One Thousand, Eight Hundred and Sixty One Days….

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.

%d bloggers like this: