We've known from the day William was born there was something wrong. He was whisked straight to the NICU and spent the first month of his life there. The first night they told us that he was disproportionate. We had no idea what that meant and it took us almost 3 weeks to find out what that meant from the doctors. It's a sign of dwarfism. I know now that they didn't tell us what was going on because there are several forms of dwarfism that are lethal.
He stayed in the NICU for as long as he did because he couldn't quite muster the stamina to eat on his own. But even then he was a ladies man. He was grinning at the nurses at 12 hours old. If he had been there any longer we would have bought him a onesie that said "Hellooooo nurse!" He had a girl friend in the next crib over. They were born the same day at almost the same time. She was born 7 weeks premature, and was much sicker than he was. Whenever she cried his heart rate went up. It seemed that they had connection from before. Once she went home, he was out of there within a few days.
Once he was able to eat on his own they found he had apnea when he was eating and sleeping. So they sent us home with an apnea monitor. It was a very high pitched screaming device that went off over everything. I think we had two actual alerts and dozens of false alerts a day. We had that for 6 months. Even the cats were losing patches of hair by the end of it.
Our first appointment to figure out what was going on was in February. We went to the geneticists at UCLA. It happened that the day we went they were having a conference on dwarfism. So we met with several different doctors that day that all gave their opinions. It seemed that day that we were dealing with Achondroplasia or Hypochondroplasia. They are the most common forms of dwarfism. So we had the first blood test run. And with UCLA we had several after that. But no matter how we tried, Achondroplasia just wasn't fitting him. And so we were referred to the pediatric genetics department at Cedar's Sinai, because 1 - they didn't know why he was disproportionate and 2 - he wasn't growing at a normal rate.
Cedar's has been the biggest blessing I can imagine. The doctors we have there are some of the best in the world. Whenever I'm reading studies, our doctors names come up. It's been frustrating, though, because nothing has really been found out. We've ruled out all kinds of things. Kabooki Syndrome, Achondroplasia, and a whole bunch of other things that I can't pronounce. You would think that one blood test would be able to tell us what's wrong. But, from what I'm learning, it's more like a Sears Catalog. If you go to the housewares department to order a lamp, then you'll see lots of lamps. But you won't see a lawnmower. So these genetic tests are very specific in what they're looking for. Which means that we've run tons of tests, and come up with nothing, and there are still tons of tests that potentially could be run.
However, a couple of tests have had results that have given some results. We had an MRI that ruled out hydrocephalus, and a brain tumor. And gave us a view of his pituitary gland. We were happy to get negative results there. :) And we also met with a cardiologist that told us his heart was completely perfect. Another happy appointment. And we have done tests on his IGF levels. IGF's are proteins that bind together the natural growth hormones in each of our bodies. Will's IGF levels are very very low. This helps explain why he's not growing. However, we don't know WHY his IGF levels are low. Once we can finally get a diagnosis that should put all the whys to bed, or at least most of them.
But I feel like we're getting close. We've had both our dysmorphologist and our pediatric endocrinologist tell us they think it's Noonan's Syndrome. In the little research I've done, this seems a very real possibility. There are four genetic tests for Noonan's. On the first test 50% of Noonan's patients will manifest. The second one has 25% of patients manifest and then 15% and then 7%. However, some Noonan's patients just don't show up on the genetic tests. We will run the first genetic test at the end of this month.
The other thing that we've started is growth hormones. Because we know his IGF levels are low, he was a candidate for them. Lee and I have really gone back and forth on whether or not this is something we should do. Growth hormones mean an injection every day....at least until he's done with puberty, but potentially the rest of his life. They are also very expensive. It's been a difficult decision, but once we learned without them he wasn't even going to hit 5 feet, we knew we had to give him the best chance at a normal life we could and this was something we had to try.
We started the growth hormones about 3 weeks ago. We were approved through the insurance for a needle free version. It's a subcutaneous administration. Basically, it's a high powered stream that's shot through a very small hole through his pores.
It's been kind of hard to get the injections correct, but I think we're starting to get it figured out. And William is being a super good sport about it. He just holds still and says owie
And so, after two and a half years of stagnation, we are finally moving forward. It's moving really fast and is, some days overwhelming. But I'm happy to *hopefully* be close to an answer.
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