Well, we had our appt. yesterday with Aiden's ENT. He didn't seem TOO concerned about the branchial cleft sinus, but said Aiden would need surgery to get it removed so it does not become infected. He said it's a fairly simple surgery, but with Aiden's age we'd probably spend one to two days at the hospital, depending on how deep the sinus is into his neck. The interesting part is that this MAY have to do with Aiden's hearing loss.
There is a syndrome, branchiootorenal syndrome (BOR), that has to do with the branchio cleft sinus (branchio), hearing loss (oto), and problems with the kidneys (renal). Dr. B says this is rare (I read 1 in 40,000), but with Aiden having two of the three, we need to check the kidneys too. He said what he has seen is the child being born with only one kidney or a malformed kidney, but that there USUALLY is no further problems associated with it (my dad was born with only one kidney, but never had any problems with it nor his ears). I started reading things on the Internet, but stopped after reading about an 8 year old little girl on a kidney transplant list who has BOR ... bless her heart! I can't get myself all worked up over something that may not be. I just can't. Not now.
So ... our next step with this is an MRI. Our ENT office is in the process of scheduling us a fun filled day (yeah right!) of appointments at Children's Medical Center in Dallas. Dr. B wants to do the MRI on Aiden's neck and at the same time, go ahead and do the MRI on his ears to see how his cochlea's look and verify candidacy for CIs. Even though I don't want to see my baby sedated, I'm glad we're getting two things done with one sedation, and I've been so anxious to verify candidacy! Plus, we'll get his ultrasound on his kidneys done, and bloodwork for Connexis 26 (which will tell us if his loss is non-syndromic).
Another day in the life of Aiden. I hate all that he has still to endure ... I just hate it. Yet I know he will be okay. I just have this peace about me ... praying definitely helps along with a positive "everything's going to be ok" attitude. It also helps having Ryan upstairs belting out Rolling Stones, Give Me Shelter, on Rockband! (huge smile!) If you ever need a chuckle, call me and I'll let you listen!
4 comments:
Our geneticist told us not to get on the internet looking at all the possiblities unless we wanted to worry ourselves to death. Gage was actually first diagnosed w/First and Second Brancial Arch Syndrome...similar to the one you named. He was later (last year) diagnosed w/Goldenhar Syndrome. All of these can have kidney issues, Gage does not. He has other stuff like missing permantent teeth, deformed ears, no tears...etc. Just go to all testings, get everything checked out, he'll be fine, I'm sure.
I would second the warning about looking up the possibilities on the internet. Nolan had mild frontal bossing and there was a concern about Hurler's Syndrome. I have never had so many sleepless nights! He doesn't test positive for anything so far (I was really bummed when his Connexin 26/30 test came back negative), but is hitting his milestones and seems otherwise healthy (and his head is slowly rounding out). We may never know, but I'm finally learning to stay away from over-researching.
Hopefully they will get the ultrasound scheduled soon so you can get one more test behind you!
My seventeen year old daughter has Branchio Oto Renal syndrome. There are now 3 genes they have found associated with this disorder, but about 50 % of suspected cases aren't showing up as positive for those 3 genes so there must be more. My only suggestion is to focus on the symptoms and not the label. My daughter has required back surgery, jaw surgery, kidney treatment, ear surgery, has extra teeth, bilateral microtia and atresia, and despite all this is a normal snotty seventeen year old girl who can speak Chinese, sings in the choir, plays the guitar, and probably hears better than I do when she is wearing her hearing aids.
It's nerve-wracking, isn't it? We still haven't gotten a confirmed diagnosis, but are 99% sure it's Pendred Syndrome in our case. I also did a ton of research on various syndromes linked to hearing loss- the internet just makes it too easy :)
Hang in there! You have such a great perspective on everything......
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