I was diagnosed with Usher Syndrome in 2006, I was 12 years old.
I had no idea of the complexities or challenges that this condition held for me.
Having been born severely deaf just 2 years after my Usher diagnosis I was also registered blind.
Deafblind at 14 years old, I was not old enough to be thinking into adulthood but more about how I would access education, keeping in touch with my peer group, make up, girly things, the dreaded hormones, yes those wretched things that turn your world upside down as a teenager and all along the way deafblindness could not be ignored even though I often tried to put it out of mind! Pretty hard when everything then evolved around support and accessibility.
You don’t just wake up and think ah yes I am deafblind and I can deal with it! You struggle with it, you feel anxious with it, your mental health suffers as a result. Then you are within that vicious circle of how, why, when!
You find out who your friends are pretty quickly as I saw friend after friend or should I say ‘So called friends” turn their backs on me - yes, you all know who you are! Actually don’t deserve mention except to say my real friends are still with me, they may be few but they are truly priceless.
Then there is support, how strange that on the eve of my 18th Birthday something quite miraculous happened……… I became an adult and most support withdrawn as for some bizarre reason overnight I became capable of living my life totally independently and without support!! Arguably the time when I needed it most!
Many of those “So called” friends went off on their next challenge be it university, apprenticeship or work they didn’t look back and consider my challenges had now become greater, they didn’t consider their excitement was equalled by my feelings of isolation, the realisation that my pathway was to be very different.
Whilst the behaviour of the “So called friends” appeared selfish and thoughtless, I’m sure it wasn’t meant - their excitement was that of care free 18 year olds, sadly I never had that.
As a young adult I had somehow gotten through education, more using my strategies using technology as a deafblind person and of the tools and technology I will always be so grateful.
Technology enabled me to keep in touch virtually which was good and bad, good I could reach others without leaving my safe space and bad that I isolated myself further than my disability had already, however this was to change thanks to one of my best friends and Apple!
My friend put me forward for an interview, several interviews later I was taken on in the Reading store and for the first time in a long long time I felt part of a team and more importantly with some training and customer facing I realised that the strategies I had adopted so early on were actually not just valuable to me but also to others and from there my journey and passion with assistive technologies, tools and accessibility began.
My passion expands from technology the how and why for those living with my condition but also for all disabilities, acquired disabilities, our ageing population and indeed the benefits for all.
Many will have seen me speak, heard my story, seen me in action on my own, my passion and determination to make a difference.
Many will have seen or worked with me at Nexer where I feel a valued member of the team, a team I feel so fortunate to be a part of.
Life goes on and I live my life as positively and independently as is possible.
Throughout my life I have felt let down, had my hopes shattered but each time thanks to family and my few close friends I have managed to pick myself up and keep going.
So the next chapter of my life I had to think about very carefully.
I am very fortunate to have an amazing consultant at Moorfield Eye Hospital, she (Mariya Moosajee) and her team are passionate about research and we have discussed it a few times over the last few years, indeed I donated some of my skin for research, happy to possibly be a part of some kind of science to help future generations. Never did I imagine there would be something that might become available for myself - hence my passion in technology and how it is able to enable all including people like myself now. From smart hearing thanks to GN Hearing (Resound One) to Alexa to Apple to online accessibility and all the many things in between it is these things I experience daily and that enhance my life now and rarely let me down.
However at the end of 2021 I was approached and asked if I were to fit a certain criteria would I be interested in being part of the first Usher Syndrome (Ush2a) trial, Sirius. The very first trial I had known of in the 16 years since my diagnosis.
I attended Moorfield Eye Hospital in London on 3 occasions for very detailed testing. The tests were intrusive, unpleasant and exhausting but the very thought that this trial could bring some sort of stability to my very limited vision meant for a me a no brainer, hope at last!
Besides the testing there would be a two year commitment from me which was more than just having the drug injected into my eye on numerous occasions, which was very unpleasant, but the thought of stabilising my sight made it worth it but that wasn’t all.
I also committed to not becoming pregnant in that two year period so as to complete the trial.
To some it may not sound much but at 28 years old and in a happy relationship it made the decision even more difficult, again that said my boyfriend and I put the hope of stabilised sight for longer ahead of any plans for a family.
I was the first person in the UK to receive the treatment which began in April and to date I have had 2 injections of the drug into my left eye, the next would have been due in January 2023.
On Thursday 11 August my Mum read an article on Twitter from ProQR advising the trial I am on is ‘winding down’ actually finished.
I had not been advised of this by ProQR prior to this announcement nor had my Consultant at Moorfield Eye Hospital.
ProQR have no provision for those of us who feel a deep loss, almost a grieving, once again hope gone. Taken away without thought or consideration for patients like myself who put themselves forward for these trials.
I am devastated the commitment I made has meant nothing to this company, was I just a lab experiment with no value or at least no value just yet, but then I hear (ProQR) are looking for a partner or dare I say a buy out!
So I say where is MY data, you will not destroy my hopes of a brighter future then potentially sell my data for profit.
ProQR - I’d like my data back to be used how I see fit not for profit.
The irony, I know the people at PROQR, I have spoken at their offices in the Netherlands, I attended their Paris Conference with my sister in January 2020, spoken with numerous of their staff, Board members included, been on their patient panel, advised them on how professionals and clinicians should communicate and treat patients / bridge the sometimes awkward communication challenges, something I did for over 2 years and then this!
All that intention and yet they used none of the advice in just announcing end of trial in a press announcement - shame on you ProQR, shame on you.
Yes I am very upset that the trial that held so much hope for those like myself has been wound down but that upset is compounded with the knowledge they had not taken onboard any of the advice on how to treat patients, again, shame on you.
For now I need to rest, I need to take stock of where I am at, how I feel and to spend time with my family and friends who are always there when I need them most and to reflect on a hope that was taken away in Twitter post!