Genetic Testing

Well, today we had our genetic testing appointment at Emory for Emmett. We have wondered if there was some new discovery made in the field for hearing loss, but it turns out that there is not. We have also wondered if doing this again would be of any benefit since we did the testing with Joanna just under two years ago. After her appointment we got a call from Emory stating that she had no genentic reason, that they could test for, for her hearing loss. So.......

The whole family drove in today for the testing, we were told having everyone there may be of benefit if they wanted to physically exam for similarities between Dad, Mom, and kids. Well, ends up since they still had Joanna's report, they basically took all of the family info from her chart and transferred it to Emmett's. Wow! How 'bout that! They did add a couple of new things we have found out since, but it was all basically the same.

The Geneticist reviewed everything and told us that YES, since this is two out of four children with hearing loss, it is a genetic loss, however it not one that is able to be tested for-meaning it is more rare or not as common, that they know of, as the two that they are able to test for. Joanna had neither of the two that are testable. So.....

We left the office with no blood work taken, Emmett was happy about that, and we are off to get an EKG. She said that from this point on, she wants an EKG to detect anything wrong with the heart, because that would be another indication if it comes back with a finding. At that point, we would return for further testing.

The positive points to the day were: we finally got a copy of Joanna's test results and the formal letter from the Dr. that we didn't receive two years ago, we also got some questions answered that we had about something concerning their hearing loss and some syndromes related to it, Emmett didn't have to have blood drawn, and we got to spend the morning together as a family even though it was six of us in a small exam room for 30-45 min. And I have to applaud the kids, it was the six of us and when the geneticist came in she had a resident Pediatrician and two genetic interns with her.....it was a room full.......and the kids sat quietly and listened the whole consult. Now after they all left the room.....that's another story! :-)

So we keep telling ourselves that it wasn't a waste of time, that our morning was not wasted.....we did get answers and now I have another test to add to our repitore of medical exams for our babies with digital ears. And boy do those come in handy at times.....when visiting other specialist!

So the day is done, now we wait for the order for the EKG, and we hope they don't find anything from that.....and if not, then when they are adults, they can do testing again and see if genetic science has come up with any other reason for their loss.

We know another family with the same senerio as ours and they are in a genetic research program that studies families like ours to find out answers as to genetic reason for the loss.....a more intense, focused look. The though has crossed our minds in hopes that it could help another family to find out why in the future.....but that is just a consideration at this point.