Monday, February 10, 2014

Pendred Syndrome

Back in late October, we had C tested for Pendred Syndrome.  As a part of diagnosing his hearing loss, he had an MRI that showed a misshaped cochlea and an enlarged vestibular aqueduct.  These are both signs of Pendred Syndrome.  Pendred is a genetic disorder that causes hearing loss and, in some cases, an enlarged (but normally functioning) thyroid.  It is a recessive disorder which means that a person with Pendred had to inherit the mutation from both parents.  As is turns out, C does in fact have Pendred.  Apparently both F and I are carriers. Less than 10% of people with a genetic hearing loss have Pnedred.  You can read more here: http://www.nidcd.nih.gov/health/hearing/pages/pendred.aspx

Now that we know why C has a hearing loss, we can better predict his future (at least the part relating to his hearing!).  Is is likely that he will lose his hearing entirely as he grows.  This really just further cements our decision to focus on ASL as his means of communication.