Waardenburg Syndrome?

From the beginning of our journey, I started reading about the genetic causes of hearing loss. I read about the characteristics of Waardenburg Syndrome, and I started to ask questions. We were always told no, that Audrena would have unique facial features if that were the case.

Since the Usher Syndrome mix-up, we have been seeing a really great ophthalmologist at University of Iowa Hospitals & Clinics. We see this doctor periodically to keep up with Audrena's eyeglass prescription and also because she works in genetics as well. She has been working hard to determine what caused the unique characteristics that Audrena has: heterochromia (her eyes are 2 different shades of blue), hearing loss, inner ear/vestibular structure abnormalities, etc. Over the summer, she asked if we had ever heard of Waardenburg Syndrome. Randy explained that yes, we had always questioned it because heterochromia and a lighter forelock runs on my (Carri's) side of the family. She explained that because I have the lighter color forelock and because of Audrena's characteristics, she would like to send a sample to be tested for Waardenburg Syndrome. Type II does not have the distinct facial features, and only roughly 20% of people with Type II have hearing loss. However, she said it does often come with vestibular structure changes. Of course, we agreed to the testing.

The test results showed one variation on each of two different Waardenburg Syndrome genes. However, those variations were ruled "not likely." Because the testing is relatively new in the world of genetics, the doctor asked us to do further testing. She will now be comparing samples from me and other members of my family who have the traits to try to prove her theory that we have a mild variation of Waardenburg Syndrome. If we do, the good news is that it does not change anything for Audrena. It is not progressive, and nothing else will develop. It is what it is. For the rest of us, it could be very informative, especially as the younger generation starts to think about having children.

However, if she does not prove anything with the testing, then we still do not have an answer. I trust this doctor, though, and I think she may be correct. I guess time will tell, but given what we went through thinking that Audrena might have Usher Syndrome I will take Waardenburg Syndrome, or even the unknown. In the meantime, we will continue to see this doctor for Audrena's glasses. It's a long drive, but it is worth it for the quality of care!