over me, and

then every court scene Ian has ever seen on television runs

through my mind—you know, the scenes where a person goes to

court and then goes to jail. And ever so slowly I say, “Ian, you

do not have to go to jail. You will never have to go to jail. This

court is different. I promise.”

Ian walked out of the courtroom the next day, gave me a big

smile and said, “Mom, I did it.” I smiled back, “Yes, you did.”

Good luck and let me know how it goes! n

The author is the support services coordinator for the NFXF.

Send your questions to her at: [email protected]

The afternoon before the court date,

Ian stomps down the steps in our house

and announces more distinctly than I

have heard before, “I AM NOT GOING

TO COURT!’”


leep is a universal behavior among mammals, birds, and

reptiles. Even blue-green algae have biological clocks. Although

sleep patterns, habits, postures and habitats differ among

species, sleep is basic to life. The purpose of this article is to

highlight the complex interactions involved in sleep and to

encourage a thorough approach to behaviors causing sleep

problems in children with fragile X syndrome.

In the animal kingdom, safety and survival needs

underscore many adaptations to sleep. For example, birds often

sleep with one eye open during non-rapid eye movement sleep

(NREM) so they can be aware of

potential threats and be able to fly for

great distances. Newborn dolphins

swim along their mothers and are able

to rest half of their brains by keeping

one eye open towards her and the

other closed. Typically, lab rats live for

two to three years, but when deprived

of rapid eye movement (REM) sleep

they survive an average of five months.

If deprived of all sleep they survive only three weeks.

We are only beginning to recognize the safety and social

constructs of sleep inherent in each of us. The power of social

belonging and our vigilance system are mechanisms that have

naturally restricted sleep to a perceived safe environment. Since

sleep and vigilance are opposing processes, the tension between

the two has practical relevance throughout development. This is

especially so in children with FXS, who are hyper-vigilant and

sensitive to environmental stimuli and changes. Loss of sleep

can affect virtually all physiological functioning and behavioral

regulation, including memory and attention, complex thinking,

motor responses, and emotional control. Given that individuals

with FXS tend to have an already compromised nervous system,

optimum sleep is essential to their functioning.

In a national survey, parents of children with FXS reported

that 32 percent of their children have current sleep problems

(Kronk, et al, 2010). Delayed sleep onset and frequent nighttime

awakenings were the most highly reported difficulties for all

age groups and both genders.

Waking up too early was ranked

next highest for males, followed

by restless sleep in both genders.

Children with more problematic

health or behavioral characteristics

(i.e. inability to interact, listen,

adapt) had a higher likelihood of

having current sleep problems.

These children were also more

likely to be taking medications.

Approximately 40 percent

of parents felt that medical

interventions had no or little effect on sleep difficulties. Up to 62

percent reported that behavioral interventions had no or little

effect on their child’s sleep problems.

So: given the centrality of sleep to virtually all life and

the centrality of sleep problems in many children with FXS,

what is a parent to do? Although there are very few studies

(either medical or behavioral) that provide evidenced-based

data on effective interventions for ensuring adequate and

restorative sleep for the FXS population (Weiskop, Richdale,

Matthews, 2005; Wirojanan, et al, 2009), a practical approach

to assessment should result in an appropriate treatment plan.

Always be apprehensive of “one size fits all” recommendations

for children with FXS, who are in the throes of a challenging

developmental process and need to be uniquely assessed.

First and foremost, any medical conditions (i.e. obstructive

sleep apnea, restless leg syndrome) that may be causing

inadequate sleep need to be identified and treated. Arriving

at the root cause of sleep disturbances requires a thorough

evaluation. Parents should complete at least a one-week sleep

diary on their child to determine her quantity and pattern

of sleep. Assessment tools such as the Child’s Sleep Habits

Questionnaire (CSHQ) or Pediatric Sleep Questionnaire (PSQ)

also help qualify and quantify the type of sleep disturbances.

In a previous study, 34 percent of children with FXS were

reported to snore loudly (Kronk, Noll, Dahl, 2009). A positive

Sleep in Children With Fragile X Syndrome: A Bio-Psycho-Social Approach

SGiven that

individuals with FXS tend to have

an already compromised

nervous system, optimum sleep is essential to their

functioning.

Rebecca Kronk

By Rebecca Kronk, MSN, CRNP, PhD

FXS


relationship was found between snoring and clinical levels of

sleep issues as reported by parents. Obstructive sleep apnea

may be a chronic contributor to sleep problems in some children

with FXS.

Seizures may occur at night and are another medical

condition that needs to be considered. Children with FXS are

estimated to have an increased risk, ranging from 13-18 percent

in boys and about 5 percent in girls (Hagerman, et al, 2009).

Ideally, an overnight sleep study with an accompanying

EEG should be performed to rule out many of these medical

conditions. However, many children with FXS may not tolerate

this procedure. Audio or visual taping of your child during sleep

may help your medical provider’s assessment of snoring, sleep

apnea, teeth grinding, restlessness, and nocturnal seizures.

Inattention and hyperactivity are common co-occurring

conditions in children with FXS (Bailey, Raspa, Olmsted, &

Holiday, 2008). Since stimulant medications that treat ADHD

can also affect sleep onset, the dose and timing of administration

should be included as part of the medical evaluation.

Once a medical condition is treated or ruled out, the first

line of non-pharmacologic treatment is to improve “sleep

hygiene,” which refers to a set of sleep-related behaviors that

signal to the child that nighttime, with its accompanying sleep

expectation, is approaching. Sleep hygiene strategies can work

because cues in the external environment influence our internal

biological rhythms; it is a type of behavior conditioning that

reduces stimulation and increases relaxation.

The first area of consideration is the sleep environment.

The bed and bedroom should signal certain behaviors. The

environment should be used only for the expected behavior of

sleep, with no other stimulating activities available such as TV,

computer, or video games. Nor should the bedroom be used

as a place of discipline or stress—given the opposing forces

of sleep and vigilance, sleep needs to occur in a perceived safe

environment. Minimal stimulation, unexciting decorations,

soothing colors, transitional objects, low lights, and white

noise are all possible enhancers to creating a positive sleep

environment. Lowering the lights also has a physiological

influence by signaling the brain to release melatonin, the

hormone of the night. Conversely, morning light exposure

decreases melatonin production and has a powerful influence

on setting the internal clock for the day, thereby resulting in

an overall improvement of the 24-hour circadian rhythm.

Maintaining a regular sleep-wake schedule is the goal. This

includes regularly

scheduled meal times

and activities. Most

children with FXS

(most all children,

actually) benefit from

a consistent schedule,

which contributes to

a sense of safety and

security.

The key to

independent sleep

is to allow a child

to fall asleep in a

drowsy yet awake

state without reliance

on parental interventions. Because all children have several brief

arousals nightly, it is essential that they are able to comfort

themselves independent of outside interventions. A variety of

behavioral techniques can assist in this process. They include:n Sleep fading—This is a systematic pull-back to earlier

bedtimes. It begins by setting bedtime at the child’s current

sleep onset time, then gradually advancing to the desired

bedtime. For example, if your child naturally succumbs to

sleep at 11:00 p.m. but your desired bedtime is 9:30 p.m.,

begin at the 11:00 slot (and thus avoid 1.5 hours of struggle

right off the bat). But then, advance bedtime by a mere

15 minutes every few days, until your desired bedtime is

reached.

n Graduated extinction—This technique progressively reduces

bedtime checking. You enter your child’s room only on a

predetermined time frame to check and reassure. For

example, you initially check every five minutes but on

subsequent nights, you extend the time incrementally.

The key is to give your child opportunities to self-soothe

and eliminate your reinforcement of negative behaviors.

This technique helps with both sleep onset delay and

multiple night awakenings.

n Bedtime passes—A bedtime pass system quantifies the

number of times your child is able to get out of bed, thereby

encouraging adherence to sleep routine and promoting

sleep onset. For example, you may give your child two

“passes” (like a hall pass in school) that allows him to get

out of bed only twice. Once the passes are used, your

continued on page 25

Calvin (top) and Justin, zzzzzzzzz...


Linking and Learning Anita Inz, LINKS Group Leader, Brooklyn, New York

I volunteer because it takes people

with a multitude of perspectives

and experiences —scientists,

educators, clinicians, parents

and other family members—and

effective communication among

them to understand and treat FXS.

By volunteering, I help people

throughout the Fragile X community

learn from one another.

I have had the incredible opportunity to bring at least one

professional to the field of FXS. Many years ago, at a talk I gave

on Fragile X at a local developmental disabilities council, I met

Laurie Yankowitz, senior director of Family Support Services at

HeartShare Human Services, a voluntary agency in New York

City. As a result of the talk, Laurie was able to recognize FXS in a

client and to modify her approach to him in a way that increased

his comfort and participation in the program. I have worked

with her ever since in my capacity as president of the Fragile X

Association of New York; together, we provide information and

referrals for services to dozens of families every year. Meanwhile,

Laurie has gotten a doctorate in special education, specializing in

Fragile X.

Volunteering has also given me the opportunity to shape

research by some of the preeminent experts on Fragile X. As the

leader of one of the two LINKS groups working with our local

clinic, I maintain close contact with one such expert, Dr. Vicki

Sudhalter. I have had the benefit of her sage advice too many

times to count. Vicki, like Laurie, seeks my suggestions as she

does her work. Being able to have this kind of input feels like a

far-reaching benefit of my volunteer efforts.

At 25, my son David lives independently with appropriate

supports and has a full and rich life. I am certain that my

volunteer work has given me opportunities to help make this

dream a reality for him and for many other individuals. I

volunteer because I know I make a difference.

Mouse Race ManRich Erker, Fundraiser, Wildwood, Missouri Our son Ryan was diagnosed with fragile X syndrome on March 2,

2003, when he was two and half. I will never forget that day. “What

the ##*** is Fragile X?” we wanted to shout. We had our little pity

party (why us, why our little Ryan?), and I am not afraid to admit

that I cried many nights. That same day, my wife Dawn called the

NFXF, who referred us to contacts who live only 20 minutes away.

Their names were Marty and Margaret Israel. Dawn spent 45

minutes on the phone with Marty while I searched the web for info

(while tears ran down both our cheeks).

Soon it was on to a support meeting followed by a leadership

conference, after which Dawn and I both knew we needed to

do more. Our resource group had many goals, and we all know

what it takes those happen: hard work, passion and money. So we

started looking at different

options for a fundraiser.

That’s when Ryan’s

first speech therapist

recommended something

called “mouse races.” We

had never heard of such a

thing. But we decided to

give it a shot.

Once you start talking to people you learn that they know

other people who know other people—and many of them are

eager to help. It just starts with asking. Our First Annual Mouse

Races for Fragile X were a huge success. We were blown away by

all the people who came and gave so generously. Now, our group

is working on our 5th annual event.

Having been raised in a family that encouraged volunteering,

it was not uncommon for me to help others. But with the FXS

diagnosis, the tables were turned and we were the ones needing

help. We are all in this Fragile X family together, and each of us

is doing our part to make our collective journey special. None of

us would be who we are without the rest of us. Knowing that is

why I volunteer.

Four Who (Continue to) Step UpVolunteering is the mother’s milk, the lifeblood, the context out of which most every activity of The National Fragile X Foundation flows. Our volunteers are precious and passionate about their involvement, and the foundation would simply cease to exist without them. We thought we’d hear from a few of them about why they do that thing they do.

Focus on Volunteers linda sorensen


It’s About RelationshipsDr. Gary Bassell, Scientific & Clinical Advisory Committee Member, Atlanta, Georgia

I am pleased to serve on the Scientific

and Clinical Advisory Committee

(SCAC) of The National Fragile X

Foundation. In this capacity, my

main responsibilities are to advise

the foundation on research proposals

and priorities, and also speak

about research progress at scientific

conferences and fundraising events.

I really don’t view this service

as “volunteerism” but rather as a professional responsibility to

help support an agency with common interests and objectives.

However, it shares qualities with volunteering with respect to

the free choice we as scientists have in what to study and how to

invest our time throughout our careers.

The first transformative event in this career choice was my

recruitment to the Rose Kennedy Center for Mental Retardation

at Albert Einstein College of Medicine in 1998. Later came my

faculty appointment at Emory University in 2005, which is truly

a unique environment for collaborative, interdisciplinary research

on Fragile X at all levels. I continue to be motivated by an ever-

growing group of outstanding scientific colleagues, including

several talented students and postdoctoral fellows working

tirelessly in our laboratory. I greatly value these relationships.

Equally important have been the personal interactions

with individuals and families whose lives have been affected by

fragile X syndrome. My first direct interaction with individuals

with FXS was at a National Fragile X Foundation conference

in 2002. I was deeply moved by the challenges and personal

experiences faced by parents on a daily basis. As a parent myself,

the intertwined love and emotional stress that these parents deal

with resonated with me. They are supported by the interactions

with the scientific community at these NFXF conferences, which

offers hope for their future, and we in turn continue to be

motivated by their support and appreciation.

My own career choice and commitment, including my role

on the SCAC, continues to be motivated by relationships with

fellow scientists and affected families. This has been a rewarding

experience, and I look forward to a promising future.

Going LocalJoe Garera, LINKS Group Leader, Erlanger, Kentucky I was asked why I volunteer. Well, I’ve got to blame my genes for

some of this—volunteering in my family goes back generations.

Growing up I often saw my parents and grandparents being

involved at church, schools, local civic clubs, fire departments

and youth sports. As one of five kids we all understood the value

of giving and getting involved.

After the diagnosis of our son Nick, we contacted the

foundation, which helped get us started on the right track with

some good material. Realizing that education was crucial, we

sought out the next Fragile X International Conference, held

in Portland in August 1996. Attending my first conference

was the most overwhelming and enlightening thing I had ever

experienced. I left Portland with many things, including some

great friends and the realization that I (we) are not alone in this

journey. I also left with a dream of how great it would be to

bring a smaller conference to our area.

When my dad, an avid golfer, passed away, my family began

planning to host a golf outing in his memory. We were unanimous

on where the money would go: to help Nick and FXS.

My wife Leslie and I embarked on our first conference

in late 2000. With the help of our families and friends and

their support in raising awareness and money through the golf

outings, the First Cincinnati Area Fragile X Conference became

a reality. We have now hosted a total of four conferences

and partnered with a local TV station to host three Fragile X

weekend clinics.

Everyone we’ve

touched through these

many activities has

touched us back many

times over. So, why do

I volunteer? I believe

just like most parents,

we will do as much as

we can to help our kids.

Let me relate a question

I was asked while getting introduced for a presentation at Miami

University. “Joe, what is your title?” “It’s just ‘Dad,’” I replied.

I thank Leslie, Nick and my family for supporting me

and allowing me the time and energy to be involved with

The National Fragile X Foundation. n


ne of the prevailing fears for a couple when their child has

a disability is that their marriage will be affected, perhaps even

end. In fact, one statistic cited to such couples is that 80 percent

of them will be divorced because of the child. When couples tell

me this, I let them know that is not my experience, nor can I find

any data to support it. However, it important to recognize that

50 percent of all couples divorce, and that statistic can be higher

when a significant stressor hits the family.

Having a child with a disability is certainly one of those

stressors—and it is chronic. Regardless of the marriage’s health,

a child with special needs requires

enormous renegotiation of roles and

reordering of priorities for parents.

Disability in a child challenges our core

beliefs about life and its meaning, and

it challenges our dreams for the future.

Other stressors and crises do that,

too—illness, unemployment, natural

disaster, or a death in the family. But

disability in a child carries with it

particular obstacles that couples must learn to navigate if the

marriage is to thrive.

But first, let’s look at what the experts say constitutes a

“healthy marriage.” In his book, 10 Lessons to Transform

Your Marriage, Dr. John Gottman, who has made the scientific

study of marriage his life’s work, says that “happily married

couples behave like good friends.” He also says they handle

their conflicts in “gentle, positive ways.” Note that he does not

say healthy marriages have no conflict, but how that conflict is

managed determines the marriage’s success.

In their book, Married with Special Needs Children, Laura

Marshak and Fran Prezant say that in a healthy marriage,

partners: 1) feel connected through time, affection, and intimacy;

2) have good communication and conflict resolution skills; 3)

have tolerance and respect for each other’s differences; 4) share a

fair distribution of power and responsibilities; 5) feel like a team

and are able to adapt to changing circumstances; 6) have a sense

of their individuality and also the

“we-ness” of the relationship; and

7) are committed to the marriage.

Children entering the

relationship present new challenges.

The couple must adapt to their

new roles as parents while also

trying to stay connected as

lovers and partners. And when

one or more of the children has

fragile X syndrome or any other

significant disability, a whole

additional set of challenges presents

itself. Besides dealing with our

individual struggles of parenting a special needs child, we must

simultaneously surmount the following challenges with our

partner if the marriage is to thrive:

1. We need to connect with our spouse even though at times it

seems our child’s issues are all-encompassing.

2. We have to accept that our partner may have different

emotional reactions to the diagnosis. In our minds, our

partner may not be “grieving right.” On the whole, men

and women tend to handle their feelings quite differently,

and that reality may be challenging for each partner to

understand.

3. We may have to make adjustments to our marital and

parental roles in a way that feels fair and doesn’t cause

resentment in either party. This may require occasional

evaluation and re-adjustment.

4. We have to do our best to retain some gestures of romance so

that we can see one another as more than “Mom and Dad.”

5. We need to develop a creative vision for the future, despite

the challenges of the present moment. Often the thought of

the future, which was once the subject of much dreaming

together, becomes a scary subject, best avoided. With time,

couples can begin to dream again about their shared vision for

their future (even if that future only extends to next month).

FXSn Cover Story By Diane Simon Smith

Married…With (Fragile X) Children

OIn the midst of

the extraordinary demands of parenting, getting our children situated, and making

a living, how can we realistically take the necessary steps

to make our marriages stronger?

Diane Simon Smith


6. We need to be on the same team.

As on any team, each partner has

strengths and weaknesses. As a

team member, you must strive to

complement each other and develop

a strategy for getting back on track

when correction is needed.

So, in the midst of the extraordinary

demands of parenting, getting our

children situated, and making a living,

how can we realistically take the

necessary steps to make our marriages

stronger so that they can “go the

distance?” How can we be flexible enough to respond to new

and changing demands? Here are some suggestions:

n Plan some time alone together. First and foremost, couples

need to carve out time that is theirs alone. Of course, this is

easier said than done, given the challenges of time, money,

and finding babysitters. (The latter can be especially difficult

if there is no family around.) This is the purpose of respite

care. Use it to have sacred time for yourselves. You can even

do something small like taking a walk or going to an early

movie; it doesn’t have to involve great time or expense.n Express appreciation sincerely and often. One thing that

couples consistently tell me in therapy is that they often

don’t feel appreciated by one another. Acknowledgement

for the big things is very important, such as: “I really

appreciate how you work so hard to support our family.”

Or: “You do such a wonderful job with the kids.” But

remember: the little things are important, too. Try stating

something very specific such as: “I really appreciate that

you helped me get the kids’ breakfast this morning.” Try for

one such acknowledgement each day. (And try not to follow

up with, “but….”)n Share laughter and find humor in everyday things. Children

with FXS can be charming and very funny. There is plenty

to enjoy about them. So reclaim humor, irony, and laughter

if these have been in short supply for you. It is a powerful

weapon against despair and disconnection.n Praise frequently; criticize rarely. Research shows this

formula is a predictor of marital longevity. Try for a 3:1

ratio to start.

n Respect each other’s different ways of dealing with your

child’s disabilities. Through conversation, listen to your

partner’s experience of your child, and accept that it may be

different from your own.n Accept each other’s strengths and limitations. On a team of

any kind, there are individuals who excel at one skill and do

not do as well at another. It is important to remember that

we each have limitations that our partners must learn to

accept. n Develop a united front for parenting. A difference in

parenting styles is a primary source of conflict between

partners. Do not undermine each other’s parenting. Take

your discussions and disagreements away from the children.

If you fear your partner is very inappropriate in his or her

parenting, get help.

Relationships are a challenge and an opportunity for

growth, under any circumstances. Good relationships require

showing empathy and taking responsibility. Think about what

it is like for your partner to be the parent of a child with fragile

X syndrome—and what your partner might need from you both

emotionally and practically. Share these ideas with your spouse.

Then imagine your relationship as you would like it to be.

Decide on the one thing you can do today to move you toward

that vision and then take that step to make your reality closer to

that vision. n

The author is a licensed marriage and family therapist in

Woodland Hills, California, and the mother of two children

with special needs. Her son, Andrew, who passed away in 2002

at the age of 17, had severe cerebral palsy. Matthew, 23, has

fragile X syndrome. She considers her sons to be her teachers.



Doggone It, Mantras Are Great for Learning!!

ou may recall the line from Saturday Night Live character

Stuart Smalley, played by the now Senator from Minnesota, Al

Franken: “I’m Good Enough, I’m Smart Enough, and Doggone

It, People Like Me!” One of the highlights from last year’s

participation in Advocacy Day was seeing Senator Franken

on the Senate floor. While most of our therapy techniques

are sophisticated and learned from professionals rather than

Saturday Night Live cast members, mantras, like positive

affirmations, really do have power. In our case, we have

found mantras to be useful for both skill development and

to support self-regulation.

So, what are mantras? Mantras are short, positive,

instructive statements full of action words. We use them to quiet

the mind and focus thinking and action. Of course, there is a

spiritual tradition from which mantras are derived. But we will

leave that explanation to those wiser than us! Ommm…

Mantras and skill developMent

Most of us have had a coach or instructor try to assist us in

learning a new motor skill. One of the tried and true techniques

in skill acquisition is focusing on a particular aspect or subset

of the skill. Rather than trying to develop the entire skill in one

swoop, the teacher emphasizes a discrete part of the skill, then has

the student practice to achieve mastery. For example, a beginning

downhill skier will learn to shift her skis by using the mantra and

visualization of “French fry” (skis together to move down the hill)

and “pizza pie”(push skis to wedge-shape to slow down). The

verbalization and mental imaging drives the motor action, and

repetition builds confidence and focus. As mastery and ease with

the skill develop, the mantra is allowed to fade out.

Individuals with fragile X syndrome are prone to self-talk

and perseveration, so in a significant way, teaching them to use

constructive mantras harnesses their natural tendency to narrate

their lives. Some examples: A common skill we have to foster in

children and adults with FXS is eating normal size bites, chewing

and swallowing, and minimizing mouth-stuffing. Mantras can

play a role in the rehearsal and reinforcement of the skill you are

encouraging. In many cases we have used the following mantras

successfully:

n Take a bite, take a bite, take a bite….CHEW!

n Take a bite, take a bite, take a bite….DRINK!

n Dip a little, dip a little, put it in your mouth! (This is

particularly helpful for introducing novel foods.)

n Feet together…JUMP! (Used to promote correct motor

plan for trampoline jumping.)

n Thumb to the ceiling with my scissors! (Used to promote

correct motor plan for holding scissors and cutting.)

If you’ve ever listened to the Ms. Marnie TV Teacher

videos, you’ll see how she uses short, catchy phrases to reinforce

motor planning skills related to drawing and handwriting.

Sometimes we’ll use a favorite phrase or utterance or silly

sentence to prime a child’s rhythm for working on timing and

generation of verbal speech.

One boy loved barbecues, and we used the phrase,

“I went to a bar b cue, and I had some…….”

Of course, everyone’s favorite mantra relates to the early

developing skill of cleaning up (although Mouse’s 25-year-

old is still working to mastery on that): “Clean up, clean up,

everybody everywhere!”

Mantras and self-regulation

Mantras are powerful for quieting and focus, and thus lend

themselves well to the arena of self-regulation. The common

experience of talking yourself through a stressful situation

reveals the human tendency to derive comfort from repetitive,

focused self-talk. “I can do this, I can do this, I can do this,”

you say, as you step from the plane and open your eyes to cast

a last glance over your shoulder to make sure your instructor

remembered to secure your parachute.

FXStherapy in action With mouse & tracy

Y

24th in a series of “Coffee Talk” articles by Occupational Therapist Tracy Stackhouse and Speech Therapist

Sarah “Mouse” Scharfenaker.


As therapists, we realize the power of focusing on the

precise quality that can promote the shift that is desired. Often

the phrase that comes to a person naturally may be too negative

to be effective. For example, we have a boy we work with

who repeats over and over, “Shut up, I hate you…I’m sorry!”

Sometimes letting him vent with this phrase can be helpful, but

more often he becomes stuck in this negative space and attitude.

Working with him to shift this to something more positive and

empowering such as “I need some space…that’s better” allowed

him to express the source of his negative affect.

With another young man, being precise about what needed

to be regulated was effective. His mantra was, “I am the boss

of my hands, I am the boss of my feet.” These were encouraged

when he would impulsively run or grab or throw. Some other

examples of self-regulatory mantras are when we use a phrase to

target “stopping,” a self-regulation capacity that is often difficult

for individuals with FXS.

“Stop… take a breath” and “Stop….think…..now do” or

“Think it, say it, do it” are all examples of how we would work

on inhibition and impulse control. These are often paired with a

gesture, since the verbal and nonverbal combination can be very

effective. For example, with “Think it, say it, do it,” we pair a

point gesture to the head, the mouth, then the body, and find

that sometimes we can fade the verbal to just the gesture, which

teachers can often incorporate in classrooms. The “Five Finger”

approach that we have discussed previously is a gesture/mantra

self-regulation cueing system. The individual first grabs the

thumb and says, “Stop,” followed by holding the index finger

and saying, “Take a breath.” The final three fingers are paired

with: “What’s wrong, what can I

do, and now do it!”

Besides pairing mantras with a

gesture, we often couple them with

a visual to better facilitate learning.

For example, a two-sided card with

a green or red circle on either side,

paired with “Ready...not ready” is

a basic self-regulation support that

is visual and “mantra-ized.” We

might have a “Take a break” card,

a stop sign, a breath sign, or an individual-being-the-boss-of-

their-hands photograph to pair visuals with mantras.

Finally, as therapists, we are sensitive to varying degrees of

cognitive understanding and verbal expression, and find we can

easily adjust the cues and method of accessing the mantra as

needed.

Mantras can play a role in anyone’s learning. So choose

your favorite and adopt it! And our thanks to Stuart Smalley for

empowering us. As we started our writing process for this article

we adapted one of his favorites that started us off here: “We’re

gonna help people! Because we’re good enough, we’re smart

enough, and, doggone it, people like us!” n

Tracy Stackhouse, MA, OTR and Sarah “Mouse” Scharfenaker,

MA, CCC-SLP, are co-founders and directors of the

Developmental & Fragile X Resource Centre in Denver, C0.

Email: [email protected], and

[email protected]

The common experience of

talking yourself through a stressful situation reveals

the human tendency to derive comfort from repetitive,

focused self-talk.

Finding yourself telling tales over your coffee cup about your kids and other family members living with Fragile X? Are you

reflecting in a private journal or on a social media site like My.FragileX.org about your experiences as a parent of a child with

FXS, or as a son or daughter of a parent with FXTAS or FXPOI? Please consider sharing those thoughts for the benefit of readers

in the wider Fragile X community. Fragile X Quarterly editors always welcome and work with writers, from professionals to

absolute beginners, who wish to explore the many dimensions of life in the Fragile X world. Writing opportunities include:

No ideas or tales are too small or large. Send submissions or discuss your ideas with: [email protected]. Thank you!

• Parents’ Forum

• In Their Own Words

• Letter to the Editor

• Something more wide-ranging still!

WritefortheFragileXQuarterly!


By Andrew Hidas

Anyone keeping up with Fragile X research literature in recent years comes across the term “mGluR5” with increasing regularity. Can you give us a sense of what it means and why it’s important?Researchers studying the chemistry of the brain have made some

discoveries we’re coming to believe are largely responsible for

most of the behavioral problems seen in boys and girls with

fragile X syndrome. The generally

accepted idea based on this

research, which began with the

work of Dr. Mark Bear’s group at

MIT and was published in 2002,

is that FXS involves a problem

with glutamic acid. Glutamic acid

is one of 22 amino acids in the

human body. Amino acids are the

basic building blocks that form

protein in every cell. Glutamic acid

is an excitatory chemical, meaning

it excites the cell it’s released on. When an electrical signal goes

down the nerve, it stimulates a second nerve to be either excited

or inhibited. It causes or prevents the other nerve from expressing

a signal. The research on mice suggests that there is an over-

reaction to glutamic acid in those with FXS, which causes too

much stimulation in the brain. So one of the ideas being studied

is to partially block the glutamic acid and thus inhibit the highly

excitable behavior we see in FXS. This approach has been quite

successful in mice. This targeted approach to therapy has caused a

lot of excitement in the medical community.

How does the glutamic acid get blocked?There are several ways, but chief among them are various drugs,

some of them now in phase II clinical trials. One published

study from Novartis involved a small sample of 30 subjects in

Europe. Partially blocking the glutamic acid seemed to improve

the behavior of children with FXS. All the subjects who had the

full mutation improved clinically. Those with just a partially

methylated mutation didn’t seem to be helped as much. This

was curious—we’re not sure why it would be. Obviously, more

research is needed on this.

Why is there too much glutamate?The discovery and sequencing of the “Fragile X gene” (scientific

term: Fragile X Mental Retardation 1,” or “FMR1”) in 1991

by Drs. Warren, Nelson, Oostra, Mandel, and Sutherland’s labs

showed that it plays a central role in typical brain development.

That gene is “broken” or “fragile” in those with FXS, so it doesn’t

produce enough of a key protein known as the Fragile X Mental

Retardation Protein (FMRP). This lack creates a chemical reaction

that allows glutamic acid to run wild. It’s a complicated piece of

chemistry.

Are we looking at the many drugs currently being studied as a possible cure for FXS, or are they more for symptom amelioration? The basic problem in FXS is the lack of FMRP. So if we’re to cure

the syndrome, it would mean replacing that protein. We’re not

there yet. The drugs we’re studying address the problem of excess

glutamate. So it’s addressing part of the problem, but it’s not a

cure.

What would lead toward a cure?The ideal would be to use genetic engineering to replace the

Fragile X gene chemically in those people where it is broken and

effectively turned off or “methylated.” That would allow it to

re-express itself or become “unmethylated,” which is its typical

state. If we could do that, we might have a chance for a cure.

mGluR5: A PrimerThis is the second in a series of Q&A’s focused on better understanding the basic science and importance of terms frequently appearing

in Fragile X research. Interview subject Ted Brown is one of those accomplished souls who seem to be not all that rare in the Fragile

X research community: a “doctor doctor,” or holder of both MD and PhD degrees. As medical director of the Fragile X Clinic at the

Institute for Basic Research on Developmental Disabilities (IBR) on Staten Island, New York, and Principal Investigator on the CDC

grant supporting the Fragile X Clinical & Research Consortium, Brown is at the forefront of multiple collaborative efforts to research

the causes, treatments, and possible cures for Fragile X, in addition to ongoing research on the related condition of autism. A native

of Montana (where he was state chess champion as a youth, a fact he does not readily share), he now lives on Staten Island with wife

Donna, a speech therapist for children with autism. They met at a Fragile X conference in Australia in 1985 while she was working in

Denver with NFXF founder Dr. Randi Hagerman. The couple has two young adult children.

The basic problem in Fragile X is the

lack of FMRP. So if we’re to cure

the syndrome, it would mean

replacing that protein.


Are there studies underway along those lines?Yes, there are plans to increase studies, but we’re in the very early

stages. We need a lot more experience than we have now.

Given the importance developmental psychologists place on human beings hitting key developmental milestones at certain ages, would an eventual cure focused on re-expression of the gene help older children and adults with fragile X syndrome?It’s hard to say, but studies done with mice didn’t show age to be

a major factor. It’s possible it could be like curing deafness at 12

years old—one can still learn a lot, even having missed out on so

much in earlier life.

Let’s get back to defining mGluR5. We’ve covered the “glu” for “glutamate,” but what do “M” and “R5” signify?“M” stands for “metabotropic,” which means it involves an

internal metabolic pathway. R5 signifies the 5th one, which turns

out to be the main one out of 8. So taken as a whole, mGluR5

refers to a protein that is the 5th receptor of the metabolic type for

glutamic acid.

Do all mammals have mGluR5?Yes. Not only mammals, either. We see it in fruit flies and worms,

too. The basic chemical system that builds and sustains life

evolved very early, so we still see it in primitive life forms. We can

watch plants in seabeds just sitting there doing nothing, but their

nervous system transmitters and receptors are functional very

much like ours, so they are capable of sensing and then pulling a

passing organism in to feed themselves. This is based on simple

nervous activity, but it requires a lot of things to function correctly.

We can assume human nervous systems are a bit more complicated?The central nervous system has billions of nerve cells, connecting

the activities from all parts of our body. It consists of the brain and

spinal cord. When we want to wiggle a toe, an electrical impulse

goes from our brain along the spinal cord down through our leg

and then to the toe. It’s highly organized and complex, but most

nervous activity takes place beneath our awareness. Obviously, no

one is aware of the glutamic acid activity that causes nerve cells to

express over-enthusiastically. This is just how we are made, and

most of the time, everything functions in a way that can sustain

life. And sometimes, things go wrong.

It seems rather miraculous they go right as often as they do.Yes, human life is pretty much miraculous, in the fact that we

have evolved to this point. We have approximately 25,000 genes,

of which some 60 to 70 percent are expressed in the brain. Genes

have to be expressed in just the right order in thousands of ways,

and if they’re not, it causes disruption in normal neural activity.

The Fragile X protein appears to be very important for nervous

system function, because it modulates the expression of other

genes. If 25,000 genes are being expressed, we know that about

5 percent, or 1,250 genes, are under the control of the Fragile X

gene. That amounts to a significant impact on neural activity.

Sounds like there’s lots of buzz among scientists in the Fragile X field.Yes, plenty of excitement. There is a lot of basic research underway,

too, about what happens when the Fragile X protein is not expressed,

what’s going on mechanistically in the cell, because there might be

other targets we can reach besides just glutamic acid. We’re at a point

where targeted drugs might make a real difference in people with

fragile X syndrome, helping them to live richer lives. n

The author has edited the Fragile X Quarterly since 2004.


Dr. Ted Brown is part of a growing contingent of scientists in various academic and research settings around the world who continue to build upon each other’s work in determining the causes, treatments, and quest for an eventual cure for Fragile X-associated Disorders.


Public policy aimed at promoting optimal independence and

empowerment of individuals with fragile X syndrome and other

intellectual and developmental disabilities (I/DD) is of growing

concern nationally. The topic engendered much dialogue at

The National Fragile X Foundation’s International Conference

last summer, and it is continuing in the wake of Rep. Gregg

Harper’s (R-MS) introduction of a

federal legislative package in February

known as TEAM (“Transition

toward Excellence, Achievement and

Mobility”).

As an ardent supporter of this

legislation by Fragile X champion

Harper, the NFXF has worked closely

with the Collaboration to Promote

Self-Determination (CPSD), an

advocacy network deeply involved in the disability rights field

that the NFXF itself helped to organize. This article will clarify

the goals of the CPSD and address questions around several

public policy reforms currently being considered by the federal

government.

Cpsd BaCkground

The CPSD was launched in 2007 by the Autism Society of

America, the National Down Syndrome Society, and The

National Fragile X Foundation. These organizations came

together in response to a growing demand from families across

the country who were concerned that their children with I/DD

lacked opportunities to work, earn a livable wage, and engage in

the community after entering adulthood. Today, the CPSD has

15 national organization members and over 100 subject-matter

experts serving on its senior advisory board.

The CPSD is committed to innovative public policy reform

that will elevate America’s consciousness of people living with

I/DD and help ensure their rights to pursue lives of optimal

independence in integrated communities. The vision of the

CPSD is that every youth and adult living with I/DD has the

opportunity, encouragement, and support required to lead an

independent, productive life.

value fraMeWork

CPSD presumes competence in all people with significant

disabilities to work and live independently in integrated settings

and to meaningfully engage and contribute to their communities.

Furthermore, the CPSD has argued that publicly-financed

resources that support these individuals should be sharply

focused on helping them become self-sufficient, productive

members of society, working and living alongside their typical

peers and compensated at competitive wages and benefits.

To accomplish this, there must be a clear focus in public

policy and resources that affirms these high expectations. Only

then can individuals advance economically by generating income

and building an asset base. Systems-change must also ensure

continued access to long-term supports for those who have

successfully achieved partial self-sufficiency but still require

some assistance to offset the tremendous costs related to their

disability. (See sidebar for the CPSD’s full value framework.)

goals

The CPSD’s goals include:n Creating a national dialogue on the need for policy

innovation and reform toward empowering youth and

adults living with complex I/DD who require significant

support;n Eliminating barriers and increasing opportunities for the

I/DD community through comprehensive federal legislation

and regulatory reforms;n Identifying opportunities at the state level for effective

implementation of these public policy reforms;n Providing opportunities for individuals to meaningfully

partake of education, employment, social interaction, and

community involvement;n Eliminating obstacles and creating incentives to empower

individuals to live and work in integrated settings, generate

income, and save for their future; n Customizing public supports based on the unique needs of

individuals throughout their lifespan.

In order to accomplish these goals, the CPSD focuses on the

following strategies:

By Serena Lowe

Employment First!NFXF Joins Growing Chorus on Job Rights for People With Disabilities

Serena Lowe


1. Advocating for individuals with I/DD to work and save

money without jeopardizing needed publicly-funded

supports. This can be accomplished through the elimination

of asset and income limits that determine eligibility for state

and federal entitlement programs such as Social Security

and Medicaid.

2. Advocating for an “Employment First” agenda that

supports competitive, integrated employment as the

preferred outcome for all people with significant disabilities,

and requires state and federal systems to fully align

practices toward this outcome.

3. Campaigning for broad systemic reform that results in

improved coordination of services for the I/DD population,

along with the blending of government-provided resources

that will promote coherent, individualized, person-centered

planning and self-direction of resources.

nfXf role

The National Fragile X Foundation is committed to ensuring

that the policy agenda of the CPSD is well-informed by the

experiences, knowledge and expertise of individuals and families

who are living with fragile X syndrome. As such, the foundation

wants to hear from the Fragile X community. We encourage you

to share your thoughts via email to [email protected].

The pathway to reform is a long and winding road that will

require consistent, thoughtful engagement of and feedback from

the Fragile X community. The NFXF is committed to advocating

for progressive reforms, while also ensuring that the rights and

choices of individuals and their families affected by Fragile X are

protected.

addressing ConCerns

Various questions have been raised about the ramifications of

the far-reaching public policy reforms that the CPSD and NFXF

are seeking. Let us address three of the central questions here.

1. Will implementing an employment first policy result in the

immediate elimination of subminimum wage practices and

sheltered employment for individuals with i/dd?

No. Subminimum wage is a wage paid below the minimum

wage set by the Fair Labor Standards Act (FLSA). It is based

on a worker’s compromised productivity due to a physical or

mental disability. Employers who pay subminimum wages must

first obtain a certificate from the U.S. Department of Labor.

They must assess the skills and productivity of their employees

with disabilities compared to employees without disabilities.

The wages of the employees with

disabilities are then adjusted based

on their level of productivity as

compared to typical employees.

There are differences of opinion

even in the disability community

regarding subminimum wage

employment. Some feel that such

laws are no longer necessary and

are not consistent with prevailing

values. Others are concerned that

the loss of an employer’s ability

to adjust wages to performance

will increase the likelihood that those with the most significant

disabilities will not have any employment opportunities and will

be forced into non-work day programs, or even out of programs

entirely. Many on both sides of the discussion acknowledge the

historically inconsistent and ineffective oversight of the system,

which has led to abuse and exploitation of the subminimum

wage system.

The CPSD’s position is simple: we support a presumption

of employability at competitive wages for all workers with

disabilities. This presumption should serve as the baseline

expectation in our society, rather than beginning from a

presumption that workers with I/DD will, by virtue of their

disability, require a subminimum wage structure. The reality is

that many individuals with significant disabilities are experiencing

success in the general labor market, earning competitive wages

and benefits—along with praise from their employers and

colleagues. As such, CPSD believes publicly-financed services

should be redirected so as to exhaust all efforts to get a person

gainfully employed in the workforce before sheltered employment

and subminimum wages are even discussed.

What is needed is a balanced approach to gradually

phase out and then eventually eliminate FLSA subminimum

wage provisions for all individuals (regardless of ability), but

only while simultaneously building the capacity to support

individuals with significant disabilities in integrated employment

paid at or above the prevailing minimum wage. This, and a

larger set of reform strategies that will be discussed in future

articles, is the crux of Employment First. The goal is a systematic

reduction in the use of subminimum wage practices, but not

their immediate elimination, so as not to harm workers currently

relying on such wages under the current approach.

CPSD presumes competence in all people with

significant disabilities to work and live independently in

integrated settings and to meaningfully

engage and contribute to their

communities.

continued on following page


EQUALITY

Lack of personal control or autonomy, deprivation of

human dignity, segregation and abuse (including

seclusion and restraint) should not be experienced by any

population or tolerated by our society for any reason.

Personal autonomy, access, accountability, and responsibility over one’s life

decision-making processes, including control over publicly-funded and personal

resources required to support an individual in their personal needs and pursuits,

result in better outcomes for the individual and society.

CHOICE

A fundamental commitment is to discover and honor

individual choice. Living and employment options that

foster a “separate but equal” scenario or that promote

exclusion in mainstream society do not foster true individual

choice or empowerment.

The current system has built-in institutional biases that support segregated outcomes,

thus limiting the ability of individuals to fully actualize or pursue their own goals or

motivations, and restricts their quality of opportunity.

COMPETENCE

Competence should be presumed in all individuals, and

public policy should presume the highest expectations on

both the system and individuals.

Public systems with high performance outcomes that meet individualized support

needs result in a decreased reliance on public supports and financing over the long

term. These supports include assisting individuals to maintain meaningful employment

in an integrated setting, earn a sufficient income, generate assets, live independently,

forge strong communal relationships in inclusive settings, and attain optimal

self-sufficiency.

COMMUNITY

The provision of supports should be measured as to how

proximate a person’s life in the community is to peers

without disabilities.

Individuals with disabilities are chronically underrepresented in all aspects of society,

and as a result their quality of life (in terms of employment, wealth, and health

indicators) is significantly lower than any other subpopulation in the U.S. (stratified

across race, age, and gender).

HOME

Everyone deserves a home, not a home-like setting. People with numerous social relationships have healthier outcomes and are less likely

to be abused.

WORK

Working-age individuals with disabilities should be

supported to pursue a working lifestyle.

Work should not be optional for individuals who are capable of working and rely on

public assistance for sustainability. It should be presumed that individuals with

disabilities want to work. A well-compensated and well-trained workforce is critical

to providing supports.

DIGNITY OF RISK

Future systems of supports and service delivery should break

away from the paternalistic cycle of the past and instead

promote and respect the dignity of risk.

The nature of cognitive impairments associated with a I/DD makes those living with

such disabilities particularly vulnerable to the prejudices of external stakeholders,

which impedes their ability to make informed choices based on personal desires rather

than external influences and pressures. Families (of biology or of choice) of adults

living with I/DD are an important component in considering supports.

EQUITY

All people with disabilities should receive public resources

based upon individual support needs. Assistance should help

them achieve inclusive education, integrated employment, and

independent living within typical community settings.

Systems should be prohibited from keeping certain subpopulations from resources

that would allow them to strive for, attain and achieve personal objectives related

to increasing their self-sufficiency, independence, and economic progress in

integrated settings.

CORE VALUES GUIDING PRINCIPLES


2. Will individuals with complex i/dd conditions such as fXs have the

knowledge and capacity to compete and be productive at standards

expected in the general workforce?

With the needed supports, yes. We are now more than a quarter

century into a disability rights movement that has definitively shown

that with appropriate supports, individuals with disabilities can

achieve far more than the low expectations placed on them by our

society and publicly-financed systems would suggest. A key objective

of Employment First policies is to address the current imbalance

of federal funds that are being invested in services that continue to

presume low expectations among individuals with disabilities and

further perpetuates their segregation from the economic mainstream.

A rebalancing means that existing expenditures must be used to

support a system that presumes high expectations and competitive

employability. Without sweeping systemic change and a rebalancing

of the way federal and state support dollars are spent, nothing will

ever change. Consider:n State Medicaid programs spend four times more federal

money on segregated adult day programs (day habilitation and

sheltered work) than on supported employment ($488 million

vs. $108 millioni).n Recent data suggests only an estimated 20 percent of individuals

receiving day supports from state disability agencies participate

in integrated employment.ii The vast majority of persons served

through the community rehabilitation provider system are

in sheltered employment, non-work programs, or training

programs with the goal of eventual competitive or supported

employment.

Over the years, services provided in group settings and center-

based programs have led to far fewer instances of integrated

employment. Wages in these segregated settings are also far below

rates for typical employees (and are often without benefits). The

changes proposed in an Employment First system will not be easy

and will not take place overnight, but unless the current system is

forced to change, individuals with FX and other I/DD will never

begin to realize their full potential and place in society.

3. does the Cpsd and its employment first agenda fully take into account

what is happening in states and local communities, and the needs of

employers of individuals with the most significant disabilities?

Yes. The CPSD is guided by a senior advisory board of more than

100 national opinion leaders whose professional and personal

lives are dedicated to providing technical assistance, employment

supports and research/policy guidance to facilitate the effective

transition and integrated employment of individuals with significant

disabilities. Additionally, the CPSD’s partner organizations include

national trade associations representing every aspect of state I/DD

networks, including the state directors of developmental disabilities

services, university centers of excellence on developmental

disabilities, protection and advocacy units, and state councils on

developmental disabilities. Moreover, the CPSD is comprised of

member organizations that represent the families of individuals with

I/DD, along with self-advocates who are fully capable and should be

actively engaged and advocating on their own behalf.

Finally, the CPSD is guided by established national trends, a

growing body of data, and many testimonials that help sharpen

its focus on bringing promising practices to a national scale. The

collaboration does not propose an independent agenda, but rather,

a set of the best and most progressive ideas to promote self-

determination and fully integrated, productive lives for all those

living with FXS and other complex I/DD. n

The author is president of AnereS Strategies, a Washington D.C.

consulting firm, serves as executive director of the CPSD, and

served as a public policy advisor to the NFXF and its government

affairs team for more than 10 years. Email: [email protected]

...continued from previous pageEmploymentFirst!

i. Butterworth, J., Smith, F., Hall, A.C., Migliore, A., Winsor, J. State Data: The National Report on Employment Services and Outcomes. Institute for Community Inclusion, University of Massachusetts Boston (2008). Available at: http://www.communityinclusion.org/article.php?articleid=250 ii. Butterworth, J., et al.


lthough the early months of the year

brought chilly winter weather, NFXF

supporters ran, biked, and bowled their

way to raising money and awareness for Fragile X! Meanwhile,

back at foundation headquarters we enjoyed overwhelming

success with our first-ever direct mail campaign in support of

Advocacy Day. As Fragile X friends and family marched to

Washington D.C. for the eighth year in a row, many donors

showed their support from home by contributing to a collective

$27,000! Without this vital investment from our donors and

advocates, we could not continue our year-round advocacy

efforts that have led to the steadily increasing federal funding

for Fragile X. Thank you!

Raising Green in the Desert—Scottsdale, AZ

For the third year in a row, friends gathered at the Troon

Country Club to raise money for the NFXF, courtesy of event

organizers and hosts Joan and Jay Canel and Irv and Judy Gross.

Guests were welcomed with a heartfelt message from Judy,

after which Executive Director Robby Miller updated the crowd

on the Fragile X Clinical and Research Consortium. Robby

then introduced Dr. Robin Blitz, a developmental-behavioral

pediatrician at Phoenix Children’s Hospital. Dr. Blitz announced

plans to open a Fragile X clinic in Arizona and discussed the

progress towards achieving that goal in 2011.

The afternoon included the opportunity for guests to bid

on a wide array of auction items ranging from gift certificates

to local artwork graciously donated by local businesses and

artists. It concluded with lively card games. Many thanks go out

to the Joan-Jay-Judy-Irv team for their hard work on another

successful event!

Valbella Wine Tasting—New York, New York

On March 7 Paul Cappiali, a friend of NFXF board member

David Justus, organized a wine tasting fundraiser in New York

City. The owner of Valbella restaurant provided space, food, and

service and helped attract patrons. The event provided a fantastic

opportunity to raise awareness of Fragile X, and a portion of the

proceeds were donated to the NFXF.

“Friends for Tommy” Inaugural Bowl—Batavia, IL

Like most parents in such circumstances, Alicia and Matt Brooks

didn’t know where to turn when they received an FXS diagnosis

for their son Tommy. Two years later, after having met many

families in their local community and beyond through the NFXF,

they held their inaugural Fragile X Bowling Party. With cautious

expectations, they set a goal of filling 16 lanes, hoping to have

70–80 bowlers. One week after invitations were sent, they had

to call the bowling alley to see if they could accommodate over

180 people! They were overwhelmed by the support from family,

neighbors, school friends, sports teams and wonderful members

of the community that wanted to support Fragile X.

The group took over the entire bowling alley and the lanes

were filled with bowlers of all ages. When kids were not bowling

they were entertained by a professional face painter who painted

favorite animals, insects and even green smiley faces to match the

cookies handed out for Fragile X awareness. The day concluded

with Tommy selecting the raffle tickets, and winners walked

away with an iPod touch, a night’s stay at a 4-star hotel and

spa, interior home painting services, a bowling party and even

gourmet pastries and candies. All the bowlers had a great time

and wanted to know when the next event will be held. Many

thanks go out to all our friends for Tommy!

Spring Fragile X Fundraising Fun

Focus on ‘Fun’draising meghan mcmurray

A

Parents Matt and Alicia Brooks, Grandparents John and Joanne Salemi with Tommy, Uncle “D,” sister Isabella, cousins Sophie, J.D. and Taylor, and Auntie Stacey.


Challenge X—Prescott Valley, AZ

On January 29, Anytime Fitness Prescott Valley hosted its second

Challenge X Bootcamp to raise money for the NFXF. Under

the guidance of Season 7 Biggest Loser contestants, participants

revved up their workout regimens by pushing through a six-

hour boot camp. The event has grown in popularity since the

first Challenge X was held in July 2010. Anytime Fitness owner

Leanne Shearer plans to turn it into a semi-annual event—with

proceeds continuing to benefit Fragile X!

Jackson Laughs Race to Benefit the NFXF—Kent, OH

When Fragile X parents

Ben and Natalie Koberna

committed to holding a

fundraiser in honor of their

son Jackson, they decided

to organize a race to attract

local runners. Months of

planning led up to the April

9 event, which was held at

Kent State University’s Dix

Stadium. Some 120 runners

showed up on the cold and

cloudy race day to participate in the 5K, 25K, or 1-mile fun run.

NFXF Board Member and Fragile X researcher Dr. Elizabeth

Berry-Kravis was there to run the 25K—and finished third in her

age group! All 25K participants received Tek Ts, and 5K runners

received commemorative pint glasses.

Immediately following the race, an awards and after-party was

hosted at the Rusty Nail bar. Dr. Kravis and Robby Miller concluded

the day’s events with speeches to educate the crowd about Fragile X

and the NFXF. The Kobernas hope to hold the event again next year

and would like to thank participants, friends, and family who made

the race possible. n

The author is the development coordinator for the NFXF. For

more about organizing or supporting fundraising activities,

contact her at [email protected].

Sione and Filipe Fa with two Anytime Fitness Bootcamp participants.

Race organizer Ben Koberna and his son Jackson.

Trustees CircleThe NFXF would like to recognize each member of the Trustees

Circle. By committing to financial support of the foundation at

a $1,200 or higher annual level, trustees ensure the long-term

health and vitality of the organization. The sustained investments

from our trustees are crucial to continuing the important work the

NFXF provides for all families touched by Fragile X. n

Eileen & Marty Aronovitch Pam & Don Bailey, PhDDean & Elizabeth Berry-Kravis Al & Melissa BlountMarcia Braden & Ken WoodJay & Joan CanelScott & Lynda CanelJerad & Julie ChaoJoey Christoff & Catherine Frey-ChristoffJeffrey & Arlene CohenCarey & Cheryl Kraff Cooper, MDPhillip & Sandra CooperTed & Mary Beth Coutilish/LanganRichard & Rosalee DavisonMark & Bonnie DissetteJonathan & Mara DorffPeter & Kari EspinosaIra & Rebecca FishmanMark & Caryn GershensonJohn & Madelyn GibbsTodd & Marcia GraysonMark & Marla GruzinRandi Hagerman, MD & Paul Hagerman MD, PhDJohn Harrigan & Stephanie JacobGail & Stephen Harris-SchmidtKevin & Melanie HeinemanNancy & Paul HeiselGail & Lyons HeymanAnita & Richard InzMargaret & Martin Israel

Rose & Scott JahnkeTricia & Joe JudgeDavid & Joy Justus Stephen & Shirley KaufmanLisa & Michael KelleyManus Kraff, MDDeborah & John Kwan, DDSMarty & Terri LangTom & Peggy Lang Kim MillerMichael & Marilyn MorganPaul & Teresa MulhausenDavid L. Nelson, PhD Bobbi NewmanJanice OlsenJohn & Tracey Petrides, MDJ.C. & Viviana PlanasPhil & Barbara PorterfieldTricia & Don PriceKatherine & Markus RoedersRobert & Sher RosenfeldAndrew & Tammy SelingerMary & Roger Seward Phyllis & Herbert SiegelKimball & Jennifer SilvertonDebra SkinnerDiane & Gifford SmithRuss & Linda StrandRobert & Ruth Strudler Carolyn & John Tomberlin Rosa & Angel Vega Sherri & Brad Whitus

HElpUSCElEbrAtENationalFragileXAwarenessDay!

Send us a photo of your child doing one of the 1,001 things

our children do that show them as the delightful, rounded,

always interesting and self-determined individuals they are!

Then write a note about it to share with the Fragile X

community. Just go to: FragileX.org/awareness/2011

...and follow the directions to help show the world your

child, just like all children, is more—always more—than the

sum of any labels or diagnoses we can possibly give them.


ust as every flower adds new dimension to a bouquet, new

people joining the various boards and committees that support

the work of The National Fragile X Foundation help ensure that

fresh inputs, skills and perspectives are constantly enhancing the

foundation’s work. Below are brief capsules of new NFXF board

members who have joined over the past year. More information

about them and continuing board members can be found at

http://www.fragilex.org/html/foundation.htm.

Ted Coutilish lives in Grosse Pointe,

Michigan with his wife, Mary Beth

Langan, and son, Andrew, 10, who

was diagnosed with FXS at age 21

months in October 2002. The family

subsequently discovered that Mary

Beth has FXPOI and her dad, Jack

Langan, has FXTAS. Ted has been

active in the Fragile X Association

of Michigan and the NFXF in assisting with marketing and

communications needs while also serving as associate vice

president of marketing at Eastern Michigan University. He

co-writes a column in The Grosse Pointe News with Mary Beth

entitled “X-tra Special Advice,” for parents of children with

special needs.

Dave Justus is the chief financial officer

for a technology company in Orange

County, California, where he resides

with his wife Joy and two sons: 5-year-

old Jackson, who is unaffected, and

2-year-old Tyler, who was diagnosed

with fragile X syndrome in 2010. No

one in either of the extended families

had ever heard of FXS prior to then.

One month later, Joy’s father was diagnosed with FXTAS. Dave

consented readily to joining the board after experiencing the

overwhelming support services made available to his family

through the existence of the NFXF.

Kimberly Miller has worked in the development field for more than 15 years with a variety of nonprofit organizations. She lives in Roswell, Georgia, with son, Andrew, 10, and daughter Maddie, 8. After Andrew was diagnosed with FXS at age 4 (Maddie is unaffected), she immediately called the NFXF and talked with Executive Director Robert Miller (no relation).

Thus began the building of multiple relationships that quickly led her to serve in several key roles at the International Fragile X Conference in Atlanta in 2006. Appointments to become an FX Association of Georgia LINKS leader and co-chair of the NFXF Board Development Committee soon followed.

JC Planas served in the Florida State House of Representatives from 2002 to 2010. He first became aware of Fragile X when his cousin William was diagnosed in 2004. That event became the catalyst for his family’s continuing commitment to raise awareness and participate whenever possible in Fragile X-related events. While a legislator, he was instrumental

in helping to secure start-up funding for the Fragile X Clinic at the University of Miami, and has participated in three Advocacy Days in Washington D.C. He hopes to start a similar Advocacy Day effort in Florida.

Jennifer Silverton shares two “tween-age” children with her husband Kimball at their home in Grand Blanc, Michigan. Her son, Aidan, 13, was diagnosed with fragile X syndrome at age 2 ½, while daughter Camryn, 11, is unaffected. After graduating from Michigan State University with a degree in journalism, she spent 12 years as a television news reporter with

national network affiliates in Michigan and later worked on an entertainment show in Los Angeles. She serves on the NFXF Communications Committee, among many other foundation

activities.

Five New Members Come “A-Board”

J


child has a visual, transactional reinforcer that encourages

him to stay with the program.

These techniques have been successful in children with

typical development as well as those with special needs. While

generally not a quick fix, they can be a lasting fix.

Behavior techniques may be used independently or in

conjunction with medications. However, there are no FDA-

approved medications to treat sleep insomnia in children.

Melatonin, considered a nutritional supplement, is widely used

in treating sleep onset issues and has shown efficacy in studies

with small samples of children with intellectual disabilities and

autism spectrum disorders.

There is a dynamic interplay between sleep in the individual

with FXS, biology and the environment. The underlying

cause/s of sleep problems require a thorough evaluation to rule

out medical factors and then to assess individual behaviors

and environmental factors, all with the goal of assuring the

development of healthy patterns for this most elemental and

restorative human activity. n

The author is an assistant professor of nursing at Duquesne

University and clinical assistant professor of pediatrics at the

Children’s Hospital of Pittsburgh of UPMC, Child Development

Unit/Fragile X Center. Email: [email protected]

ADDITIONAL RESOURCES:1. Bailey DB Jr, Raspa M, Olmsted M, Holiday DB (2008). Co-occurring conditions associated with FMR1 gene variations: Findings from a national parent survey. Am J Med Genet 146A: 2060-9.2. Hagerman, R., Berry-Kravis, E., Kaufmann, W., Ono, M., Tartaglia, N., Lachiewicx, A., et.al. (2009). Advances in the treatment of Fragile X syndrome. Pediatrics 123, 378-390.3. Kronk, R., Bishop, E., Raspa, M., Bickel, J., Mandel, D., Bailey, D., (2010) Prevalence, Nature, and Correlates of Sleep Problems in Fragile X Syndrome Based on a Large Scale Parent Survey. SLEEP, 33, pp 679-87.4. Kronk, R, Noll. R., Dahl, R (2009). Caregiver reports of sleep problems on a convenience sample of children with fragile X syndrome. American Journal on Intellectual and Developmental Disabilities 114, pp 383-392.5. Mindell, J. & Owens, J.(2010). A Clinical Guide to Pediatric Sleep: Diagnosis and Management of Sleep Problems. Wolters Kluwer/Lippincott, Williams and Wilkins.6. NIH Curriculum Supplement Series. Sleep, sleep disorders, and biological rhythm. http://science.education.nih.gov/supplements/nih3/sleep/sleep/guide/info-sleep.htm7. Weiskop S, Richdale A, Matthews J (2005). Behavioral treatment to reduce sleep problems in children with autism or fragile x syndrome. Dev Med Child Neurol 47:94-104.8. Wirojanan J, Jacquemont S, Diaz R, et al (2009). The efficacy of melatonin for sleep problems in children with autism, fragile x syndrome, or autism and fragile X syndrome. J Clin Sleep Med 5:145-50.

would also promote innovation and accountability through

demonstration grants aimed at implementing reform

strategies. n The TEAM-Empowerment Act (H.R. 604) would

amend the Developmental Disabilities Act to establish

Transition Planning and Service Divisions within the

State Developmental Disability Authorities, as well as

Individual Transition Plans to advance best outcomes

and self-determination. Additionally, the bill would

increase accountability of these authorities by providing

the Secretary of DHHS through the Commissioner of the

Administration on Developmental Disabilities (ADD)

the authority to distribute assistance to states which agree

to participate.

“For decades the rhetoric from Washington has emphasized

employment and self-sufficiency for people with disabilities,”

stated Jeffrey Cohen, Director of Government Affairs and

Advocacy for the NFXF. “Now it is time for the reality to match

the rhetoric.”

You can learn more about the TEAM Act, or follow its

progress at www.govtracker.org. More important, call your

congressmember—or better yet, visit the district office—and ask

him or her to become a co-sponsor. You can also send an email

requesting co-sponsorship at http://www.congressweb.com/cweb2/

index.cfm/siteid/nfxf. For those of you who attended Advocacy

Day in March, now is a good time to follow up with your

congressmember (again) and remind him or her there are voters in

the district who are very interested in this exciting legislation.

On the subject of Advocacy Day 2011, I would be remiss

if I did not again thank all of our 140 advocates for yet another

awe-inspiring march on Washington. We had a record crowd of

motivated FX families telling captivating, heart-felt stories to more

than 200 members of Congress, representing 32 states. But more

exciting, of those 140 advocates, more than 80 were new, making

the journey for the first time to add their unique story to the cause.

For those of you who missed it, check out the video of our day on

the public policy page of www.fragilex.org. n

The author serves as vice president of The National Fragile X

Foundation Board of Directors, where he chairs the governance

committee and chairs its public policy committee. He is a

practicing attorney in Houston, Texas.


...continued from page 9

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Sleep...

It’stimetotEAMUpforOurKids

Nonprofit Org.US POSTAGE

paidJefferson City, MO

Permit No. 210

The National Fragile X Foundation P.O. Box 37Walnut Creek, CA 94597

The National Fragile X Foundation

Len Abbeduto, PhD, Co-Chair Waisman Center University of Wisconsin

Gary Bassell, PhD Emory University, Atlanta

W. Ted Brown, MD, PhD, Co-Chair Institute for Basic Research New York

Elizabeth Berry-Kravis, MD, PhD RUSH Univ. Medical Center, Chicago

Marcia Braden, PhD Private Practice Psychologist Colorado Springs

Jonathan Cohen, MD Centre for Developmental Disability Melbourne, Australia

Kim Cornish, PhD Monash University, Melbourne, Australia

Brenda Finucane, MS Elwyn Training and Research Institute Elwyn, PA

Louise Gane, MS M.I.N.D. Institute, UC Davis

Ed Goldson, MD The Children’s Hospital, Denver

Paul Hagerman, MD, PhD UC Davis School of Medicine

Randi J. Hagerman, MD M.I.N.D. Institute, UC Davis

Deborah Hall, MD, PhD RUSH Univ. Medical Center, Chicago

Gail Harris-Schmidt, PhD Saint Xavier University, Chicago

David Hessl, PhD M.I.N.D. Institute, UC Davis

Andrew Hoogeveen, PhD Erasmus Medical Center, Rotterdam

Vanessa Johnson, PhD, MS, RN-BC University of Oklahoma, Tulsa, OK

Walter Kaufmann, MD Kennedy Krieger Institute Baltimore, MD

Frank Kooy, PhD University of Antwerp, Belgium

Ave Lachiewicz, MD Duke University Medical Center, NC

Andrew Levitas, MD University of Medicine and Dentistry Stratford, NJ

Allyn McConkie-Rosell, PhD, CGC Duke University Children’s Hospital

David Nelson, PhD Baylor College of Medicine, Houston

Lawrence M. Nelson, MD National Institutes of Health Bethesda, MD

Christopher Pearson, PhD The Hospital for Sick Children Toronto

Feliciano Ramos, MD, PhD University of Zaragoza, Spain

Karen Riley, PhD University of Denver

Sarah Scharfenaker, MA, CCC-SLP Developmental FX, Denver

Stephanie Sherman, PhD Emory University, Atlanta

Gail Spiridigliozzi, PhD Duke University Medical Center, NC

Tracy Stackhouse, MA, OTR Developmental FX, Denver

Vicki Sudhalter, PhD Institute for Basic Research, New York

Flora Tassone, PhD UC Davis Medical Center

Jeremy Turk, DCH MRC St. George’s Hospital Med. School London

Karen Usdin, PhD National Institutes of Health Bethesda, MD

Stephen Warren, PhD Emory University, Atlanta

Corrine Welt, MD Harvard Medical School

Rob Willemsen, PhD Erasmus University Rotterdam, The Netherlands

Christoff Research Fund

The Cube Fund for Research

Edward Behrman Memorial Fund

Harris Hollin Conquer Fragile X Fund

Jennifer & Kimball Silverton Fund for Research

Marlyn & Melvin Weingarden Family Support Fund

Matthew & Suzanne Kirsch Research Fund

National Fragile X Foundation Fund

Norbert Jacob Education Fund

Richard Kurtz MD Memorial Research Fund

William & Enid Rosen Research Fund

the nFXF is pleased to maintain the FolloWing Funds in support oF our mission:

scientiFic & clinical adVisory committeeboard oF directors

PresidentMichael Kelley, Maryland

Vice PresidentBrad Whitus, Texas

TreasurerMarty Lang, Wisconsin

SecretaryJoseph Christoff, Indiana

Elizabeth Berry-Kravis, MD, PhD Illinois

Al Blount, Maryland

Theodore Coutilish, Michigan

Mark Dissette, Florida

Margaret Israel, Missouri

David Justus, California

Deborah Kwan, California

Kimberly Miller, Georgia

JC Planas, Florida

Katherine Roeders, Wisconsin

Jennifer Silverton, Michigan

eXecutiVe director

Robert M. Miller

emeritus directors

Honorable Harris Hollin

Randi J. Hagerman, MD

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