L O O S E CONNECTIONS

The Magazine About Living With EDS Spring 2011

2011 Conference: Perspective Sandra A. Chack ............................................................................... 2

Kids & Teens Shira Saperstein ................................................................................................. 5

List of Speakers/Featured Biographies: First-time Speakers ................................................6/7

Frequently Asked Questions (and Answers)/Schedule & A Sampling of Session Titles .....8/9

Volunteer Spotlight: Jon Rodis ...................................................................................................... 10

From the Editor’s Desk: “Why Me! Why Not Me?” Mark C. Martino ............................................ 11

Salt Sara Elaine Strecker .................................................................................................................. 13

Ehlers-Danlos Syndrome and Kids Claire B. Forst .......................................................................... 14

Hope for vEDS Treatment? Amy Bianco ......................................................................................... 16

Joint Hypermobility Handbook: A Review Amy Bianco ................................................................. 18

Publisher’s Index/Staff and Credits ................................................................................................ 20

SPRING 2011PAGE 2

THE EDNF 2011 National Learning Conference is coming up fast! This year’s

event promises to be the best ever. It is an opportunity to hear the leading experts in the fields of research and care, to ask questions, to see old friends and make new ones, to be surrounded by people who understand, and to have an amazing weekend filled with learning and fun. Don’t miss it!

The speakers

Our speaker list is truly outstanding, including most of the favorites from years past as well as some illustrious newcomers. We are so grateful to all who meet with us to share their knowledge and caring with our EDS community. Click here for the Speaker List Web page. Click here for the Speaker Biographies Web page.

The topics

Because we are fortunate to have many of the leading EDS experts in the country presenting (as well as the renowned Dr. Grahame from the UK), the range of topics covered will be very broad. We will have the opportunity to learn more about:

• General EDS issues, such as pain, chronic fatigue, and sleep disorders;

• More specialized topics such as tethered cord, cervical cranial instability, women’s health, POTS, orthopedic surgery, and TMJ;

• Progress in management of vascular issues, and foot and ankle care;

• Living with EDS, including sessions about physical therapy, taking con-trol of your health care, parenting, and self-management;

• Discussion groups for VEDS, newly diag-nosed, caregivers, and older teens and young adults.

And this is only a partial list! Please check the web site regularly for updates. The schedule with session titles will be posted soon.

The consultations

Several of our physicians have volunteered to see patients for brief consultations on Thursday afternoon. This is an incredible opportunity to ask questions you have been unable to get answered elsewhere. If you would like to speak with one of the doctors, please fill out an application. There are limited spots available, so don’t delay! Click here for an application (PDF).

The venue

This year we will be at the beautiful Hilton Baltimore. It is a new and spacious hotel, with all the amenities you could want. We looked at many properties before choosing the Hilton,

2011 Learning ConferenceHilton Baltimore Baltimore, Maryland July 21-23

(continued)

SPRING 2011PAGE 3

and it was by far the best for our needs. The large meeting rooms are clustered together, there are ample elevators, the chairs are comfortable, the guest rooms are lovely, and the pool even has a chair lift!

Located at the Inner Harbor, there is much to do and see in the area. Great restaurants and shops, theatre, boating, the National Aquarium, Fort McHenry — and the Orioles are playing at Camden Yards both Friday and Saturday!

The activities

While the consultations will take place on Thursday afternoon, the conference officially kicks off with the Welcome Reception Thursday evening. This is a chance to have a drink, get a nibble, catch up with those friends you haven’t seen since last year, and meet some great new people. (We will make sure to have more chairs and tables this year!)

We will once again hold a silent auction on Saturday. A large portion of the proceeds of the auction go to fund scholarships for future conferences, so we are hoping to raise a lot of money! Please consider donating items to be auctioned. Anything “zebra” is always a hit, but there are many great ideas. Think gift baskets, jewelry, artwork, etc. It is also very easy to ask merchants you know for goods, and gives you the opportunity to educate someone about EDS in the process.

Aquatic exercise will be held in the pool, so don’t forget your swimsuit!

The closing banquet on Saturday evening is when we all gather to wrap up the amazing weekend. (Many people like to dress up a bit for this event.) Hope to see you all in July!

Sandra A. ChackConference Director

2011 Learning ConferenceHilton Baltimore § Baltimore, Maryland § July 21-23

Conference General Information

Frequently Asked Questions

Things to Do in Baltimore

Baltimore Travel Information

Conference Schedule

Speaker List

Speaker Biographies

2011 Handouts (coming soon)

Sponsor Listing

Physician Consultations

Partnership Opportunities

Memorials/Scholarship Project

Registration Information

Web Pages

(continued from page 2)

SPRING 2011PAGE 4

2011 Learning ConferenceHilton Baltimore § Baltimore, Maryland § July 21-23

EDNF looks forward to welcoming our 2011 Learning Conference Partners

Signage Sponsor

All attendees will receive Purdue’s In the Face of Pain Resource Guide for People with Pain, to help people with pain and their caregivers face the challenges so often encountered by those who suffer from pain.

Exhibitors

Bauerfeind USA

BioMat

Calmoseptine

Serola Biomechanics

Silver Ring Splint Company

To sponsor and/or exhibit, please contact EDNF Headquarters, Lesa Faris, 703-506-3271 or ednfstaff@ednf.org.

SPRING 2011PAGE 5

We are planning a lot of really cool activities for the EDNF Teens & Kids program at the conference.

•We have “Canines for Disabled Kids” coming to teach us all about the benefits of having a service dog, as well as how to get one. They will also be teaching us the legal and practical issues regarding owning and training a service dog.

• “Johns Hopkins CARES Mobile Safety Center” is coming to teach us all about safety in the home. This is an interactive program for kids but also for parents to learn how to keep the home environment as safe as possible.

•A Baltimore City ambulance and EMT crew is coming to show us the ins-and-outs of an ambulance.

There are even more activities being planned. We are looking forward to seeing you this summer!!

— Shira Saperstein

Consider seeing a Major League Baseball Game while you are in Baltimore!Click here to purchase tickets for Friday’s game (July 22) — Orioles vs. Angels @ 7:05 p.m.

EDNFKids & Teens

2011 Learning ConferenceHilton Baltimore § Baltimore, Maryland § July 21-23

TM

SPRING 2011PAGE 6

2011 Learning ConferenceHilton Baltimore § Baltimore, Maryland § July 21-23

List of Speakers• Patrick Agnew, DPM, Podiatry• James H. Black III, MD, FACS, Vascular Surgery,

Johns Hopkins• Jan Dommerholt, PT, DPT, MPS, DAAPM,

Bethesda Physiocare• Joseph M. Ernest, MD, Obstetrics and

Gynecology, Carolinas Medical Center• Clair Francomano, MD, Director of Adult

Harvey Genetics program at Greater Baltimore Medical Center, associate professor Johns Hopkins

• Rodney Grahame, CBE, MD, FRCP, FACP, Consultant Rheumatologist University College Hospital and Honorary Professor at University College London in the Department of Medicine; Affiliate Professor of Pathology, School of Medicine, University of Washington

• Sarah Gurley-Green• Frank N.H. Harrison, Jr., MD, Vice Chairman

for Administrative Affairs, Director of Gynecology and Co-Director, Division of Ambulatory Care, Carolinas Medical Center

• Fraser Henderson, MD, Director of Neurosurgery at Doctors Hospital and Director of the Chiari Center of Excellence

• Bradley S. Hurst, MD, Associate Director of Reproductive Endocrinology, Carolinas Medical Center, Charlotte, North Carolina

• Candace Ireton, MD, Family Practice• Kathleen Kane, JD• Howard Levy, MD, PhD, Assistant Professor

Internal Medicine and McCusick-Nathan F. Institute of Genetic Medicine, Clinical Director of Johns Hopkins Internal Medicine at Greenspring Station, MD

• Trish Magyari, MS, CGC, Integrative Medicine, University of Maryland School of Medicine

• Nazli McDonnell, MD, PhD, Clinical Genetics, National Institute on Aging (NIA)

• Edward G. McFarland, MD, The Wayne H. Lewis Professor of Orthopaedic and Shoulder Surgery, Division of Shoulder Surgery; Vice-Chairman, Adult Reconstruction, Johns Hopkins University

• John Mitakides, DDS• Jonah Murdock, MD, PhD, Mid-Atlantic

Urology Associates• Sabrina M. Neeley, PhD, MPH, Assistant

Professor, Center for Global Health Faculty Advisor, Boonshoft Physician Leadership Development Program

• Alan Pocinki, MD, FACP• Jonathan Rodis, MBA• Peter Rowe, MD, Professor of Pediatrics, Johns

Hopkins• Brad T. Tinkle, MD, PhD, Genetic Specialist,

Cincinnati Children’s Hospital• Kathleen Zonarich, P.T., Physical Therapy

EDNF member ...........................$350

Non-members .............................$375

Kids & Teens (age 6–14) ...........$150Age 15 and over must register as an adult

Age 5 and under ....................... FREE

Included are Welcome Reception Thursday evening; Continental breakfast & lunch on Friday; Continental breakfast, lunch & banquet dinner on Saturday.

To make your hotel reservation, please click here to do so online or call Hilton reservations at 888-243-9694 and ask for the special EDNF rate, available until June 17 or until block is sold out.

CLICK HERE TO REGISTER ONLINE THROUGH JULY 18

SPRING 2011PAGE 7

2011 Learning ConferenceHilton Baltimore § Baltimore, Maryland § July 21-23

Featured BiographiesFirst-time Speakers

Jan Dommerholt, PT, DPT, MPS, DAAPM, is a Dutch-trained physical therapist who holds a Master of Professional Studies degree with a concentration in biomechanical trauma and health care administration, and a Doctorate in Physical Therapy from the University of St. Augustine for Health Sciences. Dr. Dommerholt has taught many courses and lectured at conferences throughout the United States, Europe, South America, and the Middle East while maintaining an active clinical practice. He is on the editorial board of several medical journals in the US and Europe.

He has authored many chapters and articles on myofascial pain, fibromyalgia, complex regional pain syndrome, and performing arts physical therapy, and prepares a quarterly literature review column on myofascial pain for the Journal of Musculoskeletal Pain. He works closely with Drs. Fraser Henderson and Claire Francomano and sees many patients diagnosed with EDS. Dr. Dommerholt is president of Bethesda Physiocare® and Myopain Seminars.

Sarah Gurley-Green is a writer and patient advocate. She was chairperson for many years of the Hypermobility Syndrome Association (HMSA), a medical charity for the promotion of understanding about hypermobility and patient support and education. Her work with chronic pain and chronic illness patients focuses on developing strong voices and self-advocacy through various modalities. Sarah's writing on patient issues has appeared in various medical publications, including Hypermobility Syndrome (2003) and Hypermobility, Fibromyalgia and Chronic Pain

(2010). Her published work outside of this sphere includes opinion pieces, and articles on music, food, politics and culture. She has a BA from Bryn Mawr College and an MA from the University of London. She is currently working on graduate studies in Literature and Medicine.

Frank N.H. Harrison, Jr., MD, completed medical school at the Medical College of Georgia in 1973. He graduated from Charlotte Memorial Hospital Residency Training Program in 1977. Dr. Harrison started the private practice of Eastover OB/GYN in 1977. In 1988, Dr. Harrison joined the full-time faculty in the Department of OB/GYN at Carolinas Medical Center where he has served as the Vice Chairman for Administrative Affairs, Director of Gynecology and Co-Director, Division of Ambulatory Care.

Dr. Harrison is a member of the American College of Obstetrics and Gynecology, American Medical Association, North Carolina Medical Society, Southeastern Ob/GYN Society, Mecklenburg County Medical Society and he served as President for the South Atlantic Association of Obstetricians and Gynecologists from 2010-2011. Dr. Harrison's primary interests are in general gynecology and gynecologic surgery.

Visit EDNF on

Over 3,000 fans!

SPRING 2011PAGE 8

2011 Learning ConferenceHilton Baltimore § Baltimore, Maryland § July 21-23

Some Frequently Asked Question (and Answers)Which meals are included?

There will be continental breakfast and lunch on Friday, July 22; and continental breakfast, lunch and banquet dinner on Saturday, July 23.

What about those who have special diet requirements?

We have made a few special arrangements to meet the dietary needs of those attending the conference. At all meals provided as part of the conference package, there will be vegetarian and gluten-free choices and all buffet items will include ingredient lists. The food handlers will be latex-free to accommodate for anyone with latex sensitivity.

Did you know medical conferences may be tax deductible?

According to the Internal Revenue Service's web site at http://www.irs.gov/publications/p502/ar02.html, "you can include in medical expenses amounts paid for admission and transportation to a medical conference if the medical conference concerns the chronic illness of yourself, your spouse, or your dependent. The costs of the medical conference must be primarily for and necessary to the medical care of you, your spouse, or your dependent. The majority of the time spent at the conference must be spent attending sessions on medical information."

What is the appropriate dress for the conference?

Dress at the conference includes the word comfortable! We are there to learn and to do so, you need to be in comfortable attire with any accoutrements, including needed cushions, etc. that enable you to sit and listen to our speakers.

Our night to shine is the banquet on Saturday evening. Many enjoy dressing up for the occasion; after all, we EDSers love a chance to sparkle.

EDNF's Learning Conference is Paper-Light

We are trying to reduce the amount of paper used at our conference. This is an effort to be responsible environmental stewards. Electronic program materials will replace paper and will be accessible online before, during and after the program here on the EDNF Conference web site or by clicking "2011 Handouts" in the Conference menu along the left side of the page. Please be sure to print the materials you want before the conference as there will be no onsite handouts once we are in Baltimore.

Will there be time for Q and A of our speakers?

There will be lots of time for Q and A of our amazing speakers. Consider asking questions pertinent to many when a large audience is involved and save your more personal questions for individual opportunities with our presenters.

SPRING 2011PAGE 9

2011 Learning ConferenceHilton Baltimore § Baltimore, Maryland § July 21-23

ScheduleTimes and events subject to change.

Thursday, July 21

12noon–7:00pm Registration Open1:00–4:00pm Physician Consultations6:00–7:30pm Welcome Reception

Friday, July 22

7:30am–5:00pm Registration Open7:30–8:15am Continental Breakfast8:15–8:45am Welcome and

Announcements8:45–10:30am Keynote Session10:30–10:45am Refreshment Break10:45am–4:00pm Kids & Teens Program

(various times)12:30–1:30pm Lunch10:45am–6:00pm Concurrent Sessions3:00–3:15pm Refreshment Break5:00–6:00pm Aquatic Exercise

In addition to the events listed here, on Friday evening there will be a memorial service, along with discussion groups, a physicians' Q&A and a Kids and Teens activity TBD.

Saturday, July 23

7:30am–12noon Registration Open7:30–8:15am Continental Breakfast8:15–8:30am Welcome and

Announcements8:30–9:30am Keynote Session9:30am–6:00pm Concurrent Sessions9:30am–4:00pm Kids & Teens (various

times)11:30am–1:00pm Lunch2:45–3:00pm Refreshment Break4:15–5:15pm Aquatic Exercise6:00–9:00pm Banquet

Note: Conference badges must worn for all events and meal tickets presented at the door. If you wish to purchase additional meal tickets, you may do so online.

A SAMPLING OF SESSION TITLESEhlers-Danlos Syndrome: Update 2011 — Dr. Clair

FrancomanoChronic Fatigue in EDS — Dr. Peter RoweFertility Issues in EDS — Dr. Brad HurstPregnancy Issues in EDS — Dr. Joseph ErnestGynecological Issues in EDS — Dr. Frank HarrisonUrologic Manifestations of Tethered Cord

Syndrome — Dr. Jonah MurdockParenting and EDS — Dr. Candace Ireton (with Kim

Schmidt)Emerging Technologies for Foot and Ankle Care — Dr.

Patrick AgnewSleep Disorders in Hypermobility Syndrome — Dr. Alan

Pocinki

Update 2011: Progress in Management of Vascular Issues in EDS — Dr. James Black

Physical Therapy Management of Persons with EDS — Dr. Jan Dommerholt

Living with EDS: Developing an Effective Self-Management Strategy to Maximize your Health and Quality of Life — Dr. Sabrina Neeley

Building a Successful Exercise Program in the EDS Population — Kathleen Zonarich

PATIENT Does Not Mean Passive: Taking Control of Your Healthcare Without Illness Controlling Your Life — Sarah Gurley-Green

Applying for Disability — Jon Rodis and Kathleen Kane

SPRING 2011PAGE 10

VOLUNTEER SPOTLIGHT: JON RODIS

JONATHAN Rodis is a volunteer support member of EDNF. Since becoming disabled

in 2001 from a condition known as Marfan syndrome, Mr. Rodis has used his passion, determination and years of management and problem-solving experience to help improve a number of the areas he found to be most troublesome for people like him who have to deal with a variety of health problems.

The first area Mr. Rodis chose to tackle was the social security process. He wanted to make the process a lot easier for people and help improve their chances for approval. He created a disability checklist and a web site that would detail the steps he used to get early approval and the information that was necessary for everyone to understand what a person with a rare disorder goes through and the many challenges they face. This knowledge and continued study of the system, has allowed him to share what works and what to avoid with the EDNF and all its members.

The second area that he took on was finding a way to improve the medical awareness of my

condition among the medical community and the community as a whole in his home state of Massachusetts. He needed to find a way to reach the medical community but knew that as a “layman” his chances were very slim. This is when the light went on and he said to himself, “Who will doctors listen to?” Another doctor.

From this idea, he formed a “Physicians Awareness Committee” which consisted of doctors experienced with his condition who would go to other hospitals and give presentations on the condition to a variety of specialties at a number of different venues. This formula has been very successful to date.

Mr. Rodis would be happy to help anyone who needs his support, whether it be with Social Security disability, initiatives to improve medical awareness, starting or strengthening a support group, sharing fundraising ideas, or anything that is on your mind. Since he travels quite a bit, he is also available to meet with local members of the states he visits. You may contact Jon via email at WSALMGCDJM@aol.com.

The online community for everyone with EDS is growing!

Join the hundreds on the new message boards. Keep your discussions as private

as you want them to be!

SPRING 2011PAGE 11

OVER these past few years, we have often written about why advocacy should be an

important part of your life. People with EDS like you and me are faced with widespread ignorance and lack of understanding. Advocacy for EDS means speaking out when you find an issue of concern that will affect EDSers, and speaking out to those who might be able to help change that issue. Advocacy can be as bold as organizing a statewide benefit run, or trying to get hypermobility tested as part of your state’s school sports exams. It can be a simple as making sure your doctor’s office is aware that anyone with EDS should be handled with care, and should be helped with pain management in most cases.

No one will know what your life is like — what you think, feel, need — unless you tell them. Everyone will think you’re fine and that everything’s OK, unless you let them know otherwise. If you don’t say something when you’re in the dentist’s chair for two hours without enough anesthesia, then they’ll always think the normal dose is alright for you and any other EDSers. When you see someone demonstrating a double-jointed trick, say something, or they’ll go on believing demonstrations don’t matter to their health, and so will everyone watching. 

One of the most obvious efforts to stand up for everyone with EDS has been EDS Awareness Month in May. From EDNF’s first visionary efforts, this has grown to a national drive. But

FROM THE EDITOR’S DESK: “WHY ME! WHY NOT ME?”

every little thing we do also helps in very real ways. Even your interaction with your medical team can be considered advocacy. It’s easy to hate breaking a new doctor or nurse; but almost every one of them will recognize they had someone with EDS before and didn’t recognize it, and each one that you teach makes life easier for the next EDSer they treat.

Speaking up for yourself will help others like you. Speaking up for others can give you the strength to speak up for yourself. Helen Keller said, “I am only one, but still I am one. I cannot

do everything, but still I can do something; and because I cannot do everything, I will not refuse to do something that I can do.”

All of us have been forced to admit, “I am sick.” It’s important to consider the opposite, too: “I am not sick.” Is

it our entire body that’s sick? We may still be able to use a keyboard online, listen to or write music, contemplate art or paint. Are our minds sick, or can we still think and speak? What about our hearts, do we still care and love? The more you believe, “I am sick,” the more true it becomes. And the more you can realize, “I am not sick,” the better you’ll feel.

Although I hate that EDS has taken away my ability to do some things I dearly loved and made it impossible for me to work for very long at a stretch, one of the things I love about having EDS now is that I can use what time I

“The more you believe, ‘I am sick,’ the more true it becomes. And

the more you can realize, ‘I am not sick,’ the better you’ll feel.”

(continued)

SPRING 2011PAGE 12

do have to accomplish something meaningful. I’ve found that a useful way to feel whole and to heal has been to expand my advocacy into areas not connected to EDS. There is something wonderful about being part of a group of normal — and normally healthy — people who are doing great things together that aren’t related to being people with EDS. I do have to remind myself often to remember the golden rule of moderation, which includes giving up the idea that I can still be the overachiever I used to be, but a lot of good can be done in steady, short bursts.

There is a meditation technique, a compassion practice from the Tibetan Buddhist tradition called tonglen.

Among your (probably many) attempts at self-help and healing, you’ve likely encountered the usual instructions of breathing in peaceful, healing thoughts and images, and then breathing out your physical and mental suffering. Tonglen practice is the opposite, a reversal of ego. Breathe in the suffering of the world; breathe out kindness, serenity, compassion. In How To Be Sick: A Buddhist-Inspired Guide for the Chronically Ill and Their Caregivers, Toni Bernhard says:

“The effect of repeated practice is that we connect with our own suffering, anguish, stress, discomfort. So as we breathe in the suffering of others concerning a struggle we share with them, we are breathing in our own suffering over that struggle as well. As we breathe out whatever measure of kindness, serenity and compassion we have to give, we are offering those sublime states to our selves, too. All beings are included.”

This is the essence, in meditative form, of what advocacy does for me, and can do for you. Breathe in the ills and suffering of the world,

issues you share with those around you; and through taking action and helping others, you will find you can breathe out compassion for everyone, including yourself. Advocacy can help you realize you don’t have to be a victim of EDS, you can simply be. You are a person who happens to have EDS, a person who has enormous strength to endure, a person who has a wonderful life and who has unconditional love for yourself and all life.

In sickness and in health, I wish you peace and ease of being, and that you reach the end of suffering and be free.

Mark C. MartinoEditor/Graphics Designer

EverythingJust as it is,as it is,as is.Flowers in bloom.Nothing to add.Robert Aitken

(continued from page 11)

SPRING 2011PAGE 13

ON January 14, 2011, the American Heart Association called for all Americans to

further reduce their salt intake. As I type this, I just heard a commercial on the radio about Boars Head Deli Meats cutting the salt in their deli meats. It seems that everyone is out to oust salt.

I understand the reasoning behind this. I get it. Salt can contribute to high blood pressure, stokes, heart attacks, and kidney disease. Nobody wants those diseases. But what about someone like me?

I have Postural Orthostatic Tachycardia Syndrome (POTS) which is a common condition in patients with Ehlers-Danlos Syndrome. My veins are too stretchy, so when I stand up the blood ends up in my legs instead of in my brain. This sends my body into shock because it thinks I’ve suddenly lost a lot of blood. So why am I telling you this?

One of the treatments for POTS is salt. Lots and lots of salt. The new recommended daily allowance of salt is 1500 milligrams. I’m supposed to have almost 10,000 milligrams. Almost seven times as much. I salt everything. I salt my French fries. I salt my pretzels. Some people with POTS even add salt to Gatorade or water.

People look at me in awe and watch me eat my doubly salted fries. Some people have told me

SALT

I have to be careful or else I’ll get high blood pressure. I actually wonder sometimes if that would help. Right now my blood pressure is too low and it gets even lower when I stand up. Salt counteracts this a little bit, as does some other medications I take. Before I knew I had POTS I salted everything anyway; little did I know there was a medical reason for it!

I used to be able to count on deli meats and frozen dinners to supplement my salt intake, along with copious amounts of pretzels. Apparently my favorite meal at Olive Garden, “The Tour of Italy,” is one of the five greatest “offenders” when it comes to high salt dishes, at least according to Newsweek. I guess I need

to order it more often, and add some extra salt.

But what is going to happen when these government guidelines go into effect? What are us POTS patients supposed to do when our salt is taken away from us? I wonder

if salt will become the new tobacco; banned from consumption in restaurants. Will I need a prescription from my doctor to get my daily amount of salt? I hope it never comes to that.

For now, I will salt my salt and consciously look for the saltiest foods. Those big offenders according to the American Heart Association are our biggest allies.

Sara Elaine Strecker

“I salt everything. I salt

my French fries. I salt

my pretzels. Some people with POTS even add salt

to Gatorade or water.

SPRING 2011PAGE 14

THERE are many types of EDS and kids are the ones whom are the ones most touched

by them.

Our daughter Charnie began having symptoms when she was only a toddler of two. The pain began a few years later. Doctor after doctor gave us wild diagnosis and many even told us that “it was all in her head.” How many have heard that wisdom! Surprisingly, she still remembers many of the “specialists” we saw and the tears she shed after the appointments. Several stand out in her mind, and she is now a married lady of 24, so we are surprised that these moments of emotional moments have stayed with her.

The first of several examples is the Chief of Rheumatology at Columbia University P&S. My daughter was five years old and we waited over five hours to see him. Our pediatrician sent a ream of her file to validate her symptoms. Unfortunately, he only glanced at the reports and notes along with the report her doctor had sent. His great piece of wisdom was if she was in such pain and couldn't walk, drag her up off the street and force her to “get going.” He thought that he would pacify her by giving her a white balloon. At age five she was smart enough to tell him she didn't want his balloon and stuck a pencil into it to burst it. His residents and fellows were aghast, but he just laughed. I didn't pay his bill and told his secretary why. Surprisingly, she agreed.

I cannot count how many times my daughter woke in excruciating agony in her knees and

EHLERS-DANLOS SYNDROME & KIDS

begged her father to help her but not to touch her. He managed to massage with heat until she fell asleep crying. One time stands out in our minds: a Friday night when Charnie was lying on the carpet screaming so in pain, that the neighbors on the block heard her. My husband carried her up to her bedroom and all she wanted was for us to sit with her while she cried so as not to be alone.

When she was eight years old, we were referred to the Chief of Pediatric Rheumatology at Mount Sinai Hospital. This time doctors were taking her seriously and we hoped this doctor

would be different. How foolish we were; he may have been the worst of the bunch. After manipulating her joints for several hours and causing her terrible pain, Dr. X said, “Well, you know she has Ehlers-Danlos syndrome.” I

am an RN; Charnie’s pediatrician had told me to play stupid so that maybe we would get a normal diagnosis, and I said that I never heard of the illness. He was obnoxious and hurtful both physically and emotionally to her and I ended up carrying her five blocks from the private bus line to our home…remember, she was eight years old…no small feat. Her doctor had an idea that she had EDS and we went up to The Medical Center of the University of Connecticut to have her tissue typed by Dr. Petros Tseporus; we finally heard that she had types one and three.

“If she was in such pain

and couldn’t walk, drag

her up off the street and

force her to ‘get going.’”

(continued)

SPRING 2011PAGE 15

Charnie is a real trooper and never let the pain stop her from life. When she met her husband, she told him to read the stacks of paper about EDS; and if he still wanted to marry her, knowing that EDS one and three are dominant genetically, she would be thrilled to be his wife. Being the wonderful person he is, the only thing he said was that if she were so afraid of passing it on, they would adopt children.

They are married less than a year. She still has pain, but not to the degree that she did as a child,and when her joints come out, Ariel knows how to pop them back in: no fuss, just part of life.

Claire B. ForstIf you have stories about life with EDS, questions, comments, or things you wish to discuss, please write me, Claire B. Forst RN,MSN,MS either at my home address, 357 Argyle Road, Cedarhurst NY 11516, or my email address Bestinblack1@aol.com.

Q. A recent MRI showed I have Chiari Malformation Type I, but I don’t have

any symptoms. Should I see a doctor?

A. Chiari Malformation Type 1 (CIM) occurs when the cerebellum—the lowest

part of the brain, which controls balance and coordination—descends through the opening in the bottom of the skull. As a result, the cerebellum is forced into the area between the brain and spinal canal (called the foramen magnum), which is filled with cerebrospinal fluid. This may cause a blockage in the normal flow of the cerebrospinal fluid between the brain and the spinal canal resulting in headaches, neck pain, and vision and hearing problems.

It had been estimated that CIMs occur in one in every 1,000 births. However, the increased use of diagnostic imaging suggests CIMs may be more common, according to the National Institute of Neurological Disorders and Stroke web site (ninds.nih.gov).

If a patient has a relatively mild CIM without symptoms that is discovered incidentally, I would recommend observation of the CIM but not surgery. If the patient has a large CIM as well as a syrinx—when the cerebrospinal fluid enters the spinal cord because of an obstruc-

tion in its normal flow—I recommend surgery. A CIM and syrinx left untreated can injure the spinal cord tissue and cause neurologic prob-lems, such as weakness in the arms or legs, bowel or bladder problems, and pain. Even in the absence of these symptoms, I recommend surgery if the patient has both a large CIM and syrinx to prevent any long-term neurologic complications.

Langston Holly, M.D., is associate professor and co-vice chief of clinical affairs for the department of neurosurgery at the University of California Health System, and a member of the Comprehen-sive Spine Center in Santa Monica, CA. ©2011 American Academy of Neurology

ASK AN EXPERT: Chiari Malformation

(continued from page 14)

SPRING 2011PAGE 16

A EUROPEAN study1 published last Fall in The Lancet has raised hopes that the

search for an effective prophylactic treatment for vascular Ehlers-Danlos syndrome may be on. Researchers in France and Belgium gave the beta blocker celiprolol to 25 patients randomly assigned to a treatment group, while 28 untreated patients were followed as controls. After five years, five (20%) patients in the treatment group had experienced arterial dissection or rupture, as compared to 14 (50%) patients in the control group. Thus the authors postulate that celiprolol could reduce major adverse events in vEDS patients by 60%.

As promising as this result appears, vEDS patients will not routinely be given celiprolol any time soon, at least in the U.S. The drug is not available here, and as Dr. Hal Dietz of Johns Hopkins University, a leading researcher on the cardiovascular aspects of HDCTs says, this study has a number of important limitations. It is very small. While the authors say that the trial was ended prematurely because of treatment benefit, they also acknowledge that it had to be stopped because there were too few controls left and they had not met their recruitment goals. Another problem was that although the patients were selected for the trial based on the Villefranche criteria for vEDS, only a subset of them had proven COL3A1 mutations; and a disproportionate number of these were assigned to the treatment group. As Dr. Benjamin S. Brooke of Johns Hopkins pointed out in a commentary2 that was published

HOPE FOR VEDS TREATMENT?

in the same issue of The Lancet, it is possible that the patients without proven mutations actually had Loeys-Dietz syndrome or some other connective tissue disorder. Dr. Dietz suggests, in this light, that it is possible that patients assigned to the control group did worse simply based on their underlying diagnosis, as opposed to any ascribed treatment effect in the celiprolol group.

Although this trial does not offer any definitive answers for vEDS patients, it does contribute to a growing consensus among researchers that beta blockers and similar drugs have an

important role to play in the study of the cardiovascular aspects of HDCTs, and perhaps their eventual treatment. The most significant result of the Ong et al. study is that the authors were able to conclude that the apparent benefit

conferred by celiprolol was not attributable to its anti-hypertensive effect. The patients in the study did not have high blood pressure to begin with, and celiprolol did not lower their blood pressure. Thus the authors of the study propose that the administration of celiprolol actually strengthened the architecture of the patients’ arteries. Taking a cue from the important work that Dr. Dietz, Dr. Brooke, and others have been doing in Marfan syndrome, they speculate that this strengthening might occur through what is known as the TGFβ pathway. It has been well described that in Marfan syndrome, the activity of transforming growth factor β (TGFβ)

“If she was in such pain

and couldn’t walk, drag

her up off the street and

force her to ‘get going.’”

(continued)

SPRING 2011PAGE 17

is altered by the mutation in the fibrillin-1 (FBN1) gene that causes the syndrome, leading to dilation and weakening of the aortic root, among other effects characteristic of the disease. TGFβ also affects collagen synthesis, so Ong et al. propose tentatively that celiprolol might, by increasing expression of TGFβ, thus be upregulating collagen synthesis in the blood vessels of vEDS patients. It is also been described that at least some beta blockers can reduce TGFβ signaling, which would align with the proposed treatment effect of cardiovascular medications in Marfan syndrome.

It remains to be seen whether celiprolol will develop into an effective treatment for vEDS, but it is reasonable to hope that by studying the molecular pathways by which blood vessels are formed and repaired in patients with HDCTs, researchers will find an effective treatment for vEDS in the not-too-distant future. We can take heart from the steady progress that is being made with Marfan syndrome. It was only in 2006 that Dr. Dietz and his colleagues published a mouse model for Marfan3, in which they demonstrated that losartan, an angiotensin II type 1 blocker, could slow the rate of aortic-root dilation by decreasing TGFβ signaling. A small pilot study of Marfan patients treated

with losartan confirming this result followed quickly4, and full enrollment for a larger trial has just been reached. Vascular EDS is much rarer than Marfan, and the fragility of the blood vessels in vEDS patients makes it more difficult to study them; but Dr. Dietz is optimistic that the road toward an effective treatment for this devastating condition has been identified. The first step is the development of a mouse model, which he expects to see within six months. We will keep you posted.

Amy BiancoEditor, Medical Section

Footnotes

1Ong et al.: “Effect of celiprolol on prevention of cardiovascular events in vascular Ehlers-Danlos syndrome: a prospective randomised, open, blinded-endpoints trial,” The Lancet 376:1476–84, 2010.

2Brooke BS: “Celiprolol therapy for vascular Ehlers-Danlos syndrome,” The Lancet 376:1443-44, 2010.

3Habashi JP et al.: “Losartan, an AT1 antagonist, prevents aortic aneurysm in a mouse model of Marfan syndrome,” Science 312:117, 2006.

4Brooke BS et al.: “Angiotensin II blockade and aortic-root dilation in Marfan’s syndrome,” New England Journal of Medicine 358:2787-95, 2008.

NEW BLOG — Zebra Patient: Triumphing over Chronic and Rare DiseasesTen Things You Need To Stay Alive And Functional With A Rare Disease

1. Pay attention to your body. 2. Don’t think your first specialist is going to

cure you — or even diagnose you correctly. 3. Remember, you have to live with your

symptoms and disorder, not the clinicians.4. Know how to give a good history. 5. Arrive at your appointments armed to the

teeth with data.

6. Be better informed than your specialists. Read up on — and insist on — specific treatments that your specialists might not know about.

7. Think way outside the box.8. Enroll in clinical trials for experimental

therapies. Go to http://clinicaltrials.gov/. 9. Be willing to risk “Hail Mary” treatments. 10. Learn how to pick the brains of every

specialist you meet.Extracted from http://www.zebrapatient.org/.

(continued from page 16)

SPRING 2011PAGE 18

Joint Hypermobility Handbook: A Guide for the Issues & Management of Ehlers-Danlos Syndrome Hypermobility Type and the Hypermobility Syndrome (Brad T. Tinkle, MD, PhD; Left Paw Press, 978-0-9825771-5-8)

OUR very own Professional Advisory Network Chairman Dr. Brad Tinkle

has published a substantial revision of his successful guide, Joint Hypermobility. The new book includes many important research findings from the past several years. As Dr. Tinkle explains in the introduction, he has also taken pains to incorporate much of the feedback he received from his earlier book. And unlike the earlier book, this one contains some chapters contributed by others, primarily on aspects of coping. The result is a truly comprehensive guide that classic and hypermobile types alike will find useful.

The book is well organized into seven sections with short, straightforward chapters on discrete topics, which makes it handy as a reference. It is worth reading through, however, as it covers the various aspects of hypermobility in a logical sequence. One of the best sections is on the musculoskeletal system, which goes through the body from the jaw to the feet, and also discusses broader issues such as bone loss and arthritis. Many of these chapters are carried over from the earlier book, but in almost every

JOINT HYPERMOBILITY HANDBOOK: A REVIEW

case they have been updated with new material, and many have been enhanced with helpful new graphics. A new chapter on the neck offers a detailed explanation of ligamentous laxity of the cervical spine and how it can lead to chronic headache. There are also new chapters on the elbow, chest and ribs, and the pelvis. The chapter on foot and ankle issues, which is not new, is especially thorough.

While it is helpful to hear or read descriptions of the myriad ways hypermobility manifests itself, it is much more difficult to find or accept advice on what to do about its effects. Standard interventions like surgery, or even physical therapy, often seem to present EDSers with a damned-if-you-do-and-damned-if-you-don’t dilemma. Dr. Tinkle does a remarkably good job of patiently teasing apart this therapeutic knot, body part by body part. Every patient is different, and with EDS it seems that someone is always moving the goalposts, but that doesn’t mean that nothing

has been learned. While he makes it clear in his introduction that his book is no substitute for personal guidance from one’s own physician, Dr. Tinkle gives the reader the benefit of his considerable experience with EDS.

This is of great value, since we cannot expect to find published studies on every aspect of EDS.

(continued)

SPRING 2011PAGE 19

Dr. Tinkle makes it clear where he is drawing on his own experience to fill gaps in the literature or standard practice by the use of italics. For example, in the chapter “Chest/Ribs” he says on page 49, regarding rib dislocation: “In my experience, many healthcare providers including orthopedists do not know how to reduce a dislocated rib. I have had more success with a well-experienced physical therapist or a chiropractor. In rare cases such as continued pain or recurrent dislocation, surgery may be required.” And regarding dislocated hips he says on page 55: “I would not argue with an orthopedist whether a hip can and is dislocated but similar to the shoulder, I have seen patients with EDS voluntarily displace (dislocate?) their hip much in the same way as some with EDS can do with their shoulder.”

Explanations of various therapeutic approaches have been gathered into a section called “Pain and Pain Management,” and here again, Dr. Tinkle carefully differentiates between which techniques (or their aspects) can be helpful and which are not advised for hypermobile patients. For example, in the chapter “Chiropractic Care,” on page 103 Dr. Tinkle cautions EDS patients with significant pain arising from the base of the skull against chiropractic manipulation of the neck, but he notes that other chiropractic techniques, such as manual traction, passive stretching, massage, and ischemic compression of trigger points can be helpful.

Other familiar EDS issues such as POTS and IBS are well covered in a section called “Other Body Systems,” which even contains a chapter on speech and swallowing contributed by Angela Hunter and Bonnie Heintskill. Another section,

called “Associated Conditions,” brings the reader up to date on sleep issues, fibromyalgia, depression and anxiety, and so on. New to this edition is a long section called “How to Cope, which contains most of the material that has been contributed by others, and ranges widely, from service dogs, to school and workplace adaptations, to stress and anger. The chapter on parenting by Candace Ireton is especially thorough and perceptive, and fills a great need.

It is evident throughout his book that Dr. Tinkle is particularly sensitive to the needs of his young patients. He understands that children and adolescents want to be active, and reassures parents that it can be possible for hypermobile children to participate safely in sports if they are carefully managed. One of the strongest

chapters in the book is Sports and Activities Participation, in which he discusses the special vulnerabilities hypermobility confers on the young athlete, and then discusses how they can be minimized joint by joint and sport by sport. As Dr. Tinkle explains on

page 95, “Since I strongly desire those with hypermobility to stay active, it is a challenge sometimes to find activities that the person would be willing to do. Therefore, if a person is willing to do an activity, I find it more useful to continue the activity with restrictions if necessary and conditions on continuing the activity. Often the ‘conditions’ surround being honest about what hurts and what got injured.” Such “common” sense (which is actually quite rare, of course!) runs throughout this useful and compassionate guide.

Amy BiancoEditor, Medical Section

“It is evident throughout his book that Dr. Tinkle is particularly sensitive

to the needs of his young patients.”

(continued from page 18)

SPRING 2011PAGE 20

The Magazine About Living With EDSPUBLISHED BY

FOUNDERNancy Hanna Rogowski1957–1995

Executive DirectorLesa Faris

Board of DirectorsElliot H. Clark, ChairRichard Goldenhersh, Vice ChairJanine Sable, SecretaryLinda Neumann-Potash, RN, MNRichie TaffettBrad Tinkle, MD, PhD

Professional Advisory NetworkPatrick Agnew, DPMPeter Byers, MDEdith Cheng, MDJoseph Coselli, MD, FACCJoseph Ernest III, MDClair Francomano, MDTamison Jewett, MDMark Lavallee, MDHoward Levy, MD, PhDNazli McDonnell, MD, PhDDianna Milewicz, MD, PhDAnna Mitchell, MD, PhDRaman Mitra, MD, PhDLinda Neumann-Potash, RN, MNTerry Olson, PTMary F. Otterson, MD, MSMelanie Pepin, MS, CSGElizabeth Russell, MDUlrike Schwarze, MDKaren Sparrow, PhDBrad Tinkle, MD, PhDMike Yergler, MD

GUIDELINES FOR SUBMISSIONSTO LOOSE CONNECTIONS

1. For text documents, use Arial, Helvetica or Times of

at least 10 points (preferably 12 to 16) in size, so our

editors can easily read your document and prepare it

for publication. Attach the text document in either

Word (.doc) or Rich Text Format (.rtf) to an email

sent to editor@ednf.org that also tells us how to

reach you for more information.

2. For photographs, attach them to an email to edi-

tor@ednf.org; send three to five images that are at

least 2400 x 3000 pixels (300 dpi resolution & 8 x

10 inches) and without compression beyond that

performed by the camera when it was taken. In the

email, please identify the event or cause for the pho-

tographs, including any relevant identification (per-

sons involved, date, photographer’s name if needed)

and how to reach you for more information.

3. Text articles, photographs, or any other submissions

to Loose Connections are accepted only on condition

that publication of that material is not under

copyright or other restrictions on its publication.

Ehlers-Danlos National Foundation reserves all

and final editorial privileges, including the right to

choose not to print a submitted story; submissions

may be edited at the discretion of the editorial staff.

Copyright 2011 Ehlers-Danlos National Foundation.

The opinions expressed in Loose Connections are those

of the contributors, authors, or advertisers, and do not

necessarily reflect the views of Ehlers-Danlos National

Foundation, Inc., the editorial staff, Professional

Advisory Network, or the Board of Directors. EDNF does

not endorse any products.

To contact EDNF, email ednfstaff@ednf.org; write to

Ehlers-Danlos National Foundation, 1760 Old Meadow

Road, Suite 500, McLean, Virginia 22102; or call us at

(703) 506-2892.

L O O S E CONNECTIONS

SPRING 2011PAGE 21

JULY OCTOBERAUGUST NOVEMBERSEPTEMBER DECEMBER

JANUARY APRILFEBRUARY MAYMARCH JUNE

2011 PUBLICATIONS SCHEDULE

Hinge PAN Hinge

Hinge LooseConnections

Hinge LooseConnections

Hinge PAN Hinge

Hinge ConferenceHinge

Hinge LooseConnections

Communications Director/Editor-in-ChiefBarbara Goldenhersh, PhD

Design Director/Graphics & TypeMark C. Martino

Editor, Medical SectionAmy Bianco

Front Cover: Spring in the AdirondacksWinding forest road through lush green forest Copyright 2011 Zack Clothier

Page HeadersCopyright 2005 Mayang Adnin

BelowCopyright 2010 playfulpup