A next steps guide to a new Prader-Willi syndrome diagnosis in the state of Arizona

by PWSAA (Prader-Willi Syndrome Arizona Association)

What to do next:

1. Connect with our national organizations.

   PWSA (Prader-Willi syndrome Association) & FPWR (Foundation of Prader-Willi Research) are both excellent resources. PWSA (our parent organization), in particular, specializes in family support and advocacy with 30+ years experience and has a full-time team of experts to support you and consult with doctors if needed. They also offer incredible new diagnosis packets with all the information you need for the beginning years. Be sure to reach out to them both as soon as possible at pwsausa.org and fpwr.org.

2. Apply for state benefits.

   Your child (age 0-3) should be eligible for AzEIP (Arizona Early Intervention Program). A social worker within the NICU should assist you with this process before discharge. If your child has not yet been enrolled, you can apply here.

   For children over age 3, you will need to go through DDD (Division of Developmental Disabilities). You may have a social worker assist with this process or apply here.

   Once qualified for AzEIP or DDD, seek approval for ALTCS (Arizona Long Term Care Services). ALTCS is the disability division of AHCCCS (pronounced “access” Arizona Health Care Cost Containment System). But unlike AHCCCS, children with qualifying disabilities are eligible regardless of parent’s income. Once approved, this state-funded insurance will cover all medical costs, medications, therapies and more. Begin the application process here.

   You can find more information about how these Arizona state benefits intersect with Prader-Willi syndrome specifically in the state benefits section of this website.

3. Find a good pediatrician.

   Your child’s pediatrician doesn’t need to be an expert in Prader-Willi syndrome specifically, but they should have experience with complex medical needs. They should understand that children with PWS follow a different growth curve, present differently when sick and achieve milestones at a slower rate than neurotypical children. An open-minded pediatrician willing to learn more about Prader-Willi syndrome, who writes all the referrals you need without hesitation and feels right for your family is ideal. For suggestions on pediatricians other Arizona PWS families have had success with, visit the provider directory section of this website.

4. Find an endocrinologist who is an expert in Prader-Willi syndrome.

   Your child’s endocrinologist will be the most important specialist on your medical team. In Arizona, we highly recommend Dr. Oliver Oatman of Phoenix Children’s Hospital. If you do not live in Phoenix, virtual appointments are an option. Your child’s endocrinologist should be up-to-date on PWS research, aware of current clinical trials and have experience with the PWS population. In Arizona, Dr. Oatman is the only specialist with this level of knowledge and expertise. We are lucky to have him. Ask your pediatrician for a referral or contact his office here.

   Should you choose to go with a different endocrinologist, be sure that endocrinologist understands the importance of starting Human Growth Hormone (HGH) in infancy. If your endocrinologist resists you on this request or suggests waiting until age 2 to begin HGH, that is a classic sign they are not current with Prader-Willi syndrome research. More information on the benefits of starting HGH in infancy for the PWS population can be found in the new diagnosis packets from PWSA and FPWR, on their websites and here.

5. Build your team.

   Your child will need a team of professionals, especially in the beginning. This team looks different for every child but almost always includes a pediatrician and endocrinologist as mentioned, and also a team of therapists and other specialists depending on your child’s unique needs.

   If your infant has a gastronomy tube (G-tube) placed, a gastroenterologist is needed. Due to their weak suck, most infants with PWS will require some type of assistance for feeding whether that be a nasogastric tube (NG tube) or G-tube. In Arizona, our NICUs are far more hesitant than other states to send families home with an NG tube and will likely insist on having a G-tube placed before discharge despite the fact that NG tubes have been shown to be tolerated quite well in the PWS population. For more information on types of tubes and length of time infants with PWS require them, click here.

   Early intervention therapies are incredibly beneficial. A typical team consists of a physical therapist, occupational therapist and speech therapist. You will find that because Prader-Willi syndrome is so rare, it is likely most professionals on your team will be unfamiliar with the full scope of PWS. Try not to be disheartened by this. A therapist good at their job, should be good for your child. More information on beneficial therapies can be found in the therapies section of this website.

6. Take a breath.

   Processing a new diagnosis, applying for services and assembling the medical team that is right for your family is A LOT. We hope this guide helps take some of the time and guesswork out of it all. When you are ready, please know there is a whole community here in Arizona (and beyond) for you and your family. Never hesitate to reach out to us. You can also join our private Facebook group here.