• Coming of age

    September 14, 2012 By in auditory neuropathy spectrum disorder 10 Comments

    I don’t think we ever planned to get here.

    I’m not sure what we were planning, but we have spent the past two days recounting our darling Alice’s story to the BBC and it has really got me thinking.

    By way of an explanation, the BBC have picked up on the ANSD story and have been working with us, Kai Uus, St. George’s Audiology and David Selvadurai to make a short documentary about ANSD and Alice and Oliver’s story. Wow. All I can say is thank you so much to Louise, Jane and Jean who made the whole experience so much fun and for believing in our story. We will let you know when the programme will be out. I hope it continues to further awareness of ANSD and to help answer the questions of parents who find themselves in our boat.

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    Anyhow. This also got me thinking. We have now had so many emails through our humble little blog. We are touched every day by the families who thank us for sharing our story. We are so lucky we have got to meet so many of you. This is what got me thinking. In the UK at least, how would experienced families feel about volunteering to meet with new families to offer help and advice? Or would you be happy, at the very least, to share your contact details with us to share with others?

    I met a doctor in a corridor at St. George’s today who I had never met before, but who knew Alice’s blog. We get over 100 hits a day. Facebook it is not, but we now feel a real sense of duty to make a difference to the ANSD world. What would you do?

  • Oto-what?

    September 13, 2012 By in auditory neuropathy spectrum disorder 1 Comment

    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.