Nolan’s temporal bone CT scan came back as totally normal, which is really good news. This means that his cochlea (the inner ear hearing organ) is normal, his vestibular aqueducts are normal (if these were abnormal, he would have a progressive hearing loss), and all other osseous (bony) portions of his inner and middle ear are normal. If his hearing loss ever does progress, this means that he would be a cochlear implant candidate.
I also got the genetics report in the mail today (I had already written that those tests came out as normal). The genetics department wrote into the letter that they observed no abnormalities in Nolan suggestive of a syndrome, and that while these three tests came back as negative, it does not mean that Nolan’s hearing loss isn’t genetic. The empiric data show that we have a 18-25% risk of having another deaf/hard of hearing child (if we were to have more children) and Nolan has an empirical 10% chance of having a deaf or hard of hearing child. Matthew’s chance would be far less than this (the same as the normal population), assuming a recessive gene is at play. These are empirical values, however, and not actual risk numbers (they’re just based off the averages from other kids with unknown causes of deafness).
They don’t feel that Nolan’s deafness was caused by environmental factors or illness.
When talking to the ENT, she said she was no longer concerned with his head shape, since it appears to be rounding out and the geneticist was unconcerned. No additional mention was made of the midface hypoplasia, either in the geneticist’s report or by the ENT. They were supposed to do a head CT scan, but I don’t think they did this. I’ll ask again tomorrow with the ENT at Nolan’s ear tube surgery to see if they did the head CT in addition to the temporal bone CT. So far, though, his head appears to be normalizing and doesn’t appear to be causing any problems.
Dr. Brodsky (the ENT) said she would present his CT scan before her radiology rounds tomorrow to discuss the next step. She has not seen the actual scan herself, but has received the report. The hospital was supposed to give us a disc of the scan (we asked several times and they wouldn’t). Unfortunately, this means she hasn’t had the chance to look at the scan herself. She always double checks the results (we don’t expect her to find anything the radiologist didn’t, however). She was quite surprised that they ran only a limited genetics panel. She said that they typically run a lot of markers on deaf/hard of hearing kids and they only ran 3 on Nolan.
We are not quite sure what the next step is. His ear tube surgery is tomorrow (he has visible fluid in both ears, worse in his left) and then we have a follow-up (post-op) on April 30. Dr. Brodsky does want him to have a follow-up hearing evaluation (he’ll have one at least every six months during his early childhood). Since we don’t know the cause, we don’t know if his loss is progressive or stable and he’ll take continual monitoring for a while to see how stable he is. Configured losses (like Nolan’s) are more likely to progress, but that doesn’t mean that all configured losses progress. He will have an eye exam at some point, but probably after he is a year old or so. Other than that, we’re pretty much at the end of the diagnostic process- we’ll probably have more genetic markers run and an eye exam, but after that we’re done. He’ll be monitored by the ENT until he is no longer a pediatric patient (or we move) and will be monitored by the audiologist.
We may never know what caused his hearing loss, but we know what DIDN'T:
- Jervell Lange Nielson Syndrome
- Branchi-Oto-Renal Syndrome
- Alport Syndrome
- Large Vestibular Aqueduct Syndrome
- Mondini's Dysplasia (or any other cochlear dysplasia)
- Connexin 26
- Connexin 30
- Mitochondrial A1555G
So now we just watch and wait!