Prader Willi Syndrome - the test

Rather quickly after Olivia's birth, I noticed how floppy she was compared to Amelia when she was born. Because of the traumatic events surrounding her birth and the medications she was on, for the first week or so we anxiously waited for the drugs to wear off and her body to stabilize from the shock - hoping that was the reason for the low tone.

It quickly became apparent that was not the case for her. Every day I would look at her in the incubator in the NICU and watch for any signs of movement, sound or tiny bit of progress. They ran test after test on her, trying to find out what the issue might be. I remember the geneticist (Dr. Pai) coming to me and shaking my hand as one of the tests. Apparently one of the possibilities involved a genetic disorder inherited through the mom and a weak handshake would be a positive sign to test further. I found all the information being thrown at me both fascinating and overwhelming at the same time. If all tests came up negative, the diagnosis would be hypotonic cerebral palsy simply by process of elimination, if I remember correctly.

About halfway through our stay, Margaret came to me and mentioned that the geneticist was testing for Prader Willi Syndrome. When she told me that, my heart sank. I knew exactly what it was - I had recently watched a short documentary on some adults with PWS who lived in a house together. For their own safety, the food was locked up, chains were around the freezer and refrigerator and the doors locked them in at night and out of the kitchen. She was slightly surprised I knew what it was, as very few people have heard of it, and told me it was a long shot. The only thing I remember from that conversation is a flippant remark I made..."Well, at least she'll eventually be able to walk!" Up to that point, we thought that Olivia might not ever move much more than she was at the time. I also think I remember her saying, "Whatever you do, don't go and look it up on the internet. Dr. Pai said there is much more current information with positive outcomes and it isn't as bad as it used to be."

So of course I went right to the RM house and looked it up on the internet. The more I read, the more I became sick to my stomach. Every symptom it listed matched. The pictures of the kids looked like Olivia. I knew in my heart that she had it, even while hoping that she didn't and that I was wrong.

There's a remarkable lack of current information on the internet about PWS, with the exception of the PWS organizations. It's not often that you find the internet trailing behind, but to this day Wikipedia still is missing accurate information. I didn't find this out till much later, because my heart was so heavy that I stopped searching the internet a bit too soon to find out what hope was out there. It's still an awful syndrome, but the prognosis is much better than it used to be.

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. It occurs in males and females equally and in all races. Prevalence estimates have ranged from 1:8,000 to 1:25,000 with the most likely figure being 1:15,000.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

Weeks later, the test came back negative. When I found out I began crying and hugging Margaret for joy, yet part of me still felt uneasy.