Prader Willi Syndrome Testing

Austin is a silly, brave, unique 8 year old  boy that I'm proud to call my son. He also has a lot of challenges in front of him. At age 5 he was diagnosed with having autism spectrum disorder,  luckily hes very high functioning. Later that same year he was diagnosed with ADHD with impulse control issues and sensory processing disorder.  He also has fine motor delays.
In January 2018, I was informed that he has a lot of the signs of Prader-Willi Syndrome.  I had never heard of PWS so here's some information about it.

What is Prader-Willi syndrome?

PWS is a complex genetic disorder affecting appetite, growth, metabolism, cognitive function and behavior.  It is typically characterized by low muscle tone, short stature (when not treated with growth hormone), incomplete sexual development, cognitive disabilities, behavioral problems, and the hallmark characteristics – chronic feelings of insatiable hunger and a slowed metabolism that can lead to excessive eating and life-threatening obesity. Those who have PWS need intervention and strict external controls, sometimes including padlocking access to food, to maintain normal weight and to help save their lives.

How many people have Prader-Willi syndrome?

It is estimated that one in 12,000 to 15,000 people has PWS.  Although considered a “rare” disorder, PWS is one of the most common conditions seen in genetic clinics and is the most common genetic cause of obesity that has been identified to date.

Why does Prader-Willi syndrome occur?

Most cases of PWS are attributed to a spontaneous genetic error that occurs at or near the time of conception for unknown reasons. In a very small percentage of cases (2 percent or less), a genetic mutation that does not affect the parent is passed on to the child, and in these families, more than one child may be affected.  A PWS-like disorder can also be acquired after birth if the hypothalamus portion of the brain becomes damaged through injury or surgery.

What is the cause of Prader-Willi syndrome?

Basically, the occurrence of PWS is due to lack of several genes on one of an individual’s two chromosome 15’s – the one normally contributed by the father.  In the majority of cases, there is a deletion – the critical genes are somehow lost from the chromosome.  In some of the remaining cases, the entire chromosome from the father is missing and there are instead two chromosome 15’s from the mother (uniparental disomy).  The critical paternal genes lacking in people with PWS have a role in the regulation of appetite.  This is an area of active research in a number of laboratories around the world, since understanding this defect may be very helpful not only to those with PWS, but to understanding obesity in otherwise normal people.

People with PWS have a flaw in the hypothalamus part of their brain, which normally registers feelings of hunger and satiety.  While the problem is not yet fully understood, it is apparent that people with this flaw never feel full; they have a continuous urge to eat that they cannot learn to control.  To compound this problem, people with PWS need less food than their peers without the syndrome because their bodies have less muscle and tend to burn fewer calories.


His weight was going up rapidly,  he had started acting like he was starving, he was picking the skin around his nails and his learning delays were holding him back at school more..
  I was told he need DNA methylation analysis  testing for a full diagnosis.  The problem is my insurance denied the testing but has said they will pay for treatment.  There is a group that Austin's geneticist knows, that will do the testing for a reduced cost but even that is too much for me right now.

I am a widow, my husband passed away suddenly March 2017, leaving me in a world of debt. I'm an assistant teacher for children with special needs with Fairfax County Public Schools.  I'm pinching every penny just to make it day by day.
Any help is appreciated, even if it's just spreading the word. I just want to get Austin the help he needs to live a quality life. Thank you!