What is this blog site about anyway? I wanted a platform that I could use to talk about how a hard, drama filled, challenge filled, turmoil filled life can still land on its feet. How one can go from rags to riches. How there is so much power and beauty in recovery. How searching for your authentic self on your way through the muck will actually add to your strength and character, AND that it all shouldn’t be taken lightly. So is it sometimes a mess of blog posts that seem to have no flow or cohesiveness? Totally. 
Which is why I’m mainly including this paragraph in this blog… because I’m about to totally go off on a tangent about my son’s diagnosis. This topic does in fact fit in the above definition of this site because it was a very, very difficult time in the beginning that then led to a little bit of losing myself inside his syndrome. Because May is Prader Willi Awareness Month I wanted to talk a little bit about it.
Koen Henry is 22 months old and just the happiest of all babies. I know people say that about their kids all the time, but I’m telling you that combined with the fact that it’s part of his syndrome that it takes too much energy to cry with just the best disposition, he really is just ridiculously happy.
Koen is our fourth child so very soon after coming home from the hospital I knew something was wrong. He couldn’t eat and had little to no alert time. After going to the doctor they referred us to UVA where they didn’t wait long to admit him. He had lost over a pound since birth and if nothing else they needed to get him hydrated. In the PICU he had every test under the sun done. Too many to count. We were there for 2 weeks and were sent home without a diagnosis but with an NG tube in his nose for feedings. At least we could start to get him gaining weight. Well, he wouldn’t leave the damn thing in his nose so back to the hospital we went to have surgery to put the gtube in his belly. There was so much hemming and hawing at this… back and forth, worry, tears, and the trusty “what did I do to and why can’t I help my baby?!” Such an emotional time. 
His diagnosis came at 8 weeks old. Prader Willi Syndrome. This wasn’t a surprise to me because when we went to the geneticist for testing they gave us a document explaining the panel that they would be testing for. I researched them all and knew immediately, based on his symptoms, that it was Prader Willi. So I wasn’t surprised, like I said, but was definitely in shock. It became real all of a sudden. From the time we went to the hospital the first time until the diagnosis we had already taken advantage of several resources. He was entered in to early intervention to receive at home services for pediatric visits, physical therapy and speech therapy. We were going to our regular PCP often as well for inoculations and constant weigh ins. Follow ups with the geneticist and surgeon. After the diagnosis came we were introduced to Dr. Miller down in Florida who is an endocrinologist that specializes in Prader Willi Syndrome. She’s amazing!!
So what is PWS? Good question. I’m not going to copy and paste textbook definitions, I’m going to just put it out there from my perspective. PWS is a genetic disorder affecting chromosome 15. It affects the hypothalmus, therefore all of the hormones. How it presents in infancy looks a lot like “failure to thrive.” Extreme lethargy, lack of strength, hypotonia or low muscle tone, inability to latch or suck, sometimes low body temperature as well as low sugar readings. It affects cognitive, behavior, sex hormones, can often be short in stature and very low muscle tone, and hunger. More often than not by ages 2 to 5 they develop hyperphagia or the inability to feel full/always hungry. In the beginning we’re trying desperately to get them to eat and gain weight and then they spend the rest of their life trying not to eat too much or gain weight. Crazy, right?
PWS is rare. One in 20,000. But we have such knowledgeable professionals with an interest in teaching us, and continuously researching, testing, and searching for a cure. It’s truly amazing the list of people that Koen has in his corner, helping him regularly to live a very full life. He’s almost 2 and doesn’t talk or walk yet. But even though there are delays in reaching his milestones he will reach them all the same.
The growth hormone!! Sixteen years ago the growth hormone was introduced to babies with Prader and can I just tell you… the statistics are amazing! Not only does it help them in the actual growth area, it helps, by leaps and bounds, cognitively. The average IQ in an adult with PWS before the growth hormone was 65. Now with GHT the average IQ in an adolescent is 87. I mean… that’s just nuts! Good nuts!
In the beginning, it was all, get me my cape… I’ve got this super mom thing. I can at least adequately tend to the needs of my three older children while at the same time learning how to be a special needs momma. And I did. Better than adequately. I thrived on learning more and celebrating, not only Koen’s milestones, but all that my other babies were accomplishing too. And the relationship that they have with Koen?? Forget about it. Special doesn’t even come close to describing it. 
Well, about 13, 14 months in to this amazing baby’s life I found myself slipping into a rather ambiguous depression. Was it because of this or because of that? Let the over thinking begin. Well, it turns out that in the process of adding a new identity (special needs mommy) to my others I got lost inside of it. I was now JUST and ONLY a mom of a boy with special needs. I felt as if it was what defined me. What I was recognized for. How people related to me or even noticed me for that matter. When in truth I simply stopped doing the things that equal out to that of self care. Isolated. It took me forever to find what was really wrong and then even longer to decide what to do about it. Really it just came down to talking about it and doing something outside of what I was normally doing in a given day. But so tough. We’re in a great place today. There’s a little more balance and a lot of laughs.
I still wonder daily if I’m doing everything right. I mean, the answer is a resounding NO… but the wonder’s always there anyway… Everyone’s diet could be better, we could definitely have the TV on less, I should practice Koen’s therapy with him a little bit more…. You know, the forever thinking we can be doing better. But what always weighs out at this time in my life (thank God) is that what I am doing is creating real, genuine, and goooood small people. With morals and a sense of humor who know that my love for them runs reeeeally deep. It’s so important that they know that. And they do. And most of the time that is enough. That fills me up.
The moral of the story is simply that shit gets heavy in all sorts of ways. Find it, do it, fall down… hard… but then get back up and get going again. For all of my mistakes and down times there’s an equal amount of something special to share.
Getting Honest 