Sibling ABR testing

So my eldest son Hayden who turned 3 in November had an ABR test today.
I was extremely nervous & anxious to know if he even had a mild loss without me even knowing.
Hayden did have a newborn hearing screen when he was born as he was born in America, but the genetic counsellor still told us it was important to have him tested again to make 100% sure he had no hearing loss.
So I'm extremely happy to report he has perfect hearing!!!!!
What a relief!!!

Next is the little fella Blake who wasn't able to be tested today, so his test will be done on March 18th.

Although i am not concerned one bit, now knowing hearing loss is genetic & that he didn't have a newborn screen i am worried :(

Will keep you updated!

Connexin 26

The title says it all. Savannah tested positive for the Connexin 26 mutation.

We knew she had tested positive for the Connexin Gene but we where unsure until today which one she came under.
Basically in a nutshell Each person carries 2 copies of this gene, but both myself & Alex carry a flawed Gene each. In Savannahs case we have passed both our flawed genes to her which results in the deafness.
What this means for her is, that she will definitely carry this gene to her children but it will depend on her future partner which will determine whether her children have hearing loss. If her partner does not have a flawed gene, their children will have normal hearing but will be carriers. This was what i was so worried about. I really thought because Savannah wasn't hearing that her children no matter what would be deaf also. So I'm so glad to have received this news.
It also means 1:4 chance for this new baby to have hearing loss, 2:3 chances of being a carrier if he doesn't have hearing loss & 1:3 chance of being completely normal & having 2 normal connexin 26 genes.
The two older boys will not be tested for the gene, but the same applies to them. 2:3 of being a carrier & 1:3 chance of not having any gene flaws.

Overall we cannot change the outcome but happy we finally have the answer to why Savannah has her hearing loss.
After decades of this gene being in both of our families, all it takes is to meet your lifelong partner & for them also to have a flawed gene to as i like to put it "activate" the hearing loss.
here are 2 pictures to explain a little better than i probably can.

This picture relates to Myself & Alex & the kids.



this picture relates to Savannah & her future partner





We are glad to have found out what caused Savannahs loss, it doesn't change anything for us, other than having the knowledge on how this effects the kids later in life.
Doesn't matter whether or not this will effect our upcoming addition, we are blessed already to have 3 healthy children & 1 which happens to have the hearing loss.

Its definately a BREAKTHROUGH!!!!!!!!!!

Yippeee!!!!
5 days & NO pilot cap! The small things that make life just that much easier & more pleasant!!!
My girl is growing up!

Finally a Breakthrough????

Its been 2 days, yes 2 days since Savannah has not worn a pilot cap ALL day long to keep her hearing aides in! Im not ready to jump to the sky just yet....but could this possibly be the breakthrough i have been waiting for?????
Time will tell, but so far things look good! boy its so nice to see my baby with all her beautiful hair out :)

So i haven't posted in awhile. Not really sure I'm very
good at this writing thing, and I'm sure there isn't many people reading it. But today i feel like putting some things out there may help me shake a few feelings i have.
A few months back we have some assessments done at the Implant Clinic. I thought most of the testing was pretty good & we came out knowing that the Implant at this stage was an option but they where certain it wasn't an option for her right at that point.
Today the "formal" letter arrived in the mailbox. After reading it & re-reading it, i actually feel like i have made some decisions that maybe i shouldn't have, maybe i was hearing what i wanted to from them (being the experts) and maybe they where not being completely upfront when i saw them & spoke to them.
Either way whats done is done & we are 2.5 mths past the appointment with amazing things from Savannah.
Anyways back to the Letter. Basically it outlined what they tested & how they went about their testing. Her hearing tests from her audiologist & the CI audiologist where conclusive of a Mod/Sev loss in the L & a Profound loss in the right.
At testing age her age was 8mths 2 weeks. Here are her scores:

Sub scale Standard Score Age Equivalent
Auditory Comprehension 79 7 months
Expressive Communication 98 10 months

TOTAL language score 87 9 months



I think if Savannah wasnt saying anything like she is now, i would probably be worried, don't get me wrong i am still worried. Maybe the Implant with the Mod/sev ear will be amazing for her & she will not have to worry about trying so hard to use the one good ear she has. Then i think what if the good ear is enough for her, why put her through the extra tests & surgery? Why does the decision have to be so hard? It would make it so much easier if she could simply just say "Mum i can hear you or yes i understand."
Instead i have to make the decisions on her behalf, but what if they are the wrong ones? what if i should have gone ahead with the implant in Dec & not wasted all this time? I know now that there is nothing more i can do with the CI clinic until May when they re asses her, is it wrong to hold some hope that things will continue going wonderfully & we will surprise them? That's what I'm hoping. I guess maybe deep down i haven't accepted she might need the implant. I see so many wonderful blogs & stories on other children & babies with CI's that i know they are amazing & wonderful. They could open up so many different avenues for her. So why am i so afraid of making a decision?
I think giving me this 6mth break from the Clinic & constant appts will really let me know whether or not Savannah progresses. She is doing wonderfully now & her speech therapist is extremely happy at where she is for her age. But that could change at any day.
But what makes things a tiny bit easier is that i know i gave the hearing aides more time to work if they are all she needs. When we re-visit again in May the drs will then make the call as to her surgery & if she needs to have the implant.
Wish there was a button to fast forward in time & see how things pan out either way so that a better informed decision can be made..lol in my dreams right.
Anyway for the moment we will continue what we are doing, savannah has more hearing tests in March & then we will wait untill May to make the CI decision.

On another note Savannah is almost 1! She just cut her first tooth & Her bday party is in 2 weeks time. So looking forward to it. No sign of walking just yet. Just pulling up on the furniture & walking around on everything.
Our final genetic counselling meeting is next week to find out the ins & outs of the connexin gene testing etc...
We are 7 weeks away from welcoming another baby into the family & will be anxiously waiting to find out if he to will have the gene flaw.


Well thats whats going on in our household at present. keep an eye out for more updated.

Good one Mama!

After months & months of guarding those tiny little hearing aides as best as i could, even though we have lost them, found them then lost them again, they have always made it back into our hands (THANKFULLY)
BUT yesterday the damn little things won & i took a defeat :(
Savannah was napping & i was scurrying around the house doing the cleaning & laundry so i could rest before she woke up. Well after the full cycle on the washing machine had finished i proceeded to take it out....only to notice that there where 2 shiny little pink hearing aides starring me in my face!
I don't even think i took a breathe at that stage i opened the washer up grabbed the hearing aides shook the residual water from them, changed the batteries in some hope they where still alive....After turning them on there was no sound...
I was shattered literally had tears streaming down my face.
I am usually so careful with them, but today was not to be my day.
I rang the technician at the audiologists office & he told me i had to bring them in to be couriered of to the manufacturer (Phonak) and that they would make the final assessment as to new ones or they will be repairable.
9 working days it will take! :(
So I'm panicking wondering how on earth she will cope with 9 days of no hearing at all, of course its probably not such a big deal in retrospect but i have a tendency to panic. So after more tears & the poor guy feeling sorry for me, we where allowed loan hearing aides for her. Same settings not the same hearing aides.
So this 9 days could not go any faster i tell you! So there you have it, the hearing aides finally beat me, time to consider chains for these darned things.

Just a general update

Happy New Year to everyone first off.
I have sat here for the last week trying to write something to sum up 2010 & the achievements & obstacles we faced. But still cant really put words to it. It was a great year but a hard year.
I figured i would leave a small update of December but other than that leave 2010 in the past & focus on 2011.

I briefly wrote about our Implant clinic appts & Genetic Testing appts. Well i have some news on both. Just before Christmas the Implant clinic rang to tell me the Drs had decided Savannah will not be implanted at this stage & she will be in review until she is 18mths old. I`m not sure if i had explained we went back for further hearing tests & behavioural tests & they determined she was hearing out of her good ear as what a CI would give her! Encouraging news, but we are still open minded about an implant later on for her.

On to Genetic Testing, Savannah was tested for Connexin 26 & 30 both are for the hearing loss gene. I was adamant that Savannah was a "just happened" case & that their would be no other reason for her hearing loss.
Well wasn't i wrong!
The geneticist rang us just after Christmas & Told us that Savannah tested positive. Her hearing loss is in fact genetic :(
The news that i just wasn't expecting at all!
We didn't get much information over the phone, she didn't tell us which mutation she had or anything to do with exactly what it means for her & us, firstly me & hubby need to be tested & then she will give us everything we need to know on 22nd Feb.
So after accepting Savannah's loss & being pretty sure it was something that just happened, now we are back to the whole unknown.
With Baby #4 on the way this baby now has a 1:4 chance of hearing loss, not to mention we need to have our older two boys re-tested. Hayden was tested at birth and Passed (but that's not to mean he still doesn't have a loss) And Blake never had a newborn screen as it wasn't available here in Australia at the time. We dont have any concerns over their hearing, but now we still need to make sure.
I feel like after we finally felt confident in everything we are back to square one!
I will keep you updated on the results.

Just to finish up quickly, Savannah celebrated her 1st Christmas, her first words & started crawling all in December! So overall not a bad month!
To date Savannah can say: MAMA, DADDA & BUBBA.
this kid is unstoppable! I swear she uses every letter in the alphabet when she babbles to herself.
So far she looks to be heading in the right direction, the hard work looks to be paying off!
here is some pictures of her first Christmas & a video of her saying dadda.

So 2011 brings a few special things in the first few months, Savannahs 1st birthday & Baby #4's arrival!