thecainfoundation

I'm new to this forum. I found out several years ago that I have BOR Syndrome. My father also has it and so does my three month old son, Elliot. We all have a hearing loss, ear pits, and branchael cleft cyct(s). None of us have kidney problems.

My father and I have profound/severe hearing losses - mostly in the low frequencies. Elliot's hearing loss is unclear. We've had three ABR's at three different places and ended up with four results:

1. Mild loss in low frequencies
2. Normal low frequency hearing with severe high frequency loss
3. "No response" to at 500 Hz or 4000 Hz down to 90 Db (then they called us back the next day to say they were mistaken and it looked like a mild loss but she didn't test the high frequencies in one ear!!).

Here's his MRI result:

"The internal auditory canals are foreshortened and ectatic. There is cochlear dysplasia bilaterally with failure of normal formation of the apical turns of the cochlea. The bassal turns are formed. The vestibules are somewhat ectatic and lobulated in configuration. The ____ semicircular canals are normally formed as are the superior semicircular canals. both cochlearnervs are hypoplastic, the facial nervs are normally formed. The inferior ans superior vestibular nerves are small. There is normal Hyperintense signal within the membranos labyrinth.".

Of course this doesn't mean much to me. The doctor explained that Elliot's cochleas don't do the full 2.5 turnes and are bulbous at the end. He expects Elliot's hearing loss to be progressive over time (but may happen slowly). That's about all I know. I'm quite frustrated by not being able to get consistant ABR's and move forward with hearing aids. It's unclear if Elliot's hearing is fluctuating or if the ABR's are just not being performed correctly.

Does anyone else have a child with BOR whose hearing loss is due to malformed cochleas?

Thanks,

Dannah

Welcome to forum. My son also has BOR but I do not. His CT resutls for the cochlear were similair to yours. I have only had his hearing tests done at one place. I find he is more familiar with the setting and performs better Now that he is older, he has a big boy test and results seems to be more consistant. He did have a ABR the last time he was having ear surgery too.
My son doesn't have any kidney problems now but will be followed over time.
GOod luck

Hi! Thanks for responding to my post.

What kind of hearing loss does your son have? How old is he? Has his hearing changed over time?

We just did another ABR today and it showed a very mild (almost normal) loss. We really trust the results of this ABR as well as the ABR that showed a severe loss. This audiologist looked over all the curves and totally agreed with the way they were marked. It seems like our baby has wildly fluctuating hearing. I have no idea why since he does not have an EVA. I am still waiting to talk with the doctor to see if he has any theories.

Dannah

My son has mod loss in left ear and mild loss in right ear. He is turning 3 on Friday!!!
He hearing has gotten progressively worse since his first ABR at 3mos old. He had a CT scan done when he was 1.5 and it showed the abdnormal cochlear. At that time, they said for us to expect up to full loss by adult hood. His cochlear will not sustain hearing with growth.
The Audiologists do not recommend aides for him as long as he has one stong ear.
Funny about what you said about your pregnancy though. I actually lost weight during my pregnancy. And he has always been a terrible eater. My son also passed his newborn hearing test also. I felt I wanted to have the genetic testing done to plan for his future. I feel better knowing what the possiblities are. There are so much that could happen. But at least planning for medical and educational needs are a priority.

Have a good day
Pam

Hi Pam,

I would love for you to add your details to our Research Project. The more info we get the better I can document all this new data on BOR Syndrome.

Hope to chat soon.

Fiona Cain