We got the results from Jonah's genetic testing today. They didn't really tell us much we didn't already know. He has two mutated genes, which makes sense since JEB is a recessive disorder. Both of his mutations mess up his production of Collagen XVII. He produces some, but not enough. We have definitely ruled out Dystrophic, which is good news. The expert at the lab said he's most likely non-Herlitz (which we already thought), and will have hair, nail, and teeth issues in addition to skin (which he already does). He only has three nails out of twenty, his teeth are too small and are weak, and his hair is thin and thinning more. One of his mutations has been seen in one other person. The other has never been seen before. JEB is POINT five in a million. Jonah's mutations make him, well, just one. That's why the results don't tell us much. He is a more severe non-Herlitz, meaning that he probably won't grow out of it and it will definitely affect more than just his hands and feet (obviously). So what does it all mean? I really don't know. I know that I'm happy it's not dystrophic and I'm happy to get more confirmation that he's non-Herlitz (although it's a spectrum disorder and they don't really classify it that way anymore - Herlitz (lethal), non-Herlitz (non-lethal)). The truth is, regardless of what he's classified, he could get a deadly infection at any time. In that regard, classification means nothing. On the other hand, his trachea, so far, has been unaffected, and he's gaining weight well. These are both very good signs. There is a deep down part of me that was hoping they would say, "We've found his mutations. They're the same as this person and this person and guess what? They're grown, living healthy lives and only have to spot wrap." I know it was unrealistic but I really wanted that. And maybe he will toughen as he grows. Maybe he won't have to be wrapped forever. We really just don't know. So today's been a day of the "what if's" for me. But I'm just trying to refocus and concentrate on today. Because today is all I know I have for sure. And he's here TODAY.
Daddy, Is that you??? Hold on, I'll get her.
Daddy's on the phone.
And still (and forevermore?) in love with his ball popper.
Jonah's gtube button change went okay today. He cried and screamed (heaving sobs) the entire time. But he didn't throw up, and as far as I know, there was no skin damage. Matt held his arms, the surgeon held his legs, and I changed out the button. I think it will go a lot better here at home. We have to change it out again in about four months, and we'll do it at home from now on. Next time, we'll snag a third person for dressing change and take care of it while he's already unwrapped. I think with video diversion and being on his own table, he won't react as much. Thank you so much for your prayers. He got really upset but recovered quickly. That's it for me. It's been a long day, and I'm spent. Goodnight.