PWS Awareness Day 2: Birth

We knew something was wrong the moment Oscar was born.  His arms and legs hung at his sides. He didn't cry.  He was blue.  In the five days before the geneticist suggested we "rule out" Prader-Willi syndrome, Oscar racked up more symptoms.  His rag-doll appearance was due to hypotonia, or low muscle tone, and that, combined with his excessive sleepiness, inability to nurse, downturned mouth, almond-shaped eyes, and undescended testes pointed to a serious issue. 

Infants with PWS exhibit most or all of these symptoms to varying degrees.  Oscar was the first baby to be diagnosed at our local hospital in many years.  But within a month they were testing another baby, and by the following year four babies total had been diagnosed.  I do wonder how many were missed before Oscar came along.  Before improved genetic testing and increased awareness of these early characteristics, many children were not diagnosed until the more well-known signs of PWS -- insatiable appetite, morbid obesity, and behavior challenges -- appeared. 

Here Oscar is, just a few hours old.  His hypotonia was significant, especially in the trunk and arms. He felt loose, as if his bones were just shoved into sleeves of skin with no muscles to keep them in place.  I want to go back and pick up this baby again now.  Now that I am no longer afraid, now that he is much more than a list of scary symptoms. Now that he is thirteen and joking around at the dinner table with his equally goof-ball siblings.