The power of our community.
For anyone transitioning from the comfort of living at home, living on their own and having new responsibilities can feel more complicated. For people living with PKU, it can seem even more challenging.
Whether you are meeting your goals, or have been off treatment for years, we’re here to support you where you are today and provide the resources to get you where you need to be tomorrow.
Here are some steps you can take and resources you can access:
Download My PKU Binder
The PKU Binder* is a manual on how to effectively manage PKU day-to-day. Filled with tips and advice, from birth to adulthood, on practical and emotional levels.
*Treatments and guidelines are constantly changing. The PKU Binder and PKU and the Brain do not reflect new treatments and updated guidelines. Visit our treatment section for the latest information. The NPKUA would like to thank BioMarin Pharmaceuticals; Applied Nutrition; Australasian Society for Inborn Errors of Metabolism; and Ann & Robert H. Lurie Children’s Hospital of Chicago for their generosity and expertise in helping to make this project a reality.
Find a clinic
The journey to adulthood can take you in many different directions. If you’ve moved, or just need to reconnect with clinic care, you can find clinic near you here.
Continue to build your community
Connecting with others in the community can be helpful. We offer a number of resources, including the Mentor Program, community calls, events and a bi-annual family conference, and information about regional resources.
Share your voice on the PKU Patient Registry
You have the opportunity to contribute toward PKU research by participating in the PKU Patient Registry. PKU is a rare disease, meaning that there are relatively few people living with this condition. Because of this, little is documented about the long-term medical history and lived experiences of individuals with PKU. This data is critical to improve clinical care and speed the development and availability of new treatments and eventually a cure! The NPKUA developed an electronic database, as part of the NORD I Am Rare Patient Registry, to collect health information to help researchers, clinicians and the NPKUA better understand the patient experience with PKU. Registry participants can also use the PKU Patient Registry to track their PKU journey over time and learn about opportunities to participate in external research studies.
The PKU Patient Registry is your opportunity to contribute toward an improved future for individuals with PKU. To learn more or participate, go to pku.iamrare.org.
Brush up on new recipes and low-protein foods
There are many of resources available for the low-protein diet, with tips and recipes. Cooking and Food
Consider participating in a clinical trial
Clinical trials are an essential step in bringing new treatments and therapies to the PKU community. Many companies and academic institutions have ongoing trials and are seeking participants. To learn more about ongoing trials in PKU, click here. If you are interested in potentially participating in a clinical trial, talk with your doctor to see if a particular trial may be a good fit for you. Clinical Trials
Find support as you return to treatment
If you’ve been off diet or away from clinic and you’d like support to get yourself back on track. Our Support Programs can help. Support Programs
Know your rights
Living with PKU can put a significant financial strain on a family, as they seek the best treatment, adhere to the strict diet, and take time away from work to care for a loved one. To address this, the Social Security Administration (SSA) provides financial assistance to those who qualify in the form of Social Security disabilities. Understanding the application process and eligibility requirements for these benefits can help you successfully file your claim. Assistance information
Get help with insurance
Your health insurance plan may change from year to year depending on where you get your health care coverage. It is important to learn what is and is not covered under your current plan, and how to best understand your insurance coverage. Many food and formula companies even offer resources for insurance coverage. Visit Insurance page to learn more.
Pregnancy and PKU
While there can be risks to becoming pregnant with PKU, women with PKU can have healthy pregnancies and babies. Strict metabolic control prior to conception and during pregnancy significantly improves the outcome of babies born to women with PKU and reduces the chance of the baby developing maternal PKU syndrome. Visit Pregnancy with PKU to learn more and to access support services.
