Advancing Treatment of PKU Transition to Adulthood Jerry

Advancing Treatment of PKU & Transition to Adulthood Jerry Vockley M. D. Ph. D. Chief of Medical Genetics Children’s Hospital of Pittsburg Heather Ricca- PKU Adult

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 Discontinued Diet Continued Diet 2. 4 ± 1. 8 0. 9 ± 1. 4 College Degree 32% 78% Socioeconomic Class I or II* 19% 44% Outcome Medical Problems *Two highest socioeconomic classes in the Hollingshed classification system Koch et al 2002

Risks in PKU Gassio et al 2005 Koch et al 1984 Blood Phe and IQ are correlated � Variability in Blood Phe is important �

Executive Function Deficits P < 0. 001 Based on Behavior Rating Inventory of Executive Function (BRIEF) GEC score Anderson et al 2002

Deficits May Worsen with Time 8 Control PKU Summary Memory Score 7 6 5 4 3 White et al 2001 2 5 6 7 8 9 10 11 12 13 14 15 16 17 18 Age (years) Araujo et al 2009 Channon et al 2004 Diamond et al 1997 Huijbregts et al 2002 Van Zutphen et al 2007 White et al 2001, 2002

Percent on Dietary Compliance Age Walter et al, Lancet, 360: 55 (2002)

Introduction My name is Heather Ricca. I am 27 years old with classical PKU. � Originally from Farmington Hills, MI � Now living in Plainfield, IL � 5 th 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

My Transition Experience: 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 warning signs for them in knowing I needed help! � (I had migraines, mood swings, huge test anxiety, and frequent stress). Ultimately, it was meeting David � My parents took the first steps in lovingly helping me (my husband) in college that truly gain independence! motivated me to be independent � as we made plans for the future!

Transitioning- Part 2 � 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 Accountabilitybringing 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!

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

First Steps… � � � 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 Prodinner

Establishing a Routine � 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)

Strategies for Independence � 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 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!

Summing it Up… � 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!

Thank You!