The Adult PKU Program
of the NPKUA
Justin Young, DDS, MD
Sarah Foster, MPS
Founding Co-Chairs
Justin Young
Nothing to disclose
Sarah Foster
Employee of Applied Nutrition, manufacturers of
medical food for PKU and other inborn errors of
metabolism
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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
• 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.
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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
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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
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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)
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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
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Clinical outreach
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Maternal PKU
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Social Support
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Coverage Issues
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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
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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
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Preconception education
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Information regarding Kuvan and pregnancy
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Return to diet toolkit
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Web site targeted to PKU adults
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Educating parents for transition from kids
to adults
Conference – add a social non-PKU event
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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
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.
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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
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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)
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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
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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
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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
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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
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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
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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
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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
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Address lack of resources for women who are
currently pregnant
 Maternal PKU Emergency Assistance Program
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Preconception education
 To be included in the website and Mentor Training
Program
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Information regarding Kuvan and pregnancy
 To be included in the website and Mentor Program
Training
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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
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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 Syndrome
Knerr et al. BMC Pediatrics 2005 5:5 doi:10.1186/1471-2431-5-5
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Return to diet toolkit
 Booklet completed and is in distribution
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Web site for adults with PKU by adults with PKU
 Fundraising in progress, website project being lead by Les Clark
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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
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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 ConnellySheppard, 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!
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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_a
dult_booklet.pdf
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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
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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
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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
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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!
Comments? Questions?
Suggestions?
Volunteer, please! Thank you!
Justin Young
juicer299@yahoo.com
Sarah Foster
pkuadult@aol.com