Jennifer Beyers wrote -
"It's a Boy!", Troy said with joy. Llewyn James Burke, 5 pounds, 13oz, 20"long. Mommy and Daddy were so in love...but something was obviously wrong. Instead of flailing his arms and legs around and crying, my baby was lying limp and silent as the Dr.'s immediately evaluated him. We kept asking, "is he ok? Is he breathing? What's wrong?"
Llewyn was breathing well on his own, but he was born with severely low muscle tone. The low muscle tone, combined with a few other signs from their evaluation, made the Dr.s decide to take Llewyn immediately to the NICU.
Llewyn could not eat by mouth. He did not have the "suck, swallow, breathe" reflex that babies are naturally born with, so he started receiving my breast milk through a tube in his nose. (NG Tube)
Teams and teams of Dr.'s and nurses started their assessments, exams, Blood draws, sonograms, x-rays, IV, monitors, you name it.
Llewyn was in the hospital for about a month.
During that time he had a G-tube surgically inserted into his belly so that we could take him home and feed him through the tube while he practiced eating via bottle and drops on a pacifier. Every team of Dr.'s that examined him came back with no abnormalities on the tests they ran. Then, 3 days before finally bringing him home, the genetics team gave us their findings.
Llewyn had tested positive for the Prader- Willi Syndrome.
What is Prader-Willi syndrome?
Prader-Willi syndrome (PWS) is the most common known genetic cause of life-threatening obesity in children. Although the cause is complex it results from an abnormality on the 15th chromosome. PWS typically causes low muscle tone, short stature if not treated with growth hormone, incomplete sexual development, and a chronic feeling of hunger that, coupled with a metabolism that utilizes drastically fewer calories than normal, can lead to excessive eating and life-threatening obesity. The food compulsion makes constant supervision necessary. Average IQ is 70, but even those with normal IQs almost all have learning issues. Social and motor deficits also exist. At birth the infant typically has low birth weight for gestation, hypotonia (weak muscles), and difficulty sucking due to the hypotonia which can lead to a diagnosis of failure to thrive. The second stage (“thriving too well”), has a typical onset between the ages of two and five, but can be later. The hyperphagia (extreme unsatisfied drive to consume food) lasts throughout the lifetime. Children with PWS have sweet and loving personalities, but this phase is also characterized by increased appetite, weight control issues, and motor development delays along with some behavior problems and unique medical issues.
3 days after his diagnosis, we FINALLY got to take our little Llew home!
Since he has been home he has been growing and beginning to thrive!
His muscle tone is improving every day and he is starting to hold his head up on his own! He WILL reach all of the milestones of a child without PWS, just slower is all.
He sees about 10 specialists currently and we have multiple appts every week.
Llewyn will need special care and an extremely strict diet for his whole life, but I also know that he will receive an unmeasurable amount of love, support, friendship and opportunity!
Troy and I are dedicated to making sure Llewyn lives his life happy and healthy, but hey, that's what parents are here for, no matter what!
He has already taught Troy and I more than we will ever be able to teach him, and I have a feeling it'll continue to be that way.
HOW CAN YOU HELP?
There is currently no cure and no treatment for the hyperphagia (insatiable hunger) in Llewyns near future. He will never feel full no matter how much he eats and his metabolism does not burn fat as fast as a person without PWS. So, if the hyperphagia wasn't enough, he is only allowed 1/2 the amount of calories as a person without PWS.
We NEED a treatment that can allievate these symptoms. Oxytocin is the only drug thus far that has achieved great success in treating the symptoms of hunger and behavioral issues that manifest due to the disorder itself. The Oxytocin trial, during Phase 1, showed extremely promising results in improving the lives of those affected by PWS by relieving these issues.
The first trial had FANTASTIC success! With your continued support, Dr. Jennifer Miller can get the phase 2 study underway! Donating through this website is simple, fast and totally secure. It is also the most efficient way to support my fundraising efforts. Many thanks for your support, and please forward this to anyone who you think might want to donate too!
Thank you for reading our story.
Llewyn, Troy and Jen