9th month

June 2: received genetic testing results from pediatrician
June 11: new ear molds arrive... too small... new ones made and ordered AGAIN
amplified both aides a little
June 15: weekly physical therapy starts to get help rolling and sitting better
June 30: new earmolds arrive (in record time) weekly audiology appts begin, to create accurate sound frequency reports

This month has been very busy with various medical appointments for Isaac. In fact, between all of his appointments, a couple of family dental appointments, and the big kids' swimming lessons, we've had little time to just sit back and relax at home this month.

Audiology: We've gone in to see Lt. Duhon every week this month. Twice we went in to get new earmolds. We had waited for over 4 weeks for the first set and by the time they arrived, they were too small. In fact, it seemed that they had a poorer fit then the previous ones. They didn't go into the ear canal as far and kept falling out just as easily. We could tell they weren't good ones immediately so we went ahead and made new molds right then. The next set arrived today and in record time of twelve working days and they now fit perfectly. Actually they are almost too difficult to put in because we've never had a such a tight fitting mold. They have a new feature called a helix stop which fits snugly under the top fold of the outer ear (in the helix). Along with these good fitting earmolds, we also received the Eargear clips we ordered several weeks ago. I feel like they'll work so much better than the roach clip style we were given originally. They hold his hearing aides close to his head and behind his ears so they don't flop out and become easy targets for his hands to just reach up and play with. Still challenging, but between both new parts, we're feeling happy and optimistic about wearing the aides daily.

Lt. Duhon wants to test his unaided hearing in the sound booths on a weekly basis so he can get some good readings on his hearing thresholds at all the different sound frequencies. At least that's my understanding of what he is doing. He would probably describe it in a more technical and more accurate way. :-) I'm taking him in on Fridays for this. Don't know how long this will last but hopefully Isaac will get used to this environment of testing to help us accurately set his hearing levels. That's the goal anyways.

Early Intervention: We have a regular routine of meeting with our speech therapist, Lisa, twice a week. She comes to our house in the mornings at 9:00 which is a great time for Isaac's schedule and it keeps me from getting too lazy and sleeping in much! One of Isaac's favorite games to play with her is when she sings simple nursery songs while moving his arms or legs. Then she'll stop singing and moving until he responds with verbal noises. Then the singing and motions continue, etc. He seems to really enjoy this. They also play games of drop the toy in the box, find the toy, listen to the sounds it makes, play with it a little, take turns, etc.

I've asked the physical therapist, Sherri, to work with Isaac this month because he doesn't seem to know how, or doesn't want to roll over from his stomach to his back and it seems to be frustrating him a lot instead of motivating him to just do it. She's not sure why he's not doing it either because he rolls from back to front just fine and he's holding his head up very nicely and he's even scooting around a lot now. She's encouraging him to build up his strength in his neck and stomach/trunk with daily exercises. I hope these activities will do the trick.

Baby things: At the well-baby check up this month, we found out the results of the genetic testing we had ordered while in Virginia. I'm not very happy with how this has all been handled because it was not presented to us in a professional or informational way at all. I just happened to mention to the pediatrician that we were still waiting for the test results and he browsed his electronic medical record and found (to his surprise) an email confirmation of the blood test. He printed it up and handed it to me. That's all there was to it. No genetic counseling, no follow up, no suggestions on what to do with the information, no recommendations on further testing for our other children, etc. So we don't have detailed information except we now know that his hearing loss IS because of a recessive genetic mutation. Meaning, Travis and I have apparently each passed on a recessive gene mutation called Connexin 26. I've been doing internet research on what this really means and will follow this post up with a post on what I'm learning. Lisa has been very helpful by collecting information and she's also trying to set up an appointment with the EDIS developmental pediatrician from her office. I'm not sure how helpful he will be but I understand he is very well informed of childhood diseases and disabilities so hopefully he'll be able to help me sort through this genetic finding.

I've been feeling a little bit paranoid over all of Isaac's little issues of not rolling, not having bowel movements, not passing normal vision tests, in addition to his hearing loss and speech therapy goals and trying to figure out if these little issues are all related to some bigger, unknown problem or if they are totally unrelated to his hearing loss. It's so tricky to figure out the unknown of each little person as they are born and developing during the first year (and beyond). One fact of this type of genetic hearing loss is that it is non syndromic, meaning it's not complicated with other physical issues. The other good thing about knowing this is that it's not a progessive hearing loss gene. We've wondered if his hearing loss will progress from moderate/severe to profound over time. These two things alone should give me peace about the other issues but I don't seem to feel comforted. It's still confusing. However, I'm very grateful for all the info we've received and all the help we are getting. Isaac is very lucky to be born in such a modern age with all the info and technology available to him.

Connexin 26

Back in March, Isaac had blood samples taken for the recommended genetic testing. This month we found out the results. He tested positive for the most common form of genetic based hearing loss, Connexin 26. This has cleared up some of the question mark areas we've been worried/wondering about but has also surprised Travis and I. We had NO IDEA either of us were carriers and now to find out that we each had a part in Isaac's hearing loss has been a bit of bad news but I guess more information, good or bad, will help us understand this disability better. Here are some snippets of information of my research on this. (I probably should have included the source references but since this isn't a formal research paper, please don't grade it as such :-)
Children born with bilateral (both ears) severe to profound sensorineural hearing losses are typically referred for genetic testing for Connexin 26 mutations. Connexin 26 mutations are genetically transmitted from parent to child in a recessive manner, which means that an affected individual must inherit one copy of the non-functioning gene from each parent. Carriers who only have one copy of the gene (i.e. one normal gene and one mutated gene) do not manifest any of the signs of the condition, but have a 1 in 2 chance of passing on the defective gene to their children (who would then also be carriers only), and a 1 in 4 chance of having an affected child if the other parent is also a carrier. Connexin 26 mutations produce a pre-lingual hearing loss, because it affects the child before they are old enough to develop speech.

Usually, mutations in the Connexin 26 gene are recessive, meaning that both the mother and the father of the baby need to have the mutation for it to cause a hearing loss in the baby. Hearing loss due to mutations of the Connexin 26 gene is almost always congenital, severe to profound, not progressive, and occurs without any other medical problems (nonsyndromic), meaning the mutation produces only isolated hearing loss. There is NO increased risk for other medical problems that are commonly associated with hearing loss such as blindness, thyroid problems, kidney problems, or balance disorders. However, there is in a minority of cases a higher incidence of skin disorders in patients with a Connexin 26 mutation.