>On Friday, you met Ali from Diving Into the Waves. She told you a little about how parenting to Dean has changed her life. She began to tell you about a disorder that has no cure called Prader-Willi Syndrome, or PWS for short. Today she is back to guest post and tell you more about her wonderful Dean and PWS. I’m keeping this short because this really is an important cause to me, and I feel that there isn’t enough information about it out there. I didn’t even know this disorder existed until Ali had Dean. And, I can totally relate to everything she says in her post today. I think you will too.
I’m a little obsessed with the TLC channel on TV. I think often about their motto, “Life Unscripted.” It’s not just a cute tag line, or really anything unique to them and the people on their shows. My own script for life in the end would probably look quite boring compared to what we have actually experienced.
About six years ago, I was watching the Dr. Phil Show (I know…) and there was an episode about childhood obesity. I watched as I judged the parents who let their kids eat crap and in whatever quantity and then didn’t understand why their children were unhealthy. Yup, I judged. And then there was a woman with a daughter with a rare genetic disorder called Prader-Willi syndrome. Dr. Phil explained that in PWS, the hypothalamus – an actual organ in the brain – does not function properly and they are hard-wired to be hungry all the time. ALL the time. As in, eat a full meal, and they’re still physiologically hungry. Coupled with a naturally low metabolism, these children battle obesity and other health problems for the duration of their lives. Left to their own control, they would eat themselves literally to death. I specifically remember being horrified by the description of this and thought, that would be horrible to have a child with that syndrome. That would be horrible to be a person with that syndrome.
Fast forward five years and I’m 35 weeks pregnant. I go in for a non-stress test because I had a lot of amniotic fluid and my suddenly “normal” pregnancy goes awry. I fail the test because my baby – a boy we would name Dean – was not moving much. They measure my amniotic fluid again and it’s off the charts. The doctors walk into my room where I was told to wait, and I knew. “We’re having a baby today, aren’t we…”. “Yes,” my OB replied. I had a few hours to process this and the fears I’d had throughout my pregnancy that something was just a bit *off* suddenly were coming true. At 2:33pm, my sweet Dean Thomas was born… barely crying. He sounded like a little lamb bleating in confusion. He could barely move his limbs. His body temperature was all over the place. He wouldn’t eat. His blood sugars were low. He was dangerously anemic. He slept 23.5 hours a day. Over the next few weeks as countless specialists swarmed around Dean’s bay in the NICU and one amazing geneticist among them said the words, “Prader-Willi syndrome” once again, I was transported back to that episode on the Dr. Phil Show. Talk about life unscripted.
Dean turned one on April 28 and he is doing so well. We had no clue what to expect for him a year ago and honestly, in many ways we still don’t. Rather than let PWS script his life, we want *him* to write his own script. We have been through a lot in the last year: a month in the NICU, three surgeries, nine months on a feeding tube, two sleep studies, daily growth hormone injections (which he’ll have for life), countless specialist visits and weight checks, weekly speech therapy for feeding, physical therapy 1-2 times a week, even flying yearly to Florida to meet with a PWS specialist (since, being a rare disorder, many doctors just aren’t familiar with correct treatment). And this is all for a little boy with PWS who for the most part, is doing very well. His development is quite delayed, but he is happy and healthy and so cute it should be illegal. 🙂
The worst part yet is the endless hunger that will set in at some point, we don’t know when. Typically this is between two and eight years of age. Until then, we plug away and just try to give him and Cole, our older son, the best lives we can. THERE IS NO CURE FOR PRADER-WILLI SYNDROME. Dean and the other angels with PWS need your help to fight this awful disorder. It is a chromosomal disorder that randomly strikes about 1 in 15,000 people across gender and racial lines. Many people are walking around with PWS and don’t even know it. PWS is not routinely screened for and most healthcare professionals know little to nothing about it. I know there are a gazillion other causes that are probably dear to your heart – I know that is the case for me! But PWS has affected our family in a way that obviously we cannot deny, and we want a cure. Please visit FPWR.org, the website of the Foundation for Prader-Willi Research, where you can learn more about PWS, how you can get involved, and how you can donate. If nothing else, we just want you to *know* about this. God bless you guys!!!
And, just in case you forgot, Ali really is an amazing mom, woman and friend. Seriously. She even makes a line of gorgeous jewelry she calls “You’re Beautiful“.
Leave us some love, and if you are interested in knowing more about PWS, feel free to ask Ali on her blog
. You can also check out the link to the PWS website I included above (or just click here
if you missed it there).
What causes are dear to your heart?
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