Looking for answers

Another day, another long drive to attend another appointment... This is becoming routine for us now (in the words of my husband "it's a sh**, but there are many others out there with worse problems").
This weeks journey took us to the Austin Hospital to visit the Genetics Department. We are looking for answers. For us Jaime's deaf diagnosis came as a shock, this is not something that ever entered our minds as a possibility, so here we are, on a quest to learn why.
1 in every 500 babies born in Australia will be diagnosed with some form of deafness. The most common cause of congenital hearing loss is genetic, a small percentage is caused by maternal illness (mumps, rubella or influenza) or exposure to toxins and, for others, they can't find an answer. Although I was healthy throughout my pregnancy we are investigating both disease related and genetic causes. We do not have to find out, however, having answers will put our minds at ease- some diseases and genetic causes can be associated with additional complications, I want to know if I need to be on the look out for any other problems. Having this knowledge will also allow my husband and I to make an informed decision if we decide to give Jaime a little brother or sister, to know if we have a 1 in 4 chance of another child with hearing loss or to know to watch out for maternal illness. This may not sway our decision, but rather prepare us for the road ahead...
This weeks visit involved a meeting with the genetics specialist, she informs me that there are hundreds of genetic causes of deafness, some are syndromic (associated with other abnormalities and developmental delays) others are isolated to hearing loss only. After the physical examination, it is determined that Jaime appears to be developing normally... given this, it was decided that we would begin with a test for the more common "deaf genes", these are the Connexin genes (Cx26 & Cx30), these genes affect the structures of the small hair cells within the cochlea and are most commonly associated with severe to profound hearing loss. If Jaime tests positive for the connexin malformation we may take comfort that her hearing loss should be an isolated problem, this will also mean that being a recessive gene a second child would have a 1in4 chance of being deaf and a 1in2 chance becoming a carrier of the gene (asymptomatic).

Genetic testing requires bloods to be taken and sent off to look for genetic markers, so far in Jaime's short life we have been back and forth for multiple blood test, up until now these have all been done via heal-prick, drop-by-drop (a long drawn out process when a large volume of blood is required), today Jaime had her first venus-puncture (bloods taken from a vein in her arm), a daunting prospect, however in the end a much less painful procedure for both baby and mum!

Now we wait... Results will take approximately one month, this will coincide nicely with our infectious disease specialist appointment, I hope between the two we might get our answer.

Thursday we ventured to Taralye for the first time. I was excited to see the campus facilities and meet some other mums with deaf children. For the first time I felt as if I wasn't alone, I felt understood. It is difficult to explain what it is like to talk to other parents and not having to worry about explaining things along the way (not that I mind) however it is nice to talk to parents that have been there, done that.
I left for home feeling positive, after the results of Mondays hearing test and the confusion I felt, I now felt a little clearer, I left with renewed optimism for Jaime's future, and most importantly a real excitement about the prospect of implantation. Watching the other children who had recently been implanted, and listening to the feedback from their parents, I desperately hope Jaime will be eligible for a cochlear too!

After all of the too-ing and fro-ing of this week I look forward to next week, only the one appointment at the Implant Clinic... We can finally put our feet up for a little while...