The Adult PKU Program of the NPKUA

Justin Young, DDS, MDSarah Foster, MPS

Founding Co-Chairs

Speaker Conflict of Interest Statement

Justin Young

Nothing to disclose

Sarah FosterEmployee of Applied Nutrition, manufacturers of medical food for PKU and other inborn errors of

metabolism

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, MACPADKenneth Allen, WyoMed Campaign OrganizationHeather Ricca, PKU Organization of Illinois Ashley Sullivan, NECPADJustin Young, Member at LargeSarah Foster, Applied Nutrition

Adult PKU SummitOctober 8-10, 2010

New Orleans, LA

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.

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

Adult Summit Goals

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

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)

Current Landscape: Negatives

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

Current Landscape: Positives

Clinical outreach

Maternal PKU

Social Support

Coverage Issues

Identified Areas of Need

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

Clinical Outreach 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

Maternal PKU 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

Social Support 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

Coverage Goals

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

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

Goals Update

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)

Clinical Outreach Goals

Portion of the website to assist with identification of symptoms, electronic records, whole health issues

Currently fundraising for websiteDue 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

Clinical Outreach Goals

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

Adult Outreach Grant

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

Awarded Grant: Adult PKU Survey

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

Awarded Grant: Mailing to California PKU adults

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

Awarded Grant: Adult Boot Camp and Grant Rounds Presentations

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

Awarded Grant: Outreach to Adults Lost to Follow-up

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 pregnantMaternal 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

Maternal PKU Goals

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

Maternal PKU Mentor Program

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, 7 women (and their fetuses) have been helped

Maternal PKU: Emergency Assistance

Maternal PKU Syndrome Knerr et al. BMC Pediatrics 2005 5:5 doi:10.1186/1471-2431-5-5

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!

Social Support Goals

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

Returning to Diet Toolkit

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

PKU Adult Website

Adult PKU Dinner

EXTRA SPECIAL THANKS TO DAVID AND LAINE WOODHEAD FOR ALLOWING US TO OVERTAKE

THEIR LOVELY HOME!

THANKS, CHEFS!

Participate in advocating for the Medical Food Equity ActAnna 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

Coverage Goals

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!

Adult Program Fundraising

Open Discussion

Comments? Questions? Suggestions?

Volunteer, please! Thank you!

Justin Young juicer299@yahoo.com

Sarah Fosterpkuadult@aol.com