Wednesday, February 4, 2009


Today, I was going through some files looking for some paperwork I need to send in for S.'s summer camp application. Basically I needed documentation of her diagnosis, to re-qualify for our MRDD office, so that she's then eligible to be included in this camp.

I looked through the file where I keep the clinic notes from our visits with the genetic specialist, and where I recently also put the diagnosis documentation. Stapled to one of these sets of paper was the piece of paper I took notes on when I got the phone call from the genetics office that did the first bloodwork....and wow, the memories came flooding back. I remember sitting at the dining room table, writing "Prader-Willi Syndrome" on the paper, and then the word "yes" with an arrow to the name of the syndrome. The doctor told me a few other things, one being that we had to take S. back for further bloodwork to determine which version of PWS she has. B. was out of town for work, and I think S. was taking a nap...she was only 4 or 5 weeks old at this point. I hung up the phone and called Brad on his cell phone. They were on a break, so he was able to tell his boss right away what was going on, and she immediately arranged a flight home for him. I don't remember what B. and I said to each other in that phone call. At the time I didn't know anything about PWS - other than the reality we'd already been living, which was pretty frustrating and frightening. Our experience with our sweet S. to that point had been so unlike any prior experiences with K. when she was a baby, that honestly I wasn't sure S. was going to make it.

I don't necessarily like reliving those times, but at the same time it's somehow necessary to do that every now and then. Those days sucked. S. was a beautiful baby and the story of her arrival in our kitchen was/is certainly a good one....but we were so scared for her. Honestly I felt so guilty, somehow. The whole experience was so surreal, so unexpected, that it just felt like I had done something wrong, somehow. I mean, I knew that wasn't true - I don't smoke, drink, do drugs, or travel to foreign countries where I could have picked up some strange virus or whatever....but, at the time, I didn't know what to think. And even after we got the diagnosis, it's not like our mood lifted, because the prognosis for children w/PWS can be pretty hard to take in some respects. I can say now, 5 years down this road, that S. has done amazingly well, and she has not had to deal with some of the complications that are "the norm" for many children w/PWS. But, it could so easily have turned out differently, AND we have no idea what the future holds for her. Yes, she is probably "moderately high-functioning", but what does that mean, really? I don't know if that indicates college for her....a job? independent living at some point? I just don't know.

It's so hard to predict those things for a child who potentially, if left unsupervised, just might do serious harm to herself simply by eating too much food. Life in a college dorm, for example, does not encourage good eating habits!! Is she going to be frustrated, someday, by the possible fact that for her own good she really shouldn't live out on her own? She has such an interest in medical things - probably from being around doctors so much - but down the road, will she be angry that because of the learning limitations inherent in the PWS diagnosis, she might not realistically pursue that interest into a career? S. also loves babies, and loves to play "mom" and put her little baby doll into the little carrier, go off the store...I see her role-play like this, and of course the thought runs through my mind that someday I may have to tell her she is not able to have children of her own. Will she understand this, will it break her heart? Of course, maybe she will be able to go to college with no problem. Who knows, maybe by then there will be a drug that will quiet the hyperphagia enough that she would be able to concentrate well enough in a college setting. Maybe she will progress enough that caring for a child will be within her capabilities. Maybe she will be able to get many unknowns. So stinkin' many.


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