Information comes trickling in…

Ugh. I hate that we’re back to Diagnosis Stage. I hate the big unknowns, the big Things being thrown around. The New Information and Changing Prognosis With Every Bit Of Information. I remember my pregnancy with Teddy, and it wasn’t a good time. Every visit, more information. Every visit, bad information. Every visit, something else. Oh! He might not make it! Oh! He’s going to be fine! Oh! He’ll have to be born at 32 weeks! Oh! He can stay in until 38 weeks! And then he was born and he was fine! no, wait! Not fine! Oh, wait! Probably mostly fine! Nope, Changed our minds, Definitely Far From Fine. But he might turn out fine. No, he’s not going to turn out fine!  yeah. I remember that. I can still go back to that place in my head and it was a bad, bad place.

He’s HERE now and I think that makes pretty much everything easier. There’s no guessing at this point – we can take definitive steps to determine exactly what we are or aren’t dealing with and THAT is easier.

But right now, this Results Trickling In From Genetics is kind of hard.

So they found something, but it wasn’t something they were expecting and it wasn’t what they were looking for. (I mean, this something is unrelated to the kidneys or the liver, it’s just an extra something.)

He *might* have an MCAD Deficiency. I’ll let you Google that, but it means he would have trouble accessing his medium chain fatty acids. This would mean he could fall into trouble quickly during periods of fasting. Working in his favor – between the feeding pump and his need to be on IV fluids any time he’s NPO or dehydrated, he’s never actually had a period of truly fasting.

So the next step here is a skin punch test that they’ll then ship up to Mayo and it’ll take forever to come back. It doesn’t sound all that terrible compared to, you know, kidneys that don’t work. So we’ll wait and see what the test says. The skin punch biopsy sounds terrible. Not looking forward to that.

And we do NOT have to wait for results from the biopsy to make a decision on transplant, so that’s SUPER GOOD.

The big bad scary part of today’s phone call with Genetics was that she threw out the names of the next few syndromes they were looking at, and said she didn’t know much about them. Hunter Syndrome and Hurler Syndrome. I wasn’t going to, but I of course Googled them and IMMEDIATELY wished I hadn’t. I want to hop in the DeLorian and go back to before she said that and have Teddy throw a big temper tantrum and make it so I couldn’t hear her when she said that. I’ll let you Google those, too, if you want. Let’s just leave it at – death before age 10.

I don’t honestly think he has either of these. They seem to have physical manifestations that he doesn’t have, but they also seem to be normal appearing and of normal health until symptoms start after age 1 or 2, so that little nugget of information is going to haunt my dreams for a while until we find out.

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One thought on “Information comes trickling in…

  1. i am so so so sorry Sarah. HUGS. This is just horrible and painful to all of us — i can’t dream of what it is like for you guys. you have our prays and our support

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