Wednesday, January 21, 2009

Post #2: That PWS Thing, Part 2

Hi everyone. This post-a-day thing is somewhat fun....although I have to admit I have other projects tempting me away from the computer! But, onward. I have never sat down and actually documented the first days of our experiences after S. was born, so this is a good thing!

I can't believe she is 5 years old now. Those first 6 months were so freakin' difficult, to look towards the future during those days was more than our minds could bear for any length of time. Parents who were further down the PWS road with their kids told us, repeatedly, that things would get better, but at the time that seemed hard to believe. When we were able to bring her home from the hospital I remember thinking "well, now everything will be fine, she'll just have us giving her bottles instead of a different nurse every time, the issues will just resolve themselves." We didn't have a diagnosis at that point, and although the neonatologist referred us to a geneticist for further testing, I put it off for a week or two....not sure why. Probably a bit of denial going on. I know at one point I said to B. that I wasn't sure S. was going to make it; she was just so sleepy, so floppy, and seemed to have little/no desire to eat - all very unlike the average newborn. Making sure she ate enough was incredibly challenging. A large percentage of babies with PWS leave the hospital(NICU) with some kind of feeding tube, but S. did not. We ended up feeding her first from a bottle (on which the nipple was a fast-flow version, and we even squeezed the bottle itself just slightly), and then when she ran out of energy we used a medicine dropper or a spoon. Doing this every three hours for several months....exhausting, frustrating.

When we finally did take S. to the genetic specialist, Prader-Willi Syndrome was mentioned as she evaluated S., and neither of us had ever heard of it. The doctor didn't say that S. had PWS for sure - of course tests needed to be run - but that S. seemed to show signs of this. Once we got home, I of course looked up the syndrome on the internet, and initially did not find anything. B. went out of town for work, and while he was gone the doctor called back with a positive diagnosis for PWS. B. immediately hopped on a plane and flew home. And thus the journey began.

The news was a shock to us, and also to our extended families. How could we explain this adequately to them, when we had never heard of PWS ourselves? What do we tell all the friends and neighbors? PWS is such a complex syndrome...there are so many things could happen, that might happen, in the course of S.'s life with PWS. But on the other hand, not all children with PWS experience all of those things. We didn't know this then! This was something we learned as time went by. S. did begin to "wake up", she did start to pay attention to her environment, she did start to smile at us and eventually even did that "belly giggle" that is so absolutely adorable. We slowly learned how best to help her and what therapies etc. would benefit her the most. She started growth-hormone therapy at 10 months, and we are glad we decided to do this for her.

These days, S. is a stubborn, happy, smart girl who loves to have fun, loves going to preschool, loves her big sister and her parents. She loves people in general! Basically she is doing 100% better than we ever, ever expected when we first began to educate ourselves about PWS. S. will even be going, most likely, to full-day kindergarten in the fall, which just boggles my mind a bit. Granted, she definitely still exhibits her fair share of PWS characteristics; that is just a fact of our lives. But we are able to live a fairly normal family life, albeit with a great deal more attention paid to what we eat and when we eat it. (Yes, I do confess to eating a bit more junkfood, late at night after S. is in bed, than is good for me...sigh. :-) )

Well, I guess that's the post for today. There's a lot more I could say about the syndrome and how it has affected all of us, but I'll save that for another day!

On a weather-related note, I am tired of being cold!!!!!!


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