Guest Blog: Diving Into Prader-Willi Syndrome

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.

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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!!!

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 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?

P.S. Don't forget to enter my super fantastic giveaway !!

Best Scoop of the Week-Diving Into the Waves

It's that time of the week, y'all, but this particular, it's REALLY special. Today I am featuring a personal friend, a courageous mom and woman who possesses one of the strongest faiths I have ever met. She (and her son) gives whole new definitions to the words hope, patience, perseverance. I'm telling you all, I want to be Ali when I grow up. Seriously. This lady rocks my socks off.

You see, when I first met Ali, she was pregnant with her first son. I have been privileged to watch her oldest grow into the beloved child he is today. I have been privileged to go through her second pregnancy with her, all the way to the premature birth of her second son, who was diagnosed with a disorder called Prader-Willi Syndrome. I have walked through the journey with her as she pours her heart and soul out, never questioning, always managing to find the rainbow, and always, ALWAYS remaining steadfast in her faith.

I'm telling y'all, she is one fantastic person. Your lives will be a little richer for having known her.

I want to increase the awareness of Prader-Willi Syndrome (PWS) because it is more common than people realize, and yet can be a very devastating ordeal to go through. May has been designated National PWS Awareness month, so I want to shout it from the rooftops. Once you meet Dean, you will too.

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I asked her: If you could pass along one thing you've learned as mother to Dean, what would it be?

Meet Ali from Diving Into the Waves.

I have learned always to put myself in the position of learner, not just teacher. Dean has taught me so much about what is joy, pride, accomplishment, peace and patience. Our experience with Cole as our first child was the typical child-raising experience, and we tried (and continue to try) to listen to him, but we do more teaching than learning. Then Dean came along and we knew really...nothing. In the absence of typical baby communication and development and processes, we had to listen. And it was strange, because in those absences, we felt to be in the midst of a very wise and already misunderstood little soul. The world wouldn't always "get" him, but we would. I imagine that in some ways, it's like people who lose one of their five senses and so they have to depend on the others to step up and take the place of that lost sense. We learned to be humble and listen to our sweet boy. I suppose somewhere along the way I have lessons to teach Dean, but it really feels like it's going to be more one-sided than I would ever have imagined. Bob and I as parents have much for Dean to teach us.

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See what I mean? She'll be back on Monday to tell you more about PWS. Leave some love for Ali by stopping by Diving Into the Waves. Take a look around. You'll be hooked too.

P.s. Check out the giveaway I am sponsoring on behalf of Mission Monkey by clicking here. And still to come, I will be having a FABULOUS giveaway for my combination 200th follower and 100th post celebration. There's always good stuff to be found on The Scoop on Poop.
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