Wednesday, May 29, 2013

PWS Awareness Day #29: Reflection - Part I

I haven't covered all the topics (there's still seizures, skin picking, mental health issues, and more...), but for the last three days, I just want to write a few reflections about PWS.

I first heard about PWS maybe 10 years ago when I was watching the Dr. Phil Show (before it became Jerry Springer lite) and saw a mom with a child with PWS. I remember hearing that the child faced an unrelenting, physical feeling of hunger no matter when or what they ate, and it didn't help that this poor mom had hardly any supports and seemingly didn't even understand PWS herself. She didn't realize this was out of her child's control. I remember thinking to myself (no joke), 'What an awful disorder. I can't imagine having a child with Prader-Willi. That just sounds so... hard.'

Fast forward however many years later. Bob and I are sitting in the NICU at Children's Hospital Boston and I'm looking at our sweet baby Dean sleeping away - because that was just about all he was able to do - in his bay. The geneticist Dr. David Harris came to us with his assistant and started to explain all the physical characteristics that leaned towards a genetic diagnosis: widely spaced nipples, low-set ears, big head compared to a very small body, curved pinky fingers, undescended testicles... none of these by themselves mean anything, but as a constellation of symptoms, they point to something else. Then he explained particular features of Dean's face and head, combined with his severe hypotonia and feeding issues, pointed to a particular diagnosis. They'd weeded out some of the trisomies, muscular dystrophies, and although they were going to run all the tests, Dr. Harris said he was 99.99% sure it was Prader-Willi syndrome.

There it was. It was something I had heard of before, and although it seemed so awful then, at this point, I knew it meant that my baby would LIVE and that was all I needed. Up to then, they hadn't been able to tell me anything definitive (My "is he going to be a vegetable for the rest of his life?" was met with, "well, we don't know just yet..." after Dean was born). He would LIVE.

Dr. Harris took a higher road than the doctor we met with the previous day had taken. She had quite a bleak outlook on Dean's future. Dr. Harris told us, "This is going to be hard," and then, "but you can do this. You can give Dean a good life. There are treatments now like with growth hormone, and you can monitor his diet and likely control his weight. There's a lot out there."

I was relieved knowing that someone had an idea of what was going on, but it wasn't until we got the official diagnosis almost 3 weeks later that it really sank in. 'My baby has Prader-Willi syndrome.' This is not a doctor scribbling notes and sitting back in a chair rolling through a differential diagnosis in his head. They actually ran tests of my baby's DNA and some of it... just isn't there. You can't deny that.

The pain was so great only because this was my son and I knew from the minute he was born and something was very, very wrong that I was IN IT with him, whatever that meant. If I didn't love him so much, it wouldn't really have mattered. But I did. And I do. Bob and I took Dr. Harris' words to hurt and we resolved that we WOULD give him a good life, with God's help, and with the help of our family and friends.

As you know, the story doesn't end there... please read more tomorrow....

(photo credit to Nick Wasch)

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