Shannon already did an awesome job giving a recap of this over at her blog, so I’m not going to re-write what she’s already succinctly done.
I had been calling the genetics office looking for Alex’s results since they were running a bit overdue, but somehow Shannon got the call. She got the news and then called me. I missed her first call because I was doing something with the kids and couldn’t get to the phone in time, but then I also heard my Google Chat starting to blow up. Right then, I felt pretty confident that it was Shannon telling me she had heard from the genetics department. A rush of adrenaline hit me almost immediately.
I called Shannon back and she told me the news – it isn’t Connexin 26. My heart sank. As Shannon mentioned in her blog, Connexin 26 doesn’t come with any other catches other than deafness, so this felt like a “good” option was suddenly taken off of the table, even though I was assuming it wasn’t Connexin 26 anyhow.
We’ll be doing another round of genetic testing, which means another blood draw and more fearful, adrenaline-filled moments. I’m pretty scared of what can come out of that. Shannon already mentioned the biggy, which is Usher Syndrome. I’ve done a lot of research into that particular disorder and, as with deafness, there are at least two very good things coming down the road for blindness. One is that there are very promising looking gene therapies (plural!) that are actually in human testing right now that would halt the progressive blindness. A few of them are corrective as well. Beside those fixes, if all else fails, a new bionic eye which is coming to the US very soon.
Regardless of all of that, I definitely hit a slump when Shannon told me the news, but she also managed to pick me right back up that night when we talked about it a bit more. She and I both feel that it isn’t Usher, and even if it is, the good news is that it usually doesn’t start to take vision until roughly ten years of age, and that age range can be pushed back by a few more years if a lot of vitamin A is taken. That gives about fifteen years for the gene therapy or something better to come along. The prospect is still TERRIFYING, of course, but knowing that it isn’t necessarily a foregone conclusion that our poor boy would be both deaf AND blind would at least give some real hope. I hope we never have to worry about anything like that, but I was happy to see that sort of help on the way for those who do.
I moved slightly off-topic there – Shannon picked me up by saying something that resonated, and that’s that she feels that the antibiotic that was given to Alex during his time at the NICU was what took his hearing. It’s a bittersweet thing to consider, if true, especially since Alex didn’t have an infection at the time. I find myself almost hoping that that’s the cause of it because the “only” other thing that sometimes accompanies the hearing loss is vestibular issues, but as Shannon pointed out, Alex seems to be developing physically at a good rate. I feel that he doesn’t have any major issues there, but that could also be wishful thinking given how young he is. I could certainly see how it would be difficult to make that determination until Alex hits, say, a year, where balance should be mastered.
Under that scenario, I’ve also thought about how it would be ironic that technology basically took Alex’s hearing, but I’m depending on it to bring it back to him.
Before we can get more genetic testing done, the genetics office we went to first has to get approval from our health insurance to make sure they’ll cover it. That’s supposed to take a week or two. After that, if approved, we’ll get Alex’s blood taken again and wait with racing hearts to get those results back (Usher will be tested). I have a gut feeling that those will also come back negative and we’ll never really know what caused Alex’s hearing loss, but since Alex was initially diagnosed, I no longer trust my gut which said that there was nothing wrong with him.
Thinking about all of this and feeling my anxiety level going up reminds me of when we were in one of our audiologists’ offices a few months ago and a conversation was had about how most parents don’t get genetic testing. I can sort of relate to why they wouldn’t. When Shannon first told me that they wanted to do a second round of testing, I was very tempted to say that we should just stop torturing ourselves and deal with whatever may come as it arrives. She shook me out of it immediately by saying the obvious – we want to make sure that we get as far in front of whatever could potentially be coming as possible. Dead-on correct, of course, and I felt guilty afterward for even considering we should stop just so that I would maybe have a little less anxiety. I would have come around on my own, but I guess I’m writing all of this out to say that I couldn’t really relate to the parents who opted to not get genetic testing done previously, but I understand a little bit more now.
This whole process is terrifying, but I think it all falls in line with how I think and hope the next five years are going to go; the first year is going to be the hardest, and though the next few won’t be a cakewalk either, they’ll be better. I feel like we’ve already dealt with so much, from the diagnosis to the emotions afterward to the research to the doctors to the early interventionists… and we haven’t even hit the MRI yet, which will give us a good indication of whether or not Alex is a candidate for CIs and how GOOD of a candidate he might be. Never mind the surgery that’s looming!
Regardless – it’s a one step at a time thing, and I’m lucky as hell to be in this with a woman of my wife’s caliber. Every day is its own victory, and our little boy continues to give us signs that he’s going to be fine, from the smiles and laughs he gives us (especially Shannon!) to his progress with his physical development. The kid’s already a warrior, like his mom.
As always, more to come.