PKU Adult Program: Support & Resources for Adult PKU Community

1. The Adult PKU Program of the NPKUA Justin Young, DDS, MD Sarah Foster, MPS Founding Co-Chairs

2. Speaker Conflict of Interest Statement Justin Young Nothing to disclose Sarah Foster Employee of Applied Nutrition, manufacturers of medical food for PKU and other inborn errors of metabolism

3. NPKUA Adult Program History • Original NPKUA Standing Committees: Membership, Fundraising, Advocacy, Research • Adult PKU Committee added based on the NPKUA strategic planning process and a proposal from Justin Young and Sarah Foster. • Proposal included the provision for a summit similar to those conducted in the formation of the NPKUA. Proposal approved by the NPKUA board May 2010 • For your information, currently, 6 of the 22 NPKUA Board Members are PKU Adults: Virginia Harrison, MACPAD Kenneth Allen, WyoMed Campaign Organization Heather Ricca, PKU Organization of Illinois  Ashley Sullivan, NECPAD Justin Young, Member at Large Sarah Foster, Applied Nutrition

4. Adult PKU SummitOctober 8-10, 2010New Orleans, LA

5. Adult Summit Participants • PKU adults representative of diverse geographic regions, age, gender, diet history and experiences: Justin Young, Sarah Foster, Annaliese Martinec, Sarah Peek, Hunter Rametta, Julie Kelly, Kerry Lewendoski, Calvin Claxton, Christopher Howell, Stacey Harrell, Joseph Belangia • Clinicians:Amy Cunningham, RD, Angela Kurtz, RD, Greg Rice, MD, Adam Rosenblatt, MD • Dianne Sullivan, parent of two adult PKU children • Companies: Applied Nutrition, Cambrooke Foods, Nutricia, Vitaflo, BioMarin • 2 NPKUA Staff • This summit was supported by an unrestricted educational grant from BioMarin along with additional support of low protein foods from Cambrooke Foods and Nutricia.

6. Adult Summit Goals • Describe the current landscape of adult PKU • Identify areas of need and gaps in services to the adult PKU community through a brain storming process • Prioritize needs through a ranking process • Small breakout work groups set objectives and goals which address the areas identified

7. Current Landscape: Negatives • Treated like a child largely at Children’s Hospitals by pediatricians • Clinical team has little time to devote to adults with PKU, especially those needing education and support returning to diet • Lack of knowledge regarding adult PKU, especially as it relates to the aging process • Historical dietary management practices has left many with less than optimal outcomes

8. Current Landscape: Negatives • State and Federal laws mandating coverage or providing assistance often exclude PKU Adults, especially males • Formula, food, and other treatment options are extremely expensive and many, even those with insurance, can’t afford to be on diet • Majority of support group activities are geared largely toward children • Eternal guinea pigs (Also seen as a positive) • Always a role model (Also seen as a positive)

9. Current Landscape: Positives • Newborn screening has saved our lives and we have benefited from those who have come before us who were not diagnosed • Vastly improved management options • Internet allows for social interaction with other adults, no longer alone • Direct access to health care professional and researchers • Though there is a long way to go, people are starting to listen to us and care what we think

10. Identified Areas of Need • Clinical outreach • Maternal PKU • Social Support • Coverage Issues

11. Clinical Outreach Goals • Participate in the formulation and formation of standards of care • Assist clinics with adult PKU outreach and establishing clinics / clinic programs for adult PKU • Portion of the website to assist with identification of symptoms, electronic records, and whole health issues • Psychology of getting back of treatment

12. Maternal PKU Goals • Recreate Mother’s Resource Program with significant modifications using women who have been through pregnancy as mentors • Address lack of resources for women who are currently pregnant • Preconception education • Information regarding Kuvan and pregnancy

13. Social Support Goals • Return to diet toolkit • Web site targeted to PKU adults • Educating parents for transition from kids to adults • Conference – add a social non-PKU event

14. Coverage Goals • Participate in advocating for the Medical Food Equity Act • Website to include resources such information on navigating insurance issues as well as a script for talking with insurance companies • Website information regarding companies with patient assistance programs

15. The PKU Adult Program is an initiative that provides information and support for adults living with PKU. Adults with PKU face many challenges. The program provides a one-stop resource for adults seeking to improve their quality of life. This is the only program composed of a national network of adults with PKU, their families, clinicians, and industry leaders to address the variety of needs of adults with PKU. Mission Statement

17. THANK YOU! • Estate of Katherine and Arthur Higgins donated $25,000 for initial operating funds for the Adult PKU Program • Parents of David and Cathy, first people known to be diagnosed with PKU in the state of California • Video of David and Cathy, PK-Who used to help lobby congress for passage of the Medical Food Equity Act

18. Goals Update

19. Clinical Outreach Goals • Participate in the formulation and formation of standards of care • Justin Young only adult with PKU who actively participated in a work group for the NIH Scientific Review Conference held Feb 2012 • Assist clinics with adult PKU outreach and establishing clinics for adult PKU • Administer $50,000 grant for adult outreach (on going) • Authored article for National PKU News supporting Dr. Barbara Burton’s journal article concerning adults lost to follow-up (Young and Foster)

20. Clinical Outreach Goals • Portion of the website to assist with identification of symptoms, electronic records, whole health issues • Currently fundraising for website • Due HIPPA and privacy issues, as well as cost, electronic records and electronic follow-up portion of the website may not be possible • Clinical reference guide meant for any practitioner who may be exposed to/see adult patients with PKU, but who does not perform metabolic patient care on a regular basis • Outline complete, waiting on guidelines

21. Adult Outreach Grant • Purpose of grant program to assist metabolic clinics with locating adult patients lost to follow-up and bring them back to clinical care and improve services for adults with PKU • $50,000 unrestricted grant from BioMarin • Average grant size: $5-10k • Potential projects: mailing to patients lost of follow-up, holding an event, supporting a part-time person to locate lost patients, or hosting an evening adult only clinic. • Grants awarded based on merit. Merit determined based on an eight point matrix developed by Justin Young • Grant applications reviewed by Heather Ricca, Justin Young, Sarah Foster, and Christine Brown

22. Awarded Grant: Adult PKU Survey • Principle Investigator: Sandy VanCalcar, RD, Waisman Center, Madison, WI • Questionnaire to describe views of adults with PKU who are both on and off diet. • Focus on their current diet status, follow-up needs and health issues related to their diagnosis • Findings will be disseminated to metabolic practitioners to increase knowledge about the needs of adults with PKU and improve services for this underserved population • All adults with PKU in the US are invited to participate, survey available @ https://www.surveymonkey.com/s/NPKUA

23. Awarded Grant: Mailing to California PKU adults • Principle Investigator: Kathryn Moseley, RD, LAC+USC Genetics Clinic • Brochure aimed at keeping patients in the system and connected to clinics as well as the PKU community • Brochure informed the patient of importance of regular clinic visits, importance of maintaining the diet for life, new happenings surrounding PKU, specifically new products available • The rewards and importance of becoming active in the PKU community • Resources available to patients with PKU, such as the location of all metabolic clinics in California and contact information for the California Coalition for PKU and Allied Diseases (CCPKUAD), other California resources and the NPKUA

24. Awarded Grant: Adult Boot Camp and Grant Rounds Presentations • Principle Investigator: Darius Adams, MD, Albany Medical Center, Albany, NY • Adult Boot Camp August 8-10, 2012 for 12 participants • Topics include: medical foods, dining out, effects of PKU on the brain, cooking • Educational Outreach to medical professionals: Grand rounds presentations at four regional hospitals. Hospitals selected based on frequency of adults with PKU living in their catchment area

25. Awarded Grant: Outreach to Adults Lost to Follow-up • Principle Investigator: Susan Waisbren, PhD, Children’s Hospital Boston, Boston, MA • Identify, locate and contact lost-to-follow-up patients • Establish a model for other clinics to use in tracking and reaching out to adults with PKU with whom they have lost contact • Conduct an adult PKU Clinic • Offer home visits for individuals who have difficulties returning to clinic • Design a Seminar for Adults with PKU

26. Maternal PKU Goals • Recreate Mother’s Resource Program with significant modifications using women who have been through pregnancy as mentors • Training to take place October 5-8, 2012 • Address lack of resources for women who are currently pregnant • Maternal PKU Emergency Assistance Program • Preconception education • To be included in the website and Mentor Training Program • Information regarding Kuvan and pregnancy • To be included in the website and Mentor Program Training

27. Maternal PKU Mentor Program • Inspired by the Resource Mother’s Program from Children’s Hospital Boston • Program lead by Kea Crivelly, Tulane University, New Orleans, LA and Kerry Lewendoski, MPKU to 3 healthy children • Last session this afternoon will discuss this program in-depth

28. Maternal PKU: Emergency Assistance • Program and its concept proposed by Justin Young • Quickly lower high levels in an unplanned pregnancy or prevent high levels due to lack of access to low protein foods • Formula covered by state/federal programs and formula companies assist with emergency supplies but low protein foods generally not covered • Accessed only by application from metabolic clinic • Provides staple products that are generally accepted and are easy to use / prepare • $5,000 operating funds ($2,500 from the Adult PKU Program and $2,500 from the NPKUA general fund) • To date, 7women (and their fetuses) have been helped Maternal PKU Syndrome Knerr et al.BMC Pediatrics 2005 5:5 doi:10.1186/1471-2431-5-5

29. Social Support Goals • Return to diet toolkit • Booklet completed and is in distribution • Web site for adults with PKU by adults with PKU • Fundraising in progress, website project being lead by Les Clark • Assist with educating parents about the issue of transition from childhood to adulthood • Optional breakout session being held at this conference, lead by Heather Ricca and Jerry Vockley, MD, PhD • Conference – add a social non-PKU event • Dinner held last night for approximately 50 PKU Adults / their guests. Special big thanks to Kerry Lewendoski, Debbie Connelly-Sheppard, David and Laine Woodhead, Christine Brown, and Nicole Polkowski for planning and organization of this event. Also, thanks to BioMarin for donating the chefs and to the chefs for donating their time. Thanks, chefs!

30. Returning to Diet Toolkit • Project lead by Annaliese Martinec • Surveyed numerous adults with PKU for their input and suggestions • 12 page booklet • Symptoms of not being on diet • 3 steps to better management • Words of encouragement • Copies via metabolic clinics, at events and from NPKUA member organizations • Available online at: http://www.npkua.org/images/PKU_adult_booklet.pdf

31. PKU Adult Website • Project lead by Les Clark • Fundraising efforts currently underway • Serve as virtual home of the Adult PKU Program • Comprehensive, unique site • Goals: • Provide outreach, education, information, and support for all adults with PKU, their family members and health care professional managing adults with PKU through a portal that provides a centralized source of accurate and consistent information • Facilitate ownership of treatment management through mechanisms for monitoring health status and tools to assist with making dietary compliance more manageable • Allow for connection and interaction

32. Adult PKU Dinner Thanks, chefs! Extra special thanks to David and Laine Woodhead for allowing us to overtake their lovely home!

33. Coverage Goals • Participate in advocating for the Medical Food Equity Act • Anna Parker, Julie Kelly, Sarah Foster (twice) participated NPKUA’s lobby efforts on Capitol Hill and countless others wrote, called, and otherwise lobbied for the MFEA • Co-Authoring white paper for the 50th Anniversary of Newborn Screening concerning the adults and access issues (Christine Brown) • Website to include resources such information on navigating insurance issues as well as a script for talking with insurance companies • Currently raising funds for website • Website information regarding companies with patient assistance programs • Currently raising funds for website

34. Adult Program Fundraising • Funds will be used to establish and support the MPKU Mentor Program and the Adult PKU Website • Goal $100,000 • Adult PKU Program committed $10,000 • Corporate donations: • $68,000 • PKU community donations: • As of July 20th, 50 donations totaling $4,430 with an average gift of $88.60 Please, donate if you are able. Thank you!

35. Open Discussion Comments? Questions? Suggestions? Volunteer, please! Thank you! Justin Young juicer299@yahoo.com Sarah Foster pkuadult@aol.com