Advancing Treatment of PKU & Transition to Adulthood
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Transcript of Advancing Treatment of PKU & Transition to Adulthood
Jerry Vockley M.D. Ph.D.Chief of Medical GeneticsChildren’s Hospital of Pittsburg
Heather Ricca- PKU Adult
Advancing Treatment of PKU & Transition to
Adulthood
Phe Level and IQ
Observation Period Blood Phe Range(µmol/L)
Lifetime IQ Loss for Each 100 µmol/L
Increase in Blood Phe
0-12 years 423–750 1.3–3.1
Lifetime 394–666 1.9–4.1
Wiaisbren,et al, MGM, 92:63 (2007)
Continued Diet = Better Outcome
OutcomeDiscontinued
DietContinued
Diet
Medical Problems 2.4 ± 1.8 0.9 ± 1.4
College Degree 32% 78%
Socioeconomic Class I or II*
19% 44%
Koch et al 2002
*Two highest socioeconomic classes in the Hollingshed classification system
Gassio et al 2005 Koch et al 1984
Risks in PKU
Blood Phe and IQ are correlated Variability in Blood Phe is important
P < 0.001
P < 0.001
Based on Behavior Rating Inventory of Executive Function (BRIEF) GEC score
Executive Function Deficits
Anderson et al 2002
8
2
3
4
5
6
7
5 6 7 8 9 10 11 12 13 14 15 16 17 18
Age (years)
Su
mm
ary
Mem
ory
Sco
re Control
PKU
White et al 2001
Deficits May Worsen with Time
Araujo et al 2009 Diamond et al 1997 Van Zutphen et al 2007 Channon et al 2004 Huijbregts et al 2002 White et al 2001, 2002
Dietary Compliance
Walter et al, Lancet, 360:55 (2002)
Per
cent
on
Die
t
Age
My name is Heather Ricca. I am 27 years old with classical PKU. Originally from Farmington Hills, MI Now living in Plainfield, IL 5th Grade Teacher Member of PKU Organization of IL where my husband David is the President this year.
Topics for today: First steps in beginning to transition
Strategies to help manage PKU independently
Tools to help your daily PKU Routine
Introduction
Having had little control of my PKU in high school, my parents came to the decision that before college, I needed to take on more responsibility, in order to be independent. There were warning signs for them in knowing I needed help!
(I had migraines, mood swings, huge test anxiety, and frequent stress).
My parents took the first steps in lovingly helping me gain independence!
My Transition Experience:
Ultimately, it was meeting David (my husband) in college that truly motivated me to be independent as we made plans for the future!
My parent’s strategies: One step at a time- first taking my
own blood, then meal planning with my mom, shopping with them, ordering my own formula
Encouragement and Accountability- bringing me PKU food while visiting me, helping me plan once a month to do a phe level
Recognizing the Difference- My parents made sure they talked to me about the positive differences they saw in me as I began to take hold of my PKU. They encouraged me by pointing out my attitude and demeanor, being less stressed and being more organized. This gave me huge confidence!
Transitioning- Part 2
Teen Transition
You are here!
Identify a Transition Leader
Written Plans
Start Early Before it is even
viewed as an issue by the child
< Age 12 Be flexible
Clinic Visits See child
independently first Follow by joint
meeting with parents
Transitioning to a New Team
Transfer care records
Opportunity to meet the new care providers
Education Programs
A Clean Break
Teen Transition Program Based on Christine Trahms Teen Program Teaching Modules (4 year curriculum)
◦ 1. The process of transition◦ 2. Eating for your brain ◦ 3. Making decisions and solving problems ◦ 4. Genetics and reproduction ◦ 5. Neuropsychological testing ◦ 6. Taking charge of your medical care◦ 7-8. Finalizing Transition
Additional Pieces
Multiple contact modalities◦Social media◦Face to face (clinic visits)◦Phone
Incorporate Phe meter use
A Different View for the Future
Many Paths!
You are here!
Reaching a Goal
Once you make the choice to take control of your diet and management, it is important to realize that full control will not be a quick or an overnight process.
-Start with one goal/one step (see what kind of levels you are working with) ◦ Blood Levels◦ Taking control of food◦ Finding someone to keep you accountable
Establish a good formula regimen:◦ Try all the options and see what works for you.◦ Try to drink formula several times per day to fill you more. ◦ See if you can add some variety in your daily formula ◦ My Day: Bettermilk- Breakfast, Latte with Phen. Ade 40 – Lunch and Camino Pro-
dinner
First Steps…
Getting a Routine= Planning Ahead Pre-measure food, snacks, and formula- take about 20
minutes at the beginning of the week to put food aside in bags and containers, etc.
Make a meal plan for the week Plan a grocery list that corresponds with your meal plan
(saves money too)
Establishing a Routine
High School, College, Living on Your Own◦ Start to Plan Ahead- Planning ahead is your best way
to manage your diet. It keeps you organized and allows you to stick to low protein meals.
◦ Advocate for Yourself- If I could have done one thing differently, I would have brought low protein food to college with me! Schools, restaurants, and public places are very willing to meet medical needs!
◦ Make PKU Management a positive mindset- it will keep you healthy and with the right amount of work, PKU will not limit what you can do on a day to day basis!
Strategies for Independence
It is very important to comply with diet and PKU management
Your quality of life and daily functioning are greatly improved by managing your PKU on a daily basis
Independence can be achieved with time, preparation, and support from others
Start with small goals and know that it will not happen over night…ONE step at a time!
Questions? Both of us would be happy to talk with you and help answer your questions or give support!
Summing it Up…
Thank You!