It's that time of the year where the Glendalough trail 2015 is in sight!! After an amazing response to last year's fundraising and awareness efforts I'm back again to raise more awareness of Usher Syndrome, while raising funds for a very worthy charity.

To first explain what Usher Syndrome is for those who don't know and my connection to it. Usher Syndrome is a genetic disease which is a combination of some degree of hearing loss and the progressive eye disease Retinitis Pigmentosa (RP). Retinitis Pigmentosa first starts off with decreased night vision and then slowly progresses to affect your day vision. The peripheral vision is usually affected first by slowly dying off and then the sufferer is left with tunnel vision, This tunnel then gets smaller and smaller until there is no sight left. This can happen over many years like 20 or more for some or it can happen in just a few short years for others. There is no way of telling how it will progress for any sufferer as it's different for everybody. There are 3 types of Usher Syndrome, 1,2 and 3, and there are many subtypes which can only be confirmed by genetic testing. I have Usher Syndrome type 2a.

So it's a disease that affects two of your main senses, your sight and hearing. Two of the main senses which is used, and needed, to interact with the world around you and that is slowly being taken away. A disease in which I was told I had , just a few weeks before my 34th birthday, in March 2013. While I was hearing impaired all my life, I wore hearing aids since I was 3 and it allowed me to access sounds and to speak. So to be told that as a busy mum of 3, that I was going blind and in fact my eyesight had already deteriorated quite a good bit that I had to give up driving, was shocking and devastating. And also the fact I could lose more of my hearing too made the diagnosis even harder. A cruel disease not just for me but for my children, family and friends as they witness this happening to me. And there is no cure. Nothing to stop the progression of this disease. To me, my future looks bleak as I become a blind person and may also lose more of my hearing. It's distressing that this is happening and there is absolutely nothing I can do about it.

Another upsetting aspect of the disease that there is no support or services available for me. I've learned that Usher Syndrome is the leading genetic cause of deafblindness but yet it is so rare that figures vary widely to how many are affected, with some saying 1 in 10,000/20,000 affected by it. And yet deafblindness, is not recognised in Ireland as a unique disability which means there is no support and services available for me. I have had to deal with this alone. While I am now involved in a group called Usher Ireland with others,  this is all voluntary and there isn't much we can do but only help others to feel less alone with this isolating disease. There is a campaign, #ImNotInvisible (the brainchild of another Usher Syndrome sufferer, Carol Brill), which has been undertaken by many including the Fighting Blindness to try and get the government to recognise deafblindness. But we have as yet to receive response from the government on whether they will or won't, which is disappointing.

To all those that supported me last year, huge, huge thanks to you all and that you have no idea what it had meant to me. It had kept me going strong for the last year. These days , I've learnt to try and not think about the future, as it's scary but it has not happened yet. Also recent events showed me the importance of living each day, one at a time as we don't know what tomorrow will bring. I do hope you can support me again this year in any way you can even if it's just sharing this as it all helps in raising awareness of Usher Syndrome.

Debs xx

(JustGiving--Donating through JustGiving is simple, fast and totally secure. Your details are safe with JustGiving – they’ll never sell them on or send unwanted emails. Once you donate, they’ll send your money directly to the charity. So it’s the most efficient way to donate – saving time and cutting costs for the charity.)