We loaded up the van and went to Gainseville yesterday. Destination: The University of Florida and one of the country’s experts on Angelman Syndrome.
The trip started in the pouring rain. As I lifted Daniel into his grandpa’s van, I caught a whiff of something. Then it was back into the wheelchair, and back inside for what would prove to be a fortunate bathroom break.
Thirty minutes into the trip, I realized I left his bag with his Pediasure, diapers, wipes, cups and bandanas sitting in the garage. Oops. Do we turn around? Do we wing it? We chose to keep going.
Daniel is a fussy eater. He prefers Pediasure from a straw, but eats lunch at school everyday. I’m always amazed that they check “ate 100% of meal”. But apparently he does. So, when we pulled into KFC I had strong words for my boy.
“You MUST eat now, because I didn’t bring any Pediasure, and your stomach will hurt if you don’t eat something. It’s just like a regular school day. You HAVE to eat. No water until you eat, either.” That last part didn’t thrill him at all, and he reached and reached for the water cup. Drinking is one of his favorite activities.
Mean mama prevailed (I guess I'm not quite as ineffective as I think). He ate his lunch, drank a little water, and we were off again.
Parking was fun. We went to the wrong garage and the wrong building. When we realized it, we had to move fast (in the rain) through three parking areas and into the right clinic. This involved my 76 year old father helping me lift the wheelchair with Daniel in it up four stairs (not four flights, mind you, just four stairs. Still.) We made it to the check-in desk five minutes ahead of time.
Dr. Williams came in wearing a mask since he’s battling a cold. I thanked him for not sharing his germs with us, and he proceeded to go through the list of tests that Daniel’s had done in his almost 13 years on earth (this was after we saw the nurse, followed by the nurse practitioner).
The doc left the room to confer with his NP, then came back with his pronouncements. “This is not Angelman Syndrome. He doesn’t have the Angelman gestalt. His main characteristics seem to be severe growth retardation and autistic behaviors. It's definitely genetic. Have you had the microarray analysis done? No? I’ll write a script for one and it may show some chromosomal deletions or duplications.” He talked some more genetics talk, and then we headed to the lab.
We found some milk for him to sip while we waited. The technician looked for a vein and tightened the tourniquet on his arm. Daniel suddenly grinned big. Is he enjoying this whole debacle more than me? Then he passed gas. Loudly. Forcefully. I guess that’s what he thought of the whole business.
3 comments:
Well, I suppose in a good sense: (1) you did survive the trip and (2) it's not Angelman's. I suppose the bad news is "what is it?" Overall, Daniel'd response was very appropriate to the situation and I hope everyone appreciated his loud sentiment. I have no doubt Adam would share a similar sentiment.
Yes, Phil, we did survive!! It was actually a good day, too. My parents are staying with me, so having them along is great even when it's just a doctor's visit. Daniel loves the grandparents!
I think finding a diagnosis is one of the most frustrating aspects of the special healthcare needs journey. Sophie is now nearly seventeen, and while I occasionally get twinges of wanting to know, I just don't think about it anymore. I wish you luck in finding some proper answers.
Post a Comment