HGH

Every night Ellie gets a shot...

Initially, I had such a hard time coming to grips with this, but now it is just part of her routine.  

• Bath
• Shot
• Milk
• Book
• Prayers
• Night-Night

Ellie has done absolutely fantastic getting this shot.  I was a nervous wreck the first time the nurse came to the house show us how to administer it, and then the first time I gave it to her...I shook like a leaf.  But now, David and I could give it to her in our sleep, and Ellie helps us...she tells us every night which side (booty cheek) receives the shot...it is the cutest thing, and of course we marvel at how smart she is, because she is right every time!

The shot she gets is a Human Growth Hormone (HGH) injection.  I know it is not a magic injection, but the benefits HGH provides to individuals with PWS are amazing.  I am so, so thankful that Ellie is able to receive this treatment.  "Growth hormone deficiency is present in almost all children and many adults with PWS. In multiple studies, human growth hormone (HGH) has been found to be beneficial for those with Prader-Willi syndrome. In June of 2000, HGH was officially approved by the Federal Drug Administration (FDA) in the United States for use in patients with Prader-Willi syndrome. HGH 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 addition, studies suggest its positive effects on development and behavior" (http://www.fpwr.org/prader-willi-syndrome-diagnosis-treatments/).

Ellie began HGH injections when she was 6 months old.  Because children with PWS can have a high incidence of central and obstructive apnea, Ellie had to have a sleep study before she could begin HGH.  We will continue to be followed by pediatric sleep medicine, since Ellie does have both central and obstructive apnea, and they will want to monitor her closely.  They will keep a close eye on her tonsils as well, because HGH can often lead to the increased growth of these, and they potentially may need to come out in the future.

Upon reading various articles about HGH, I found the following on PWSA USA's website, that I believe helps everyone understand PWS and the benefit for HGH a bit better, because it answers the question, "What causes growth problems in children with Prader-Willi syndrome?"

"Researchers strongly suspect that the part of the brain called the hypothalamus is the main source of the growth differences in PWS. A tiny part of the central brain, the hypothalamus connects the body’s two key systems for survival and maintenance—the nervous system and the endocrine system. In addition to playing a key role in growth and sexual development, the hypothalamus regulates appetite, metabolism, body temperature, mood, and other functions that we know are affected in people with PWS. It is likely that one or more of the genes that are missing (or not functioning) in people with PWS supply essential instructions to this part of the brain.

To understand growth and growth hormone treatment in Prader-Willi syndrome, it is helpful to have a basic understanding of how the hormone—or endocrine—system normally works. The endocrine system is made up of all the glands that produce and release hormones into the bloodstream. Just below the hypothalamus, and directly attached to it, is the pituitary gland. Called the "master gland" because it receives messages from the hypothalamus and relays them to the other endocrine glands, the pituitary makes and releases many hormones. Among these are growth hormone (GH) and the hormones for sexual development and reproduction (LH and FSH). If the pituitary does not make or release enough of these hormones, then the organs that depend on them cannot do their job" (http://www.pwsausa.org/syndrome/GHQ&A.htm).  

This question and many more are answered in the book, "Growth Hormone and Prader-Willi Syndrome A Reference for Families and Care Providers", by Linda S. Keder

Also, "Our study shows that GH treatment prevents deterioration of certain cognitive skills in children with PWS on the short term and significantly improves abstract reasoning and visuospatial skills during 4 yr of GH treatment. Furthermore, children with a greater deficit had more benefit from GH treatment" (http://www.ncbi.nlm.nih.gov/pubmed/22508707).  This is huge for us, and for Ellie.  HGH has endless benefits for individuals living with PWS.

For David and I, we fully believe in HGH as a beneficial treatment for Ellie.  Every family must make their own decision about this, and must do so with the help and care of a pediatric endocrinologist.  We are so thankful and blessed to have two of the best caring for Ellie:  

• Dr. Jennifer Miller, Assistant Professor in the division of pediatric endocrinology, University of Florida, and leading PWS Expert
• Dr. Elaine Moreland, Pediatric Endocrinologist, Children's Hospital Outpatient Center of Greenville Health System

So, for us, we will continue to read, research, and learn about HGH and other potential treatment options for our daughter.  Luckily, we live in a time where science is ever-changing, and discoveries, therapeutic treatment and options are hopeful for PWS and other rare diseases.