Genetics

A Little Relief

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I got the call yesterday; the extended genetics panel came back CLEAR. Alex doesn’t have Usher’s or any other scary genetic syndrome. It’s a somewhat bittersweet victory because Shannon and I both feel like it was the antibiotic (gentamicin) that took Alex’s hearing from him, but  for me, the sweet outweighs the bitter. I’ve been terrified that Alex’s deafness was just a symptom of something bigger and worse, and now that’s basically gone.  Thank god.

The positive spin I’m putting on the antibiotic factor is this; if medicine took his hearing, it’s going to have to give it back to him as time goes on. I feel like because it appears that all Alex has to deal with is deafness and because of all of the developments happening on that front, he’s going to have the opportunity to take back what was taken from him.

Alex was supposed to be activated today if his surgery had gone through last month. To say that it’s a bummer that it didn’t happen is an understatement, but I’m very, very grateful for the clear genetics panel, so that helps to offset the frustration just a little.

That’s about all that’s going on, but I’m very, very happy to be writing this sort of update instead of what could have been the alternative.

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Mission 6/6: Part 3

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I’ve gotta say, I’m actually relatively happy with how things have been moving up to this point.

Yesterday I called up the ENT to see if they had gotten a response back from BCBS in the form of a denied pre-authorization. Shannon called BCBS directly a few hours later. It turns out that it was a good thing that I had called, because even though they had sent everything in, BCBS wasn’t going to process it because of the initial “stop” that the ENT’s office put on the pre-authorization when they were incorrectly told that any failed appeal would tack an entire year onto Alex getting his implants.  So when the ENT called the insurance company to get a status, they were able to hammer that out and make sure it WAS being processed.  We’ve been told that will take something to the tune of 72 hours to turn around, so basically this Thursday. Additionally, we were told that the ENT actually sent in material explaining why we wanted to go in early.

Good things taken from that:

  1. It validates our strategy of calling over and over.
  2. The ENT didn’t just tell us “We haven’t gotten a response yet,” they followed up with BCBS and actually got a status and fixed the issue themselves rather than waiting for us.
  3. The ENT is ALREADY sending in the information on why we’re trying to get Alex implanted early instead of just waiting for the denial.

I’m probably saying this too early, but I’ve been impressed and grateful for the proactivity of our little team. Our audiologist sent us her drafted recommendation to be sent in for any appeal process after she integrated the verbage “medical necessity” at our request, and even asked if we wanted to make any changes or tweaks.

These might all seem like small kindnesses, but they really do add up, and in the healthcare industry where you’re asking for someone to go the extra mile for you, it’s nothing short of great service.

Shannon and I have a very small hope that the pre-authorization will actually be accepted based off of what the ENT sent in as well as just looking at the calls that we’ve made in the past week. The logic would be that given what we’ve already done, they’ve gotta know that we’re going to appeal vigorously, so maybe it’s worth accepting it now and losing whatever administrative costs and headaches would be associated with the appeals process? It’s a very small hope, because at the end of the day, we’re talking about insurance. They’re going to put up whatever walls they can to see if we just lose interest, but maybe they’ll weigh that against the appeals process we WILL put them through.

On the ear tube front, Alex has an appointment for next week. It’s just an office visit, so no procedure will actually take place, but the good news is that we’d still have all of May to get the procedure done. I asked the office person I was speaking with if she could make note that we need to have the procedure done prior to June, and she said that that note was already on our case, but she’d put it in again. Obviously when we go in, we’ll make note of that yet again and be as nice about it as possible.

I think that’s about it for now. Probably more to come on Friday.

In other news, Alex has made some pretty good strides lately in the physical development arena. He’s sitting up on his own for longer and longer periods of time, and he’s now rolling from back to belly. We’re hoping that means crawling soon-ish. Alex has a physical therapy appointment tomorrow. We’re hoping to ask the therapist if she might be able to write something up about the benefits of to Alex’s physical development if he has a sense of hearing earlier than later. I also want to ask her about Alex’s balance again and make sure that he’s doing well on that front. I did more googling about Usher Syndrome (where you’re born deaf or hard of hearing and slowly go blind) and balance issues are often associated with it early on. Alex is doing DECENTLY sitting up and once did it on his own for a good nine minutes, but I’d like that reassurance if we can get it that his balance is in good-ish shape. We’ll get confirmation once his extended genetic results roll in, but we still have weeks to go for that.

Now that I think of it, we also have an appointment with our teacher of the deaf tomorrow as well – I’ll probably ask her if there’s anything she can write up, though I’m not sure what that would really look like. Won’t hurt to try.

That’s a wrap for now.

The Oral-Deaf Dinner and other General Updates

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Finally getting around to this.

The day we had our dinner was the same day that we found out that Alex was going to be eligible for CIs. That was a pretty huge boost, so we walked in feeling pretty good.

The event itself was held in the basement of the building, so we got a quick look at some of the classrooms / playrooms that were setup.  Dinner was catered by a popular local restaurant. We sat down front and center and met with two other couples with hard of hearing kids. I can’t think of any remarkable conversations we had there, except that one of the couples knew in advance that it was going to be a near-certainty that their child would have hearing loss due to genetics (the mother wore hearing aids). That didn’t stop them, which is no surprise, but I thought that was sort of an interesting dynamic. Also nice – we got some good face time in with the administrator of the program, who is the same sweet woman who was kind enough to physically meet with us and tell us about the oral deaf school months back. We also saw our teacher of the deaf, speech therapist, and audiologist. Definitely feel blessed to have that kind of supporting cast who all work together.

The actual discussion was setup as a Q and A with four kids sitting at the head table.  One of the kids got a little shy and jetted out of the table, leaving three kids; one unilateral CI boy (I want to say he was about 9) and two twin girls (I think 11 or 12, but I’m sure my wife will correct me on this). One of the girls used two hearing aids, one used one hearing aid and a cochlear implant. I think they all started off with a quick introduction. Once they got to the boy with the CI, I definitely perked up, because this would be the first time we’d hear speech from a CI graduate of our boy’s future school.

And it was perfect. No affect detectable.

Now, his little boy did just give off a very quick and smart-alec remark, but it was enough to get a sense for how good his speech was. It was pretty cool to hear. He only had one implant, too! The downside to his smart-alec remark is that the crowd gave him a pretty big laugh, which guaranteed that every other answer he gave from there on out would be a one or two word deal looking for the same response, but that was sort of cool in itself. He’s a little boy, acting like a little boy.

The girls were pretty amazing. They had speech affects, but I didn’t really notice after two or three sentences. Great self-advocating, they explained that they were both great students, the works. Two very inspirational young ladies that definitely showed off a maturity beyond their age.

Throughout the talk I was amazed that these three kids were functionally deaf, yet here they were, hearing all of our questions without a hitch, talking about their experiences going to mainstream schools, etc. It all seemed amazing to me, and made me feel even more hopeful for Alex given that he’s going to go through the same program, but with another ten years worth of experience and another ten years worth of technology advances at his disposal.

I can’t think of too many answers that were given that really stuck out as interesting, but that’s probably because I’d already done lots of research so I was able to anticipate a lot of the answers. One of the topics that stuck for about 15 minutes was FM systems (an FM system is basically a wireless microphone that you give to a teacher / speaker / whatever that sends their voice directly into “listening” cochlear implants or hearing aids). It was a good conversation about how it’s important to keep them on and the struggles to maintain them, but it got a little long-winded given that most of the audience members wouldn’t have to deal with them for at least another five years or so. Sports was another conversation that went on for a bit and it went into some of the challenges CI users have there (helmets, waterproofing, hearing in loud environments, etc), but my takeaway was that it’s all absolutely doable with a little extra work. No problem, we’ll do extra work. The kids talked a bit about how they’d get pulled out of their regular classes occasionally for special speech therapy and things of that nature. That was a SLIGHT bummer to hear about because it’s another thing that’s going to broadcast to Alex’s peers that he’s different, but again… we’ll deal with it, just like these kids and their parents did and do.

Overall, I didn’t see anything really too surprising, but to see the kids in person was pretty inspirational and I liked seeing how the teachers interacted with the kids. You could tell that they had formed some pretty deep bonds.

I think that about covers it.

Nothing too new going on at the moment outside of that. I have to call our ENT and see what’s what in terms of making sure that our insurance is lined up and what they’ll cover – I just read on our Facebook group that many insurance companies will cover TWO speech processors per ear so that there’s always a backup, that’d be nice! We always have a close eye on Alex’s PT. He still likes to bob around, but as he continues to demonstrate that he can hold himself up in a sitting position firmly, it makes the bobbing look more like him saying “I don’t want to be held like this right now” vs. a physical issue. Regardless, it’s something we want to continue to stay on top of.

The genetic testing results still make me nervous when I think about them, even though we apparently won’t have those in hand for another month or two. Just really hoping that his deafness is all we have to deal with and worry about.

Past that, life is actually sort of normal. Alex still wears his hearing aids all the time even though we keep them off most of the time because of the incessant whistling, but he does great in NOT swatting them off. Hopefully that trend continues on and we get lucky enough that he doesn’t hate his CIs, because once he has those, they are staying the hell on. We’re going to take advantage of every minute of hearing time that we can early on and get this kid going.

Something we’re starting to investigate now is getting an FM system that we can use with Alex that we would own – most parents don’t have one because they’re typically only used at schools, but I’d love to have it for louder environments, long car rides, that sort of thing.

We still have early intervention appointments frequently, but they’re starting to feel routine and just slight pains in the ass rather than an invasion of our lives.

We’re still constantly concerned about Alex and his future, but it feels like things are starting to normalize just a little bit.

Busy Week Coming…

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It’s been a little while since I’ve written anything, so I figured I’d put a few updates out.

As the title says, we’ve got a lot of appointments coming up. Tomorrow at 3:15, I’m taking Alex to the audiologist. She’ll probably just give Alex new ear molds (his current ones are laughably too small) and MAYBE will do a sound booth test to see if he’s getting any sort of benefit from them. Zero hopes there, but that’s alright. Almost immediately after that meeting I’m going to have to run home so I can get him home in time for his physical therapy meeting. This one is kind of a big deal. We had a checkup appointment with Alex’s pediatrician, and when asked, he noted that Alex was a little bit behind physically. He didn’t think it was much, and he grounded us by making the statement that only 50% of kids are ahead of the curve, so it’s nothing to really be terrified about. Alex’s physical development is definitely something we want to make sure he stays on top of, though. Even though I don’t really think he has something like Cerebral Palsy, it’s still something I’m scared of. Alex still likes to fling his torso back sometimes, and we can’t tell for certain if that’s just a trick that he’s learned or if it’s reflux or if it’s something else. His neck control still isn’t perfect, but it’s been steadily improving. He can grab things with both hands pretty easily. He can stand up with support (i.e., his legs stiffen as they should). He hasn’t completely mastered tummy time yet, but I blame myself for that quite a bit since I basically tried to skip over that and put him right into sitting-up time (which he’s getting increasingly better at!).

Regardless of the things that he’s doing well, it’s tough not to fixate and worry on the stuff he isn’t, so we’re really looking forward to this next PT appointment so we can ask some pointed questions. We get that he’s behind on some stuff, but should we really be worried? Have you seen CP babies and did they look like this? What about other physical issues? The PT side of things is definitely something that’s weighing heavy, especially with Shannon who’s literally losing sleep over it, so we’re really hoping to hear some reassuring things tomorrow and keep plugging away.

Thursday morning we’re meeting with Alex’s teacher of the deaf. Not expecting anything crazy there, and I can’t really think of what we’ll be discussing. Nevertheless, we’re both fans of her, so I’m looking forward to talking with her and asking questions if anything interesting comes up. I’m somewhat dreading Friday. Around lunchtime, I’ll be taking Alex to get another blood draw for his next genetics test. We got the formalized results back, and they just tested for a single gene. The next round is going to be testing for 20-something different things. I have a feeling they’ll come back negative as well, but we’ll see. We won’t get those results back until after June, when Alex will have (hopefully) been implanted. He was an absolute champ at his last blood draw – no crying or anything, and he had a lot of swooning Quest employees “ooh”ing and “awh”ing over him. I hope he’s as awesome on Friday as he was last time around, but I won’t blame the little guy if he puts up a pout.

Monday is Alex’s MRI, which is the really scary one. The results of this test will determine if Alex is eligible for CIs and might give an indicator as to how compatible his anatomy is with them. It’s apparently very rare for patients to not be compatible, and when they are, a big reason for that is a missing auditory nerve. Alex’s can’t be missing because he can still hear very loud noises. It’s all of SOME comfort, but once you “win” the lottery once, optimistic chances don’t give me as much comfort as they used to.

For the MRI, Alex will require some form of sedation to make sure he stays still for the machine. It will most likely be administered by gas, and I remember reading somewhere that it could just be a very light form of sedation (like a sleeping aid). It sucks regardless. On top of that, Alex isn’t supposed to eat anything from midnight until when his MRI begins at 10:45. Seriously? Our six month old is going to be starving. Not pissed, starving. That’s really not going to help to tone down the stress of the whole event. It’s going to suck, but we’re just going to take it one minute at a time, get it done, and hope that we get back the results that we’re hoping for a few days after.

A lot happening. My hope at this point is that he has a quality physical therapy session that puts our minds at ease and that his MRI results come back quickly and that they’re encouraging. If those two things happen, it should be relatively smooth sailing until we come up on the surgery and genetic testing results. It would be nice if some of the stress dropped for a while, especially with spring and the promise of warmer days around the corner. Seems sort of symbolic when I think about it; it’s been a rough fall / winter, and we’re ready for some good news and a break.

First Round of Genetics Results Are In

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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.

First Genetics Appointment

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First post in quite a while – it was a busy holiday. I’ll probably tackle some of my  thoughts / feelings during that period at some point soon, but we just got back from the genetics appointment so I thought I’d write about that now while it’s fresh.

The first thing that comes to mind is a blurb from our last audiology meeting that I don’t think I wrote out here. We were speaking with the audiologist and the director of the oral school and getting them caught up with what other people we had talked to and where Alex was with regard to all of his other appointments. When we told them that one of the next things coming up was a genetic test, they were both somewhat surprised – apparently it’s pretty rare that their kids’ parents have that testing done, which in turn surprised me. I certainly understand the whole “ignorance is bliss” approach, but don’t you still do it so that you can get in front of anything else that might be coming, or even better, that you could get some verification that nothing else WOULD be coming?

Anyhow – the director cited a pretty wild figure, something to the tune that she only knows of three or four kids who went through her program who had the testing done, so they’ll be interested to hear how the experience goes for us. We’ll certainly share that information with them.

The appointment itself was pretty standard stuff. Nurse comes and gets us, takes Alex’s height, weight, and head measurements. Another person (I’m not sure what her title was) then came in and asked us to reiterate what was going on with Alex at a high level to make sure that it jived with the notes that she already had. Shannon did so. She then went through the following questions for both Shannon and I:

  • How old are you?
  • Do you have any medical concerns?
  • Do you have siblings? Do they have any medical concerns? What’s their age?
  • Do you have living parents? Do they have any medical concerns? What’s their age?

Obviously she was looking to see if there was an obvious genetic history to trace Alex’s issue to. She went over dominant and recessive genes quickly and explained to us that there could be multiple steps in the analysis. The first thing they want to look for is Connexin 26. This gene accounts for half of all cases of genetic deafness. The “good” thing about this gene is that deafness is basically the only issue associated with it, so if we happen to fall into that category, we’ll get some verification that Alex’s deafness isn’t symptomatic of something larger.

Our next step is to have Alex get a blood draw from Quest Diagnostics. From there, a lab will test specifically for Connexin 26, and we’ll go from there. If the test comes back negative, another test will be done to look for other common genetic issues that have deafness as a symptom. It’s still quite possible that Alex’s deafness isn’t genetic, and if that’s the case, we’ll just get a bunch of negative tests.

A doctor was supposed to see us next, but it turned out that she had gotten caught up in the brutal weather we’ve had today in Buffalo and wouldn’t be in until later. That was somewhat of a downer since we were told that a lot of her training involves being able to visually detect issues, and it would’ve been nice to hear that he didn’t have anything visible going on. That said, Shannon and I have both stared at Alex plenty and haven’t really seen anything that would raise any flags, so we didn’t walk out of the office with our heads low.

I had to tell Shannon while we were waiting that I hated that we had to be doing any of this. Even though we’re busy and we’re ready to get to work and we know that the outlook could really be positive, just having to make Alex (and in this morning’s case, Taylor) go to these was a little sad, even though they both didn’t seem to mind one bit.

Next steps: Get Alex’s blood drawn, wait a few weeks for results to come back (they are ONLY testing for Connexin 26), and draw a plan of attack based on those results. We were told that we probably won’t have to come back into the office any time soon even if more testing is ordered, which is nice. Anything that helps to keep the appointments to a sane level is good.

Anyhow, a pretty straightforward appointment, but I thought I’d write it all out for anyone who’s interested in what one of these looks like.