Everything has its wonders, even darkness and silence, and I learn, whatever state I may be in , therein to be content”
I have been ever so quiet. But there has been good reason.
3 years ago we read an article in the Herald -Sun about a 3 year old boy being taken in a helicopter to build up a visual image bank as he was losing his sight. This little boy was also profoundly deaf and had cochlear implants. He had just been diagnosed with Usher Syndrome, which Google states is the leading cause of deaf-blindness in the world. However, despite this claim it is an extremely rare condition , caused by recessive genes in both parents who carry a gene deformation which will go back many generations. That gene may be “activated” when they have a child and then they have a 1 in 4 chance of activating the syndrome. This article stirred something in my husband and he didn’t sleep for sometime with the worry that this may be the cause of Harry’s deafness.
The process to find out was not easy . It is not straight forward to request genetic testing to put to bed your fears about a rare condition that you have 1:650,000 chance of having given it to your child. The cost is too prohibitive and so you are asked to jump through many hurdles and be down right pushy to get the testing approved. And then there is the issue the cost. In 2013 the cost for testing the most common 90 genes to cause deafness was approx. . $4000(AUD). The test was only done in the US as Australia didn’t have the facility to test ecumenically at this point. This is no longer the case. In the last 3 years the price has halved and it can now be done within Australia.
I won’t go into the details about Usher Syndrome as there are 3 types and they all differ slightly depending on the gene that causes it. Harry’s version USH 1F is created as a result of our Ashkenazi Jewish heritage, which makes it even rarer. The fundamentals are that with USH type 1 you are born profoundly deaf , you have a dysfunctional vestibular system which affects your balance and around puberty an eye disease called Retinitis Pigmentosa sets in to deteriorate your vision leaving you with no vision at night and ultimately less than 5 degrees of sight or tunnel vision .There is a great resource at usherkidsaustralia.com and www. usher syndrome-coalition.org
We were given a confirmed diagnosis on Rare Diseases Day ( how about the irony in that ) late Feb 2014 and in July that year I travelled to Boston with the family from the newspaper article to a conference held by the Usher Syndrome Coalition USA who have created a network to bring together families and researchers worldwide. I was still extremely raw with the diagnosis at this stage but this event brought me clarity and most importantly hope for Harry’s future. The focus was on sharing news about the scientific endeavours that geneticists and researchers worldwide were working on to modify the genes that cause the eye disease Retinitis Pigmentosa. (RP) It was also amazing to connect with other families going through the same journey.
I returned with renewed vigour that we can do better than we were doing in Australia to identify these types of syndromes in young children and support other families through the education of key clinicians across the country. I can’t begin to tell you how many specialists told us we were crazy to think Harry was going to get this diagnosis. Comments along the lines of “ Many deaf kids have balance issues. Many deaf kids don’t walk till much later..” echoed through the halls of doctors rooms and Better Start providers we saw. It was simply that in their careers they never saw these kids. Traditionally USH would be identified when the children started tripping over their pets in their teens and their periphery vision had narrowed to the point they couldn’t see directly below or above them. I hold no issue with what was said before the diagnosis but I knew we could change things . We could change things because now we were 2 : two families in one region with all the same doctors. We had the power of our voice to advocate for all families with kids with USH in Australia. And so UsherKids Australia was born in Feb 2016 as a support network for all families in Australia to find information and unite under one banner for awareness and a cure.
But that’s not where it stops. In fact we are just at the starting blocks. Our family will stop at nothing to ensure the RP does not rob Harry of his sight. At this stage he has very little damage to the retina but every patient is different in the rate at which the RP sets in.
This month we set up a not –for –profit charity called Genetic Cures Australia ( website under develeopment) and we will use this as a fund-raising vehicle to support research at the Centre For Eye Research Australia working on inherited eye diseases.
This is not a part of the journey we had signed up for but we are in for the whole ride . All we ask is if you can support us in any way that you can, share our feeds, help create awareness.
Harry’s Ears is now on Instagram @harrys.ears and Usherkids is on instagram@usherkidsaustralia and twitter@usherkids