Running For Research - PWSCurrently there are no treatments for the most debilitating challenges of PWS.
Prader-Willi Syndrome was first described by Drs. Andrea Prader, Alexis Labhart and Heinrich Willi in 1956 based on the clinical characteristics they observed in 9 children. Sixty nine years ago. SIXTY NINE YEARS and NO CURRENT TREATMENTS! As I mentioned yesterday, only growth hormone is FDA approved for use with PWS and while it helps with many things, it doesn’t prevent the manifestation of the most serious and life altering symptoms of the syndrome.
PWS wasn’t able to be diagnosed through medical testing until around 1996. The genetic test was developed by a physician at the University of Florida. Prior to this, diagnosis was based simply on clinical observation.
Although the genetic causes of PWS are known, the mechanisms behind many of the most severe symptoms remain a mystery. Hyperphagia, the classic hallmark symptom of uncontrolled appetite, is one of those mysteries. We know it is a result of a malfunctioning hypothalamus. But until we understand the complex process of satiety ( which is not understood by current medical science for any human being) we will not be able to build a solution. Having never before thought about how my body knew I was full, when faced with this issue I was completely shocked to discover just how complicated it is and how many body systems are involved ( or thought to be involved) in the process.
Psychiatric issues, which I touched on in an earlier post, are largely understudied and under researched. This is a grave concern to me personally as Clementine is at tremendous risk for developing a mental illness. Anxiety is a major problem for Clem and while there have been some medications ( many of which have been prescribed off label, meaning not for their original use) that have been of assistance, nothing has been more than marginally successful. Anxiety has caused Clem to develop some self injurious behaviors. Things like skin picking and hair pulling. She has permanent scars up and down her forearms from skin picking. A few years ago, she pulled out all of the hair off of on one side of her head. She looked like someone from 1985 with her asymmetrical hair style! She had to have surgery 2 years ago to remove a bezoar, which is a mass of undigested food or non food items that gets stuck in the stomach and cause gastric pain. The bezoar was mostly hair she had ingested after having pulled it out of her head. Fortunately most of these behaviors have receded but new ones will continue to pop up to take their place. For example, Clem has just started to pull out her long and beautiful eyelashes. When I asked her why she was doing this, she simply told me that her brain was telling her to do it and she couldn’t ignore the compulsion.
I could go on at great length describing the symptoms and manifestations of PWS but I’ll skip that for now and just get to the main point of today’s post. We need answers. Answers to explain exactly how PWS causes all of the symptoms it causes. Answers as to why it is such a spectrum disorder that effects every individual differently and with a different mixture of symptoms and severities. Answers to all of the mental issues that arise and are life ruining. we have so many questions and so few real answers.
For Stephan and myself, waiting for answers to arrive isn’t a satisfying solution. The pain of watching your child develop these terrible symptoms is hard to describe to someone who hasn’t been in these shoes. Every day brings Clem closer to developing new symptoms that will upend her life and lessen her happiness.
Luckily patience has never been one of my strong points. While the lack of it has caused problems for me throughout my life, it this case it has served me well. As a family, we decided to take action. We created Running for Research Prader-Willi Syndrome to fund PWS research at the University of Florida. Research is the only answer to solving all of the mysteries surrounding PWS and developing real medical solution and treatments.
There is no research if there is no financial support. Clementine has the great advantage of calling Dr. Jennifer Miller her primary physician. Dr. Miller is a worldwide expert in the care and management of PWS but she is also a leading researcher of the syndrome. She has so many potentially life changing research topics she would like to explore but the lack of money required prevents her from taking action. This simply isn’t acceptable!
Running for Research PWS was created to raise the money required to move Dr. Miller’s research forward. In three years we, along with a group of amazing PWS families, have raised over $178,000 dollars and have funded one completed study and two new studies that are slated to begin this year.
Our 2022 campaign, which is active now, is raising money for one new research topic and the continuation of a study we will begin in the fall. Our goal is to raise $150,000 and we need your help! Without you, we will not succeed.
To those who have supported us, our debt of gratitude is immense. Thank you isn’t enough. But thank you is what I have to offer. That and the smiling face of my beautiful Clementine.
