Getting it right, right from the start.
If you’re reading this, you or your family member probably experienced “the call.” The moment when the hospital let you know that your newborn’s blood levels came back outside of the established range, and that they may have PKU.
The diagnosis can be overwhelming. Thoughts may race through your mind about what and how you’ll feed your baby, what treatments you can consider, and the potential impact PKU might have on your baby’s development.
We’re here to provide information, resources, and connections to help you manage PKU and help give your baby the best life. As you start to navigate life with PKU, here are some links and tips to guide you. Also, know that we are a strong community and we’re all here for each other.
Order a Newborn Kit
Being a new parent of a child with PKU can make you feel like you’re on an island. We’re here to reassure you that you’re not alone. You have a community of like parents, their families and friends, researchers, medical professionals and companies, and all of us at the NPKUA alongside you. Our newborn kit is the first demonstration of that. Request yours today.
Access and share information about PKU
As a new parent of a baby with PKU, you might be overwhelmed by all the information about PKU, you will see that as you start to engage with our community, your wealth of knowledge will build quickly. Here’s some information that will help you, your family, and friends feel more informed.
PKU Guide for New Parents and Nutricia’s Guide for New Parents
Download My PKU Binder or PKU and the Brain
Some things you can do to help you take control:
Put your care team together
Those with PKU have different health needs and may require medical care from a multi-disciplinary team that will likely include a geneticist, dietician, and primary care physician. Click here to find a clinic near you.
Start to build your community
Even without PKU, having a new baby can be a bit overwhelming. The saying, “It takes a village,” is even more relevant for those raising a child with PKU. We offer a number of ways to get in touch with others in the community, including the NPKUA Mentor program, community calls, events, a biennial family conference, and information about regional organizations.
Learn about the PKU diet, now and into the future
There are many resources available about the low-protein diet, with tips and recipes. As you manage life with a newborn or toddler, these videos can give you helpful information.
Toddler Tips
Next Stage Formula
Using a Gram Scale
You can also access a summary of the PKU medical guidelines from the American College of Medical Genetics and Genomics and the full document here.
Add your voice to the NPKUA 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 are also able to use the PKU Patient Registry as a means of tracking their PKU journey over time and learning 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.
Insurance Coverage
When it comes to insurance, it can be very confusing, but we’re here to help and to take the confusion out of it with information, explanations, and resources. Insurance Coverage