What do you say to a room full of Audiologists and TODs about being the parent of a child with ANSD (especially with the UK’s leading researcher also sitting there)?

This was the awkward situation I found myself in on Monday.  As my other half kept reminding me, speak from the heart, so I did.  I guess the point is that I wanted to reflect to them how hard we as parents find ANSD and what they can do to help.  I also wanted to say thank you to the Ear Foundation for inviting me and for trying to improve the pathways for our ANSD kiddies.  So here goes, I won’t write the whole speech out, but the key points were as follows……

Firstly I told them the fairy tale of Princess Alice.  A classic Disney story with horrible tragedy, followed by a happy ending.  The story of Princess Alice is basically a summary of 3 years of blogging and a familiar tale to many parents.  But more importantly I had four asks….

1. Why? – As I sit here with Baby no.3 on the way, we’d like to know what went wrong.  For some the answer is clear, prematurity, jaundice or specific drugs.  For us and others there is nothing in the family or child’s medical history to hint at a cause.  We are part of the “Well Baby” population and the latest research says that there is a 0.2% chance of this.  We have never been offered genetic testing or counselling and I know there is still much work to be done on this.  But if we are carriers for our and Alice’s future families we would like to know why.  Telling us that a nice lady in Paris may know is all well and good, but how do I get there?  Also knowing ‘why’ can help make other decisions.  Prem babies are more likely to grow out of their ANSD (1/5 chance) and Otoferlin babies are unlikely to recover (so implant early).  ‘Why’ helps make decisions more quickly.
2. Pathways – we are always told that time is the great unknown in ANSD.  Testing can be variable and inconclusive and the myth (or not ) of maturing out of it causes clinicans to be hesitant.  Caution with hearing aids is also common, but this seems unfounded (as some ANSD children would lose those OAEs anyway).  If hearing aids are going to work, they need to be at the right level.  Our advice is test often and try and see the pattern.  Also a clear pathway allows parents to make decisions regarding methods of communication.
3. Outcomes – we searched for months for the answer to a simple question, could we ever give Alice good sound?  Could she ever hear anything useful?  Would a cochlear implant be the miracle we were searching for?  Eventually we risked 3 hours of surgery on an educated guess, fortunately the sun shone that day.  But this can’t be right.  We spoke to specialists around the world from Sydney to Florida and across the UK.  Fly to Sydney for an EEABR? CAEP and other research is coming but most are not available to UK families.  We are essentially flying blind.  We want our child to achieve, not to spent years in limbo.  Also for CIs, doing it early gives the best chance of success.  Alice’s implant has been highly successful, but she still had a 2 year speech delay at switch on.
4. Information – ANSD is a confusing diagnosis, parents are often left unsure of the path ahead, what useful hearing their child has and what the possibilities or potentials of their child.  A recent NDCS session on the website netmums highlighted this of the 8 questions 2 were from ANSD parents screaming for help.

Our blog is now a key resource for many ANSD parents.  AV UK has disproportionately high numbers of ANSD children on their books, which they say have often come from Alice’s Story. My husband wrote the wikipedia entry on ANSD and we are often called by parents seeking answers or at least a friendly face.  We also regularly get involved in the AN yahoo group in the US.  We are not experts, we are not audiologists and I have only a GCSE in biology.  Parents are befriending google in the vain attempt to find something. If you google ANSD the first 4 answers are US websites then this blog and then wikipedia.  It can’t be right that 2 interested parents sitting in South-West London have had such a disproportionate impact?

There are experts out there, please make your information easily available.  Please also spend 15 minutes adding to the Wiki article – we don’t know everything. We’d also love it if parents and professionals alike helped us to populate this site. We try our best but can’t get it all right. Please do drop us a note if you have info you’d like us to add to any of the sections.

So there it is: No rocket science, no big announcement, just a plea to help us through the minefield.