research | education | support | advocacy 20 15 Annual Report

A Message from the Incoming Board President So much has changed and the National PKU Alliance is driving that change. It seems like just yesterday our research. It is quite amazing to daughter was diagnosed with see how far we’ve come in such a PKU, but it has been nearly nine short time. years since that fateful phone call. As I transition to the role of As any parent who has received President of the National PKU that phone call knows, it forever Alliance, I am excited about the changed our lives. When we first possibilities. While we still don’t Save The Date! learned our daughter had PKU, know exactly what the future we didn’t know what the future holds for our daughter and our 2016 NPKUA Conference held, but one statement from our youngest son, who also has PKU, July 28-31, 2016 medical team stood out – there is we know that there are talented Indianapolis, Indiana no cure for PKU. and dedicated individuals Today, so much has changed and working to improve the lives of Lifting the Limits for PKU the National PKU Alliance is those with PKU and find a cure. Boston, MA – May 14, 2016 driving that change. It’s because With your continued support, we Seattle, WA – October 8, 2016 of the support of our family, can change the future of PKU. friends, neighbors, colleagues, Find more information and others that there are new on these events at npkua.org treatments, new educational and support resources, a national Amy J. Oliver, organization, and promising new 2016 Board President

Like us on Facebook | Find us on Twitter | www.npkua.org | www.adultswithpku.org 2015 NPKUA Amplifying Research Awards the Voice of PKU

Katherine Durrer-Deming, MS, In the last decade, mounting evidence has shown that the current dietary treatment at the University of North Texas with for PKU is challenging and that many in our community have difficulty maintaining Dr. Michael Allen will continue their their blood Phe levels within the recommended range. As a result, the NPKUA work in developing a genetically conducted its first national survey of the PKU community in 2015 to assess their current health status and desire for new treatments for PKU. engineered probiotic to treat PKU. The results of this survey Dr. Paulo Roque Lino, were astounding: at the Research Institute for Medicines, • 91% of respondents said Faculty of Pharmacy, University of that the development of Lisbon, Portugal is focusing on the new therapies and development of an Enzyme Reposition treatments for PKU was Therapy approach to PKU. important to them.

Dr. Robert Nicholls, • 52% of those surveyed Professor of Pediatrics in the Division of report difficulty Medical Genetics at Children’s Hospital managing their PKU, of Pittsburgh of UPMC is developing a even though 86% of new clinically relevant swine animal them have visited a clinic model for PKU in order to study and that specializes in PKU understand biomedical bases and to care within the past year. develop therapies. • 25% of children and 62% of adults reported blood Dr. Eddy van der Zee, Phe levels above the medically at the University of Groningen and at the recommended range. University Medical Center of Groningen in The Netherlands is studying the We can and must do better. The NPKUA is using the results of this survey to effects of large neutral amino acids on amplify the voice of PKU patients to the medical community, our federal Phe levels and neurotransmitters in the stakeholders and to industry, to ensure that our voice and experience is heard brains of PKU mice. in the development of new therapies for PKU and why a cure is needed.

Dr. Roberto Gramignoli, Assistant Professor at Department of Laboratory Medicine at the Karolinksa Institute, is pursuing the use of human amnion epithelial (hAE) cells "The current standard of treatment for PKU is transplantation for curing PKU and challenging for many families and gets harder and several additional liver-based more difficult as patients age. metabolic diseases. As a medical community we need to do better for Dr. Kristen Skvorak, at the University of Pittsburgh these patients.” Medical Center, is studying the ~ Dr. Cary Harding, transplantation of human amnion NPKUA Scientific Advisory Board Chair epithelial (hAE) stem cells in the PKU mouse model. Nashville Hosts First Lifting the Limits for PKU Gala

Our first gala for Lifting the Limits for PKU held in Nashville on September 26th was a huge success. With 475 people assembled for a dinner, silent and live auctions and entertainment by the star of the TV hit series “Nashville,” Charles Esten, over $400,000 was raised to develop and grow the NPKUA Fund in order to accelerate the development of new treatments and an eventual cure. Co-chairs Heather Bomar and Katie Turner, along with key auction and host committee members, truly dedicated numerous hours and commitment to the event to bring together family, friends and generous sponsors to raise money for PKU research and help achieve the goals of the NPKUA Fund. Heather Bomar with daughter, Ellis, and Katie Turner with son, Crosby, meet Charles Esten, featured artist during Lifting the Limits for PKU – Nashville. Thank you to our volunteers, sponsors and donors for investing in the next generation of therapies and a cure!

PKU Voices are Being Heard

In May, a group of more than 30 volunteers came to Washington, DC from all over the U.S. to lobby on behalf of the PKU community. Volunteers from 15 states joined together with NPKUA staff and Board to move the Medical Foods Equity Act forward. We had more than 75 meetings on Capitol Hill!

As a result of these meetings, we have commitments from several representatives to join as co-sponsors once the bill is re-introduced. As we continue our efforts with the bill, we need to involve more people in our advocacy efforts and get everyone in the PKU community actively engaged. We heard from numerous offices that personal visits really make a difference.

Thank you for bringing the PKU voice on the importance of medical foods coverage to elected officials. Maternal PKU Mentor Program Success

The Maternal PKU Mentor Program launched in 2015 to provide support to women with PKU who are pregnant or considering becoming pregnant. This unique program establishes a mentor-mentee relationship between two women with PKU; one being pregnant or planning to become pregnant and the other having already experienced a successful pregnancy. The program currently has four mentors and 11 mentees. To date, the Maternal PKU Mentor Program has had two successful pregnancies (six current pregnancies, and five in the process of conceiving). It is part of the National PKU Alliance Adult Program and can be found at www.adultswithpku.org.

“The best feeling in the world is helping someone simply by sharing your experience. Pregnancy is scary enough, and when PKU is added in, it can be daunting and overwhelming. Giving women more knowledge and comfort of knowing they're not alone helps empower them to advocate for themselves.” ~Kerry, Mentor P.O. Box 501 Tomahawk, WI 54487

Please join us for the largest conference in the world for PKU families and adults. The conference promises stimulating general sessions on the latest PKU research, practical breakout sessions for parents, teens and adults, and plenty of networking opportunities Taking the Lead for and fun. This is a perfect opportunity to meet leading researchers, industry innovators and families and adults just like you. Members can register for early bird pricing by April 30, 2016 NPKUA Conference July 28-31, 2016 • Indianapolis, IN 2016. www.npkua.org/NewsEvents/2016Conference

National PKU Alliance Board of Danae’ Bartke Cait Kerr* Staff Directors Olaf Bodamer, MD, PhD Kate Kimbley Christine S. Brown Heather Bomar Rob Maruster Amy Oliver, JD Executive Director 2016 President Mary Brown* Kelly McDonald* Michelle Pernsteiner 2015 Vice President Nicole Dreyer-Ga vin Melinda Millard Event & Development Richard Michaux Michael Franklin Melissa Perez* Assistant 2016 Vice President Virginia Harrison Diane Pytel* 2015 President Katrina Swenson Rodney Howell, MD John Pytel Communications & Project Assistant John LaPrad Steve Hunt Ashley Sullivan* Treasurer Neil James Hollon Stevens Rhonda Connolly Helen Johnson Mary Watkin Secretary * not serving in 2016

NPKUA’s audited financials are available by request by contacting Christine Brown at: [email protected] or 715-437-0447.