One of the many common symptoms of Prader-Willi Syndrome is growth hormone deficiency. This is believed to be because of the missing or non-working genes on Chromosome 15 and how they effect the function of the hypothalamus, and thus the endocrine system, including but not limited to growth, thyroid and sexual development.
Siena began receiving Growth Hormone Therapy in December 2011 after completing sleep studies and having her adenoids removed because of severe sleep apnea (which is also commonly found in PWS). The photos below are from one of her many sleep studies and our train ride to Philadelphia to learn how to administer her shots and was the first day she received Growth Hormone. She has gotten a shot ALMOST every day since.
I say ALMOST, because although we visit Siena’s endocrinologist, the phenomenal Dr. Jennifer Miller at Shands Children Hospital at the University of Florida every year, and she follows Siena’s growth hormone deficiency through blood tests every three months and prescribes the HGH therapy, it is EXTREMELY difficult to get approved through insurance. I cannot begin to calculate the hours I have spent on the phone with insurance and drug companies to get the growth hormone for Siena. And not all growth hormone is created equally, some have preservatives, some don’t, some come pre-dosed, some don’t, some work well, some don’t. Unfortunately, not all the growth hormone approved by insurance companies are effective. Thankfully there are pharmaceutical companies that offer co-pay assistance programs, especially as you are first starting out on your journey with growth hormone therapy. Without insurance or assistance the therapy could cost upwards of $500/month. There have been 30 day gaps where I have not been able to get Siena her growth hormone, but we are thankful that for the most part she has been able to receive it for the past 9+ years.
Here is a little more info about Growth Hormone Treatment :Growth Hormone treatment was approved by the US Food and Drug Administration for children with PWS in June 2000. Since then, several benefits have been reported, and growth hormone therapy for PWS has become an important step after an initial diagnosis. Human growth hormone is effective not only in increasing height, but also in decreasing body fat, increasing muscle mass, improving weight distribution, increasing stamina, and increasing bone mineral density in PWS. In addition to these positive effects on growth and body composition, studies suggest positive effects on development and behavior. There is mounting evidence that adults with PWS benefit from continued HGH therapy, even after growth is completed.
For more info here is a great read. https://www.pwsausa.org/…/Growth-Hormone-booklet-final.pdf
If you would like to donate to Siena’s Fundraising Page for the Foundation of Prader-Willi Research here is the linkhttp://act.fpwr.org/site/TR?pg=personal&fr_id=1732…