Since the 18th August 2008. A day I will never forget. The day we found out the our beautiful Alice was deaf. That is how long it has taken to get our answer…..
Today it came.
I have to say I am shell-shocked; not because it changes anything or anyone; not because we now know something we hadn’t already suspected, but because we finally have our answer; we finally know which little pieces of an infinitesimal code were out by a fraction and why our babies were born with wonky ears.
I am relieved, sad, happy, depressed, angry, elated, confused and exhausted all in one emotion.
Alice…Ollie….everyone, meet Otoferlin (OTOF) Exon 21 Mutation C.2348DEL>p.Gly783ALASFSX17
I told you so.
On the plus side, we also have a suspected additional mutation at c.1469c>Gp.Pro491Arg which is newly discovered and thus we are now part of some scientific study. How terribly exciting. Also, as they are recessive genes, it is both of our fault….
I’m sorry babies.
I am now off to cry.
Alice's Ears 
All of the emotions you listed make sense to me! I am also sorry, happy, sad, frustrated, and relieved for you :O) :O(
As humans, the known always seems better than the unknown….it’s just that it often sucks to find out “the known”. I will hold you close in my prayers today as you deal with some raw emotions, but also will celebrate the fact that I KNOW you will move on and continue to be the amazing parents that you are! I don’t claim to be worthy of offering advice, but if I did offer any today it would be to have a good cry, smack a pillow or two, and allow yourself to grieve. And then, HUG those babies, and do a dance of joy for what incredible kiddos they are, all 3. They ARE incredible!!! Know what a difference you are making in the lives of people around the world (ME…in Canada), beCAUSE of these kiddos! And think of the difference you could make in the lives of babies not yet born. Well, I hope anything I said made sense and I didn’t offend in any way. I am honored to know you!! Chin up!! :O)
Shannon
I’ve said it before and I’ll say it again. We can deal with the trials and tribulations of everyday life. We can deal with the challenges that our little family faces. We do all this with our best feet forward.
What we can’t handle is human kindness. That’s what really makes us break.
Thank you so much for your kind words. They really mean a lot.
Chris
Xx
I’m sorry too xxx