Otoferlin. A word familiar to most parents of children with ANSD.
As you will probably know by now, ANSD can have many causes. In fact, if you ask me (which you didn’t, but here I go anyway) it isn’t just one condition (it seems the professionals are heading in this direction too).
Defined, as it is, by idiosyncratic test results (rather than the particular cause of the problem), ANSD continually confuses parents who, like you and me, want simple explanations, simple answers and a plan of action.
When Oliver arrived in April, we finally had our answer, that the cause of Alice’s ANSD (and Oliver’s of course) was genetic. The most common genetic cause being a mutation in the Otoferlin gene – a gene which essentially creates a protein connecting the inner hair cells and the auditory nerve. No protein, no connection. (not exactly accurate, but it will do)
On Friday Oliver visited Kingston hospital to meet the Consultant Geneticist. And so now his blood will fly off to France (most probably) and we will have our answer. It makes no difference to the course of action, but will help with regards our children’s future decisions. The fact it is genetic is, in a lot of ways, a blessing. It means that the chances are that Oliver’s success with a CI should hopefully follow Alice’s path. Only time will tell. Alice was a gamble.
It’s the ambiguous cases that drive people (many of whom we have met) mad. Maturation (the eternal excuse for prevarication) being a case in point. At least we now know that we may as well get on with things.
Professionals….please….if you are listening. Design a protocol for each cause. Do more to ascertain the site of the lesion and to tell parents so they can make informed decisions and, most importantly, educate your colleagues. You have no idea how many professionals still have no idea about ANSD or profess to be experts, having only read about it in a book two days beforehand (we are good at catching people out at this). Your duty is to your patients, not to scientists.
We do our bit. We are currently making a programme with the BBC about ANSD….watch this space.
Thank you for writing this blog. It’s such a great resource! My 16 month old son also has ANSD and the cause is also Otoferlin. We live in the US, but we are from Spain. Surprisingly, his doc in the US didn’t want to do genetic testing. While in Spain this summer we went for a second opinion and found a wonderful doctor who immediately suspected otoferlin. He tested for that, and sure enough, it came back positive. His name is Dr Manuel Manrique and he works at Clínica Universitaria Navarra, in Pamplona, Spain. I can send you his link in case you want to include him in your list of resources. We are back in the US waiting for the CI to happen.