What is Prader-Willi Syndrome?
- PWS is a rare, life-threatening medical disorder caused by a loss of genetic material on the paternal copy of chromosome 15.
- PWS affects approximately 1 in 15,000 people. PWS occurs randomly, affecting males and females and people of all races and ethnicities equally.
Challenges associated with PWS
Nearly every system in the body is impacted by a PWS diagnosis. PWS affects:
- Body composition
- Muscle strength
- Cognition and learning
- Temperature regulation
- Pain tolerance
- Sleep patterns
The hallmark symptom of PWS is hyperphagia, or continuous, extreme hunger. A person with PWS never feels full. Exacerbating this problem, those with PWS have a slow metabolism and need only a fraction of the calories compared to their peers.
Evan has not entered hyperphagia yet. It usually begins sometime between 2 – 8 years old.
What causes PWS?
Evan has PWS by deletion (type 1), which means he’s missing a small piece of his 15th chromosome.
Of the 20,000+ genes that make up the human body, Evan is missing about 14. Identifying the function of each gene is an ongoing area of research.
Fun fact – Evan’s light features are the result of a missing pigment gene!
There is no cure for PWS, but some therapies and medicines may help alleviate some symptoms.
- Medical Team: Evan’s crew includes two endocrinologists (1 local, 1 in Florida, a PWS expert), nutritionists, geneticist, urologist, pulmonologists (1 general, 1 sleep specific), ENT, developmental pediatrician, primary care physician, neurologist, cardiologist, optometrist, and orthotist.
- Therapy: Evan was 4 days old when he had his first therapy session. He has physical and speech therapies weekly (and just graduated from feeding therapy, whoo-hoo!). He is on a waiting list for hippotherapy.
Physical Therapy – Evan took his very first steps in PT a few weeks ago. We work hard on core strength to help with balance, and he wears orthotics for ankle stability. He loves his walker and has started climbing!
Speech Therapy – Evan uses signs, including more, eat, walk, and my favorite, please. He says a handful of words including roomba, bubble, Ah-buh (Abby, our dog), and his favorite, cop (helicopter). Speech does not come easily to him, but he’s attempting more sounds and signs daily.
- Evan takes 8 daily medications and supplements to keep him healthy, including…
- Growth Hormone is delivered via needle injection every night. All bodies naturally make GH, but Evan’s body doesn’t make enough. GH increases height and improves weight distribution. It is often a lifelong treatment for those with PWS. Thankfully, Evan is usually a good sport about it! (The alcohol swab didn’t make it into this video!)
- Diet – Evan follows a special diet. Recent studies suggest that low carb, high (quality) fat diets help those with PWS manage symptoms. Because Evan is still little, he needs some carbohydrates for brain development, so I’ve dubbed his current diet “exploratory modified keto.” He’s never had a piece of candy or a slice of bread. A hunk of banana is an occasional treat for him.
So, what’s on Evan’s plate?
Kid is a fighter. Blake and I regularly say “…if only we could see a glimpse of him today when we were in the NICU.”
Because of previous miscarriages, my pregnancy was monitored closely, but we were regularly assured that our baby was thriving. Then, at 41 weeks, our baby emerged seemingly lifeless. Evan was resuscitated at birth, needed oxygen support for three weeks, and a feeding tube for over four months. We learned that Evan had major brain, heart, respiratory, and kidney concerns…not to mention weak muscles and a scary, pending diagnosis. Although fear and sadness still get us down sometimes, Evan lifts us up. No
milestone inchstone is taken for granted. He’s far more “typical toddler” than we ever imaged. He loves dancing, things that go, and destroying the tidy house we once owned. Life is way better with him in it.
Caring for Evan pages includes more about his specialized day-to-day care (I give this to Evan’s daycare teachers and babysitters).
The Foundation for Prader-Willi Research
We support The Foundation for Prader-Willi Research because they’re committed to a cure, investing over $9M into critical research and funding 130+ projects since 2003. Finding FPWR felt like finding home again after Evan’s diagnosis flipped our world upside down. We attended FPWR’s annual conference in Rhode Island last October – meeting families and researchers filled us with such great hope. We can’t wait for the conference in INDY this August. We LOVE being part of the FPWR family!
Media master Blake recently created videos to help explain VNS & the PC1 Discovery. There is so much we’re excited about! We learn about new developments weekly. See how the funds we raise impact Evan’s future by visiting FPWR’s Research page.
To date, Team Evan has raised an incredible $14,000 in the fight against PWS. Thank you, Team Evan! When we first learned about PWS, we were plagued with fear. The support from our team has been uplifting, empowering, and healing. We are so grateful that you are committed to helping Evan LIVE LIFE FULL, not just in his belly, but in all aspects of his life. You make a difference. Thank you!!!
Visit our fundraising page: Team Evan
ALL DONATIONS MATCHED May 2 – May 9 for PWS awareness month!
One Small Step Walk – September 16, 2017, Washington Township Park, Avon, Indiana
Evan’s Ride – October 7, 2017, Eagle Riders, Motorcycle charity ride
- My PWS Pinterest Page – articles, videos, inspiration, more
- Team Evan Facebook page – request to join & follow Evan’s journey
- Prader-Willi Syndrome Association – PWS family support and more!
We would love to answer any questions you have about Evan or PWS. Please ask!
Awareness = funding = research = A CURE!
Natalie, Blake, and little warrior Evan