Specialist Visit & Autumn with Jordy

Sorry everyone, I just haven't felt very motivated to blog lately. I've got no real excuse, it just happens sometimes. We've been having a busy and beautiful fall season though. The leaves are turning gorgeous colours and the temperature has been dropping more and more. We took a little time to get out and take some photos with Jordan amid the autumn splendour.

Last Tuesday was a pretty big day, the day of our long awaited visit to BC Children's Hospital to see Dr. Kozak, an Otolaryngologist - also commonly known as an ENT (ear, nose & throat) specialist. It went pretty much as we expected. First they took down a family medical history, asked some general information questions, had a look at his throat, nose and finally his ears. Turns out his ears were pretty waxy so doctor cleared those up, but did comment that otherwise his outer ear anatomy was pristine. And then he talked to us about his theory as to what is causing Jordan's hearing loss, what the next steps are and what more we may expect to learn. None of the information we gained was any kind of surprise to us at all. Basically, we and the doctor are guessing that Jordan's hearing loss is caused by a bad genetic bounce. Although we do not know all of my family's medical history we do know that there is a history of hearing loss on Chris' maternal grandmother's side. She had a sister who was partially deaf; she had three kids who were hearing impaired also, and one of those daughters has a son with hearing loss. We're guessing it was a recessive gene as there is no other hearing loss in an entire generation, so that recessive gene probably hooked up with another recessive hearing loss gene on my paternal side of the family, resulting in the manifestation of hearing loss in Jordan. I promise I will get Chris to write up a bit on his findings on the specific gene mutation that we think is responsible for Jordan's hearing impairment, as he is much better at explaining it than I am. But briefly: a large proportion of genetic deafness is caused by a mutation in the Connexin26 (Cx26) gene, the mutation impedes the production or maintenance of potassium ions in the cochlea which in turn, inhibits the cochlea's ability to convert sound waves to electrical nerve impulses.... or something like that.

At any rate, Dr. Kozak has ordered for genetic blood tests and is hooking us up with a geneticist to discuss the results. We should hear about that in a couple of months. Though he believes that Jordan's deafness is not associated with any syndromes, he still wants to arrange for an opthamological exam and if the genetics tests do not confirm our suspicions then more than likely Jordy will have to go for a CT scan to ensure there are no hidden craniofacial anomalies. What do we know at this point? We know that Jordan has a congenital, bilateral, non-syndromic sensorineural hearing loss. This means it was present at birth, it affects both ears, at this time we have no concerns about other physical or mental development, and it is a loss in the inner ear which means that it is permanent. What we do not know (or know for sure): Will the hearing loss progress? He says this is relatively rare, but we are to monitor it. What is the likelihood of any possible future little Dumers having hearing loss? He is ordering the genetics tests for this reason as well, we'll know more when we get the results.

In the end, it's good to know what caused the hearing loss but unless we find out we have more to be worried about, we consider it just another point of information. As far as we are concerned, Jordan is just our perfect little guy and we are in no way looking to shake our fists at the gene pool or give any distant relatives the stink-eye.

He really wants to drink that root beer! We got him a sippy cup this weekend to practice on because he has been expressing interest in mugs and cups... our little man is growing up!

It appears Jordy is considering Lee Valley Hardware for those of you on his Christmas list this year!

OMG - he's so damn cute, couldn't you just eat him?! Look at his puppy-dog hat!

getting ready to go into the hay maze (let me tell you, that smile didn't last long! I thought I was going to die of claustrophobia!)

And finally, we're getting ready for Halloween. Tia Aida and Jordy came with me to pick out pumpkins (calabazas en espanol!) and then we came home and decorated the house for a ghoulish gathering next Saturday. Before we left though, we decided to brave the Haunted Hay Maze! No monsters grabbed us or jumped out of corners, but it was dark and scary in there and Mommy only made it out alive with Jordan and Aida's derring-do! Whew!