Congenital Deafness

We have been requesting genetic testing for a year now, unfortunately insurance kept denying our request.  Thanks to our wonderful and persistent team, we were able to get genetic testing results, giving us more information on Sean's hearing loss.

Sean has the three following syndromes.  The last one, Pendreds, is a new diagnosis.
All three are complicated disorders, but are often interconnected in people with hearing loss:

Enlarged Vestibular Aqueduct Syndrome (LVAS/EVA)- An abnormality of the inner ear, which causes hearing to fluctuate, hearing is progressive, and causes issues with balance and vertigo. 


Mondini malformation- Sean's cochlea did not fully form correctly in utero.  This was observed by Dr. Moody in April, on Sean's CT Scan. 


*Pendred Syndrome- Genetic testing came back positive that Sean has Pendred Syndrome.  Receiving this news means that in essence it is deafness associated with thyroid disease.  As Sean gets older, we will need to monitor his thyroid, as he has a good chance of developing a goiter.

Pendred syndrome is autosomal recessive. Of course I had to do a little research on what this means, but basically, Sam and I are carriers of a gene for hearing loss and Sean ended up with both recessive genes, causing hearing loss.  1:4 chance of hearing loss, IF both parents are carriers of the recessive gene causing hearing loss.  Below is a cute picture of how to easily understand this genetic stuff, plus a great link too!

      http://raisingdeafkids.org/hearingloss/genetics/inheritance/recessive.php