Connexin 26 and 30

I know it has been awhile since my last post; we had not had anything new with Hattie's hearing, which is good.  We have been able to increase her hearing aid wearing, so she has them in all day and they only come off when it is time for bed.  Since she has been wearing them more frequently, we have been able to notice more consistent signs she is hearing something.  At this point, all we are looking for is a startle, a change in her eyes, or a cessation of sucking on her pacifier when we are talking to her.  I have been told even hearing babies may not turn and locate sound until about 6 months.  We have been really encouraged with her progress so far.

In March, we saw a Geneticist and decided to have some testing done on Hattie.  Our reason for doing this was simply because hearing loss can be syndromic and a sign there are other issues present.  We felt if that was the case with her, it was best to find out now and be proactive in appropriate therapy.  They told us it could be a couple months to get the results back, so we were very happy to finally receive the call from them last week.  Our prayer this whole time has been that we are dealing with a single genetic defect called "Connexin" and not a syndrome.  

We found out that her hearing loss is genetic, as Hattie has Connexin 26 and 30--meaning she lacks the normal function of a protein which assists in hearing.  We now know this also means Kevin and I are carriers of the mutation and will have a 25% chance of having future children with hearing loss.  We had no known knowledge of this prior to Hattie's diagnosis and do not know of anyone in our family with congenital hearing loss.  Most likely this gene has been passed down through generations, but has not manifested itself until two carriers had a child together.  I've likened it to playing a slot machine where everything has to come together just right for this to show up.  The good news with being Connexin positive is it typically only effects hearing and she, otherwise, is a normal, healthy baby.

We are one month from moving to North Carolina and are getting very excited.  May will be my last month of working as a dental hygienist (at least for a little while).  It is bittersweet, but I am really looking forward to staying home with Hattie and being able to monitor her progress with listening and speaking first hand.  We have an initial appointment scheduled with our new Audiologist and ENT at UNC.  They have a very established system and it seems our transition will be as smooth as possible.  We feel very blessed and humbled with the way God's hand has been involved in our move and setting up care for Hattie.

photo courtesy of babysitter Darcy :)