The Final Answer

We have finally gotten back the last genetic test results for both of the kids and the diagnosis is that they both have Pendred Syndrome. Pendred's is a mutation of a gene called the SLC26A4 gene. It is a recessive trait, so BOTH parents must be carriers in order for them to pass it along to their children. Because we are both carriers, any child that we have has a 25% chance of getting the sydrome, 50% chance of being carriers, and a 25% chance of neither carrying it or having it. I'm almost positive that my Dad's father had Pendred Syndrome, and probably two of his sisters as well. So I know where it came from on my side. Brian has a sister with hearing loss also, but it is not Pendreds. I don't know if there is any other history of hearing loss on his side. This is all so fascinating to me!

They estimate that 2 to 3 children out of 1000 have hearing loss in general (lets say 20-30 out of 10,000 for our purposes here) and about half of all hearing loss is genetic. So out of 10,000 kids born, about 10 of them will have genetic hearing loss. Pendred syndrome accounts for 5-10% of all genetic hearing loss, so that means that 1 out of every 10,000 people born will have Pendred. We have two of those kids. Granted, it is genetic so it is more likely to be concentrated in some family lines. When we decide to have more kids it will be interesting to see what happens.

People with Pendred syndrome are expected to lose hearing over time, and about half of all people with it may experience and enlarged thyroid (goiter) and some may even experience balance issues. Much of the other symptoms do not occur until young adulthood, and do not affect their quality of life or life expectancy. It is almost a guarantee that at some point in their life they could lose all or most of their hearing, so we are accepting of the fact that one day they may need cochlear implants.

So life goes on, and nothing has really changed for us with this news. They are happy, fully functioning kids with their hearing aids, and we will continue to be aggressive with hearing testing so we can stay on top of their hearing loss.

I don't know about other people with hearing loss or with kids with hearing loss, but I really enjoy talking to other people about it. I appreciate it when I meet someone new and they are curious about my kids' hearing aids and ask questions. So if you ever have any questions, don't be afraid to ask. And if you ever see another mom with kids with hearing loss, talk to her. She would probably appreciate it too.

If you want to read more, click on the link below.

Pendred Syndrome