Cochlear Implants: Q & A

I have received several emails recently from parents of children newly diagnosed with hearing loss. I love the fact that this blog has allowed us to connect with other families all across the country (well, the world, really) that are going through similar experiences. Some of the questions I have received may be on the [...]

Genetics

I received the results of my genetic test today. I have the same mitochondrial abnormality found in Drew. This means that my daughter most likely carriers this abnormality, as well as my sister, brother, Mom, her siblings, my Maternal Grandma, and the list goes on and on. Your mitochondria is only passed from your mother, [...]

One Step Closer

We were in Cincinnati today for another round of appointments and are now one step closer to having Drew receive his cochlear implants. Today’s appointments included a CI consult for Drew with Dr. Daniel Choo and follow up on the genetic testing results.
On the CI front, Drew is moving toward candidacy. Dr. Choo is confidant [...]

Genetic Testing Road Block

I had thought that I would be able to have my genetic testing done through my OB/GYN’s office this week for the mitochondrial abnormality that was found in Drew. I thought when they told me their lab ran this test it was too good to be true, as it is a very rare abnormality. It [...]

Genetic Testing Progress

It has been a bit of a struggle over the last week as I have been trying to secure the genetic testing I need to have run. With the results of Drew’s genetic testing showing a mitochondrial abnormality, I need to find out if I have the same abnormality. By knowing this information, I will [...]

More Genetic Testing

The past week has been a whirlwind, as I am trying to understand Drew’s genetic test results, and determine where to go from here. I have learned a lot about both his connexin 26 and mitochondrial abnormalities. As I have discussed before, the mitochondrial abnormality is the most worrisome, as it can affect others in [...]

Biology 101

I wish I would have paid more attention in my 10th grade biology class, or that I would not have avoided taking biology in college like I did. The genetic studies would really come in handy now, as I struggle to understand Drew’s genetic results for his hearing loss.
I understand the connexin abnormality. I carry [...]

ER: Columbus Version

When I was pregnant with my first baby, I told myself that I was not going to be one of those neurotic parents that flips out about the smallest things, spending time in doctors offices, asking silly questions about nothing. And I did just that. She is rarely sick, usually happy, unless it’s nap time, [...]

Trying to Understand

It has been a difficult day. While I am relieved in some ways to know the reason for Drew’s hearing loss, it has been emotionally draining trying to learn about genetic hearing loss and who in my family might be at risk.
Mostly I am concerned about the mitochondria abnormality found in Drew. I have been [...]

Connexin 26

I received a call today from Dr. Choo (see previous post) with the results of Drew’s genetic testing. While the results are surprising, I now have an answer to the “Why did this happen?” question.
Drew’s genetic test came back with abnormalities in his connexin 26 gene. This is the most common gene for hearing loss. [...]