Saturday, July 12 (continued)
Medical Food Coverage and Advocacy
Amy Oliver, JD and Kristen Vanags
Learn how you can become an advocate for yourself, your child, or other family member with PKU. Discuss coverage of medical foods by insurance companies under the Affordable Care Act, and how current state mandates play a role. Talk about how medical foods are covered by state and federal programs, such as Medicare, Medicaid, CHIP, and Tricare. Learn more about the NPKUA’s efforts to improve access to medical foods, including the Medical Foods Equity Act currently pending in Congress.
PKU in the School Years
Ashley Vollenweider, NP, University of Utah, Krista Viau, RD, University of Utah and Jon & Melissa Baker, PKU Parents
Topics discussed in this workshop include PKU and lunchtime, fostering self-management skills, and communicating with school personnel. As children enter school age years, meals away from home become more frequent. We would like to help you and your child, prepare for these changes by discussing how to plan ahead for meals and snacks, how to teach your child to choose appropriate foods away from home, and incorporate formula at school. We will also discuss age appropriate development of self-management skills. Finally,we will review how to effectively communicate your child’s dietary and other medical needs with school personnel.
Insurance Coverage Workshop
Raenette Franco, Certified Billing Specialists, Compassion Works
Compassion Works Medical has a special mission to change the lives of the rare genetic disease community by supporting a genuine helping hand with insurance coverage and patient advocacy counseling. Over the past years working at Applied Nutrition and now Compassion Works Medical, Raenette has built strong relationships with dietitians and families across the board to help those people find a way to afford and stay on diet. We don't take NO for an answer. Compassion Works has partnered with the NPKUA to develop an Insurance Coaches Program to assist adults and families with insurance issues.
Creating PKU Awareness and Events in Your Community
Heather Bomar, Bonnie Brady, Sherry Markwell, Ginny Michaux and Jeb Haber
This panel will provide helpful tools and experiences in planning local events to raise money and awareness for PKU. Be prepared to be inspired by the ease of planning this type of event in your town or with your local organization. There will be easy steps to follow on how to execute a walk. The panel will also discuss a new communications and branding initiative by the NPKUA to raise funds in off conference years based on the incredible success of Tuxes for Tia, a local gala in Washington, DC that raised $1.1 million for PKU.
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Maternal PKU - Challenges in Doing What We Know is Important
Anne Cunningham, MS, RD, LDN, Tulane University of Medicine
There is convincing science to confirm what we all know – low blood phe during pregnancy is essential for the birth of a healthy baby. But still many
children are born with the serious consequences caused by exposure to high maternal blood phe during pregnancy. Unexpected pregnancies in women who are “off diet” contribute to this, and so does the difficulty of returning to a treatment that lowers blood phe enough to prevent damage to the baby. During this session we will talk about the importance of good blood phe during pregnancy, and how to meet the challenges faced in achieving that.
How to Make the New PKU Guidelines Work for You
David Dimmock, MD, Children's Hospital of Wisconsin and Kathleen Huntington, RD, LD, Oregon Health and Sciences University
This breakout session will follow-up on the general session on the new medical and dietary guidelines recently released for the treatment of PKU. This breakout will go into more detail on the recommendations and discuss ways to use the guidelines to get the most out of your clinic visits.
Cooking for the PKU Diet
Sara Tye, Kevin Brown and Lynn Paolella
Cooking for the PKU Diet does not have to be complicated! This session will discuss ideas for simple and quick mid-week meals, “standby convenience” meals that help make meals less stressful and recipes that work for the entire family. The session will also discuss how applying proper cooking techniques can elevate all low protein foods in appearance and how to involve your children in the kitchen. Create food that looks good, tastes good and smells good.
Sunday, July 13
Liver Cell Transplantation
Kristen Skvorak, PhD, University of Pittsburgh
Rather than transplant whole liver (expensive, invasive, organ shortage, lifelong immunosuppression), healthy cells could instead be infused into a patient’s diseased liver providing the missing enzyme to improve symptoms. Initial studies with liver cells transplanted into a MSUD and PKU mouse model were very promising, and so investigation with human placental stem cells (plentiful, low immune response by patient so may not require immunosuppression) began. Placental cell transplant in MSUD and PKU mice decreased amino acid toxicity in blood and brain and restored balance, and improved neurotransmitter levels. Our major project goal is to bring this therapy to reality clinically.
Genetically Engineered Probiotics For the Treatment of PKU
Katherine Deming, PhD, Candidate, Department of Biological Sciences, University of North Texas, Denton, TX
The goals in creating the genetically engineered probiotic organism as a treatment for PKU are to 1) use a genetically engineered probiotic bacteria, to catabolize (break down) phe (phenylalanine) in-vitro and 2) use the novel probiotic in the PAHenu2 mouse model in order to determine the efficacy of this new construct in-vivo. Ideally, by reducing the amount of phe that can enter the blood from food, the toxic build up of phe in the blood will be reduced. This may lead to a treatment that allows for a more “normal” diet in PKU patients while keeping phe levels low.
Effect of PKU on the Gut Microbiome and Implications for Probiotic Therapy
Michael S. Allen, PhD, Associate Professor, UNT Health Science Center, Department of Forensic and Investigative Genetics, Fort Worth, TX
Humans harbor a complex assemblage of microorganisms within their intestines referred to as the “microbiome”. Our research into the gut
microbiome of a mouse-model of PKU fed a standard diet revealed the presence of a group of bacteria not found in wild-type mice. We hypothesize that these bacteria are specifically using phenylalanine and its metabolites from the host. If so, these bacteria might exert a protective effect by degrading phenylalanine in the intestine and buffering its concentration in the blood. Application of such bacteria as probiotics could protect against excess phenylalanine in the diet, and possibly enable easing of dietary restrictions. Our research aims to test this hypothesis, as well as identify similar bacteria in the human gut with probiotic potential.