Tuesday, October 9, 2007

Here's J- our oldest son

His story is easier to tell, because he has been the most straight-forward when it comes to hearing loss (that's why I'm doing his story now- I only have a few minutes). After the two girls, we were told he really 'should' be fine. In fact, our ENT was still telling us that LVAS typically is not hereditary- if he could see us now! The kids have LVAS/Pendred, which is a recessive gene- 25% chance per child. We were already 2 for 2, so we figured we were 'owed' a child who could hear (but to be honest, we really kind of expected him to have the same thing). I remember when they took him away for his hearing screening, and we described a bit of our history, the Audiologist said she'd take an extra long time, and test him really thoroughly, well as thoroughly as they can w/ fluid filled ears, etc. They brought him back and he did not pass his hearing test on his right ear (which is the same as Emily, although you wouldn't know that since I haven't shared her story yet-LOL).

We took him back for his follow-up a few weeks later, and they confirmed that he did look like he had some moderate hearing loss in one ear, and asked if we had an Audiologist (HA HA). The man doing the screening also said he thought he could "make" J pass the OAE- I'm still trying to figure out how it helps us, for the man to fudge the test, thereby giving J a passing OAE.

At this point we scheduled his ABR and an MRI so we could look for the LVAS. Interestingly enough, when they did the MRI, it did not show LVAS. I didn't buy it though (and he was really quite young). There was no other explanation for the hearing loss, and since we already had two girls w/ LVAS it only made sense for it to be the same thing. We waited until he was a year, and did another MRI, which showed the LVAS, and we also found that by 12 months he now had bilateral hearing loss (again, by this point, he was our third, and it was SO not a big deal). We also qualified for a genetic testing study, looking for Connexin 24. The Geneticist we were working with, suspected it was actually Pendred Syndrome and mentioned that a nearby University was doing the Pendred study. He said after they had their results, we could then have our samples sent over to the other school for the study. Unfortunately the new privacy rules meant this never happened- so, we still technically speaking need to confirm that it is in fact Pendred, but all of our providers agree this is the most likely cause (w/ the LVAS, and progressive loss).

The only tricky thing we had going on w/ J was that he refused to wear his Hearing aids. We didn't have that problem with the girls, they liked them right off the bat, but they had more significant hearing loss. J was only mild to moderate bilaterally, so he really didn't 'need' them to hear basic speech. We really struggled with this. Thankfully by his 3rd birthday, when he started school, he would at least wear them for school. I know, I know.......our Audiologist would have been mad at us :) About 8 months ago, we noticed that he started cranking up the volume on everything, and would wear his hearing aids all the time. Not too subtle, huh? Sure enough, after fourish years of stable hearing, he has started progressing- Big bummer. But, at least we know if he gets bad enough, there are implants waiting for him. He is now almost five, and he'll go back in a month or so. We take the kids every 3 months or so for adjustments to hearing aids (although now that E has her bilateral implants, it's actually much easier audiologically speaking- fewer appointments, that is. )

The good news w/ J is that he really has almost no speech delay, and is almost ahead of his peers, thanks to early intervention- We are enjoying that!!! Let's hope it continues. He's also very social and a bit of a mischief maker but that's what makes him J. Well, this has gotten LONG, and it was supposed to be the easy story. I promise my next posts will be on a lighter note. Have a great day!


Jennifer said...

Wow...They ALL have LVAS/Pendered's?? We thought I might have that, since there was no other clear explanation for my sudden early hearing loss, but when I was going through CI qualifications they said that I didn't have it. I did a lot of research though, so I know how rare it is...it's kind of incredible that all four of them have it!!!
Your son is so cute...ALL of your kids are just gorgeous!
I am enjoying hearing their stories! Thank you for sharing!

Karen said...

Hi from another mom with three kids with hearing loss! :)