What’s next ?

So our new journey begins.  Oliver has the main symptoms of ANSD and lightning has struck twice.  So what to do next?  As I have learnt over the 13 years of knowing my husband, the two of us are inherently decisive and practical people. The irony of standing up at the Ear Foundation talking to TOD’s about what to advice newly diagnosed parents doesn’t escape me.  So, step 1 confirm the audiology (we’re off to St Georges next week), step 2 plan his speech and language therapy (we went to AV on monday and have a plan) and step 3 plan his surgical pathway (dear Dr David spent an hour of his precious time discussing with us last week).   Our experience with Alice shape our opinions on everything and is driving all of our decisions.

The big question that we want to get answered is why.  There is obviously something in our make up which means that we have the propensity to produce children with broken ears.  At present the most likely reason is a recessive genetic defect, mostly likely Otoferlin.  But no one in the UK currently provides this test and we don’t know the process for getting it done.  But I think this time we need to know, if not for us, but for our family, including Joseph, who could be a carrier.  if it is Otoferlin, then the outcomes for a CI are good (which is consistent with Alice) and the outcomes with aids alone are not (again consistent with Alice).  Having the genetics confirmed would make the decision to implant early easier.

But, with the exception of ground breaking surgeons, most babies are not implanted until between 6 and 12 months, so Oliver, potentially has months ahead of him not hearing.  I think this is the biggest difference to our journey with Alice.  Even after her diagnosis, we were not sure what she could or couldn’t hear, so we had no expectation of how she would progress, we always hoped that something had been getting through.  This time, we will all be watching for any signs of useful hearing.  This is where the combination of audiology and early SLT come into their own.  We had an amazing conversation with AV about how much information even tiny babies can give you about their hearing, if you know what to look for.  Equally, focusing on those early building blocks of communication, all the lovely non-verbal stuff, will mean when Oliver does get useful hearing we will have much less of a gap to catch up.

So we’ve taken the first steps, we have put our baby into the hands of the professionals we know and love and feel confident that we will do our best.  As a parent, you always want the best for your children.  As your mummy, Oliver, I promise I will do my best to make up for your wonky ears.

As an aside, if our bad maths is to be believed, the chances of Chris and I meeting and having this outcome, is something like 1 in 10 million. but more importantly for us, given we are on this journey, I  wouldn’t want to do it with anyone else.

Our sincerest thanks go to David, Jacqueline, Catherine and Rosie for knowing where to find tulips in Holland xx

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3 responses

  1. Hi Claire,
    My daughter too has ANSD. She was checked for Otoferlin and it came back negative. We still do not know the reason behind it either. Her doctor is Craig Buchman and he is with University of North Carolina in Chapil Hill, NC. I know this is very far away from you but I hope they can help. The best of luck to you and your family.
    Yvette

    • My niece believe it or not was among the first major group of innafts to get cochlear implants when it became popular and it was this amazing new thing, and my sister and brother in law are so happy they made the decision, although they were definitely nervous at the time. My niece is doing very well and has a whole bunch of hearing friends. I think it’s worth the risk for sure!

  2. It seems like you indeed are getting good advice, as what you are hearing matches up with what was discussed at the Auditory Neuropathy Spectrum Disorder 2012 Conference, hosted by Dr Charles Berlin in March.

    Basically, when the cause of the ANSD is genetic, you go ahead and implant because it will .NOT. get better. Although otoferlin is one genetic cause — It causes a breakdown in the inner hair cell connection to the nerve — there are other genes as well, such as connnexin-26 that can rear their ugly head.

    Now, as to the genetic testing itself: It can give you answers, but the question becomes, are they relevant? To this end, it goes to how aggressive towards implanting you and the professionals at Ropewalk are, i.e. if CI’s are already in Oliver’s future, then the expensive genetic testing is superfluous — And at $2000 (£1300) per gene, those funds would be better spent on auditory-verbal therapy.

    There is an ANSD group on Facebook you should join — Yvette, who commented above, is a member, too. Click here to join.

    Next time you’re at Ear Foundation in Nottingham, say hello to my good friend Katie-louise “Bionic” Bailey.

    Dan Schwartz,
    Editor, The Hearing Blog
    Follow The Hearing Blog on Facebook

    Send me a Friend request on Facebook for my presence for Hearing & Deafness discussions

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