Could you be a part of the next hearing loss breakthrough? 

I am collaborating with Sano Genetics to let you know about an opportunity to learn more about genetic hearing loss and receive notifications for upcoming research opportunities.  

 As part of this new opportunity, families may be eligible to access:

  • no-cost, non-invasive genetic testing (if eligible)
  • email notifications for relevant research opportunities
  • expert educational materials about the genetics of hearing loss 

 
We’re helping build a community of people interested in learning more about genetics of hearing loss, genetic testing, and relevant clinical studies.  Follow the link below to find out more.
 

[FIND OUT MORE] 

We’re committed to creating more options for people born with genetic hearing loss. Follow the link below to sign up.
 

[SIGN UP] 

How will my child’s data be protected?   

Data security is Sano’s top priority and, if you choose to upload it, your data will be stored on Sano’s secure, encrypted and wholly owned servers. You can find out more about what they do to keep your data safe by clicking the button below. 

Thank you, 

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.

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I am now off to cry.