Monday, October 24, 2011

Upcoming genetics

We had a karyotype done through our regular pediatrician. It was one of the first tests she did when delays were noted at 12 months.

We didn't get FISH, which can look for smaller changes than would be visible on a regular karyotype, because FISH is targeted - it looks for specific changes that you ask for. But you need to suspect something first and test for it. If you don't have anything specific in mind, it is not useful.

We were offered a microarray test at our neurology eval. They said that it can detect an abnormality in like 15% of cases that already had a "normal" karyotype because it is a more sensitive test (but looks for pretty much the same type of thing).

We have a further appointment at pediatric genetics because they still haven't found anything specific, so this will be an even more detailed testing.

They keep testing her because she doesn't have a diagnosis yet, so we don't know the reason for her delay. Everything she has been tested for so far has come back negative. Maybe if you already have a diagnosis, they wouldn't need to keep testing you.

Tuesday, October 4, 2011

Audiology, asleep?

We are going back on Nov 2 to retest audiology, but I changed the appointment for during her nap time. She won't let him stick the probes in her ears, so I am hoping that she will fall asleep in the car on the way there, and we can do the test while she sleeps, according to my audiologist's blog. The audiologist said we can call when we arrive in the parking lot and he can bring the equipment down to the car and do it on her while she is asleep in her carseat. Hopefully she will just sleep through it and won't wake up! I'm hoping this will give us better answers than just the behavioral test did, since with that I question whether she is just bored by the test and that's why she isn't responding.

We know that I am a carrier for connexin 26 hearing loss (167delT), which could be a progressive hearing loss. BUT my husband is not a carrier of either of the two most common mutations in connexin 26, so it shouldn't affect her as far as we know. There are many other uncommon mutations that conceivably could have passed to her, which in combination with my 167delT could still result in hearing impairment. We are going to genetics on Oct 31, and I think that is one of the things they will test her for then.