In February this year (2018) I started the final module for my degree, a literature review of the latest research in my chosen topic. Suggested topics included stem cells and human senses (among others). I wanted to pick something that I could relate to on a personal level, knowing it would motivate me to do the best I could – so I chose aniridia.
I chose it because my cousin, Allyn, who recently wrote an article for Aniridia Network was born with aniridia. Up until very recently I didn’t know what it was. I knew he had trouble with his eyes and had undergone many surgeries. I knew he’d had stem cell therapy and a corneal transplant, but my knowledge ended there and I decided I wanted to know more, at a scientific level.
Growing up with Allyn, as part of a large family, I didn’t think of him any differently to any other cousin – he was loud, energetic, loved pizza and was pretty annoying on times. In recent years, when I realised how progressively worse his eyesight had become I wished and prayed for him to regain his sight, so he could live his life to the fullest. As a family we sat and awaited the news of how his latest eye surgeries had gone – when I heard that it had improved his vision and he told his sister “You’re just as ugly as I remember” (that’s our family’s humour for you!) I both laughed and cried, feeling overjoyed for him and hopeful.
So, I began my research. It was extremely obvious very early on that anirdia in its entirety was too large a topic. With the condition affecting multiple parts of the eye and me being restricted in my word count, I decided to solely focus of the cornea. I began looking at the genetic cause of aniridia and came across the term WAGR. Suddenly, everything clicked into place and made more sense. I remember my Nan telling me that Allyn had had Kidney cancer when he was a baby – she told me as she looked at the picture on her wall, of Allyn and his parents meeting Princess Diana on the hospital ward. I didn’t understand back then, but now I did and I cried. I cried for all he’s had to go through and I felt bad that I hadn’t sought to understand sooner. From this point onwards everything took on a new level of meaning for me.
In April I went to the Aniridia conference in London and was delighted to hear Mariya Moosajee talk of her research – the very stuff I had been reading in isolation, at home. I looked around me seeing the wonderful support network created by those with aniridia. The dad of a young girl told me about how he practically diagnosed his own daughter with some basic knowledge in biology and the use of the internet! I spoke with a mum whom had travelled from Russia and heard about her efforts to support those in her care. I was inspired! Mariya also mentioned the drug Ataluren, a nonsense suppression therapy which I had just been reading about, currently in phase 2 clinical trials (expected end date of December 2019). After spending so much time reading about the low success rates for corneal transplantations, this seemed so hopeful. I was both excited about the prospects of the research, but also saddened for those that it would not benefit – those without aniridia caused by nonsense mutations, such as Allyn.
As my ‘project’ developed I became increasingly obsessed – seeking the best way to bring the information together and consolidate what I’d found. In the last 4 weeks of writing my review my Grandmother sadly passed away quite suddenly, leaving me distracted. Having started a new job that same week I became quite disheartened with my progress. I felt forced to reduce my scope and submit a piece of work that was not to the standard that I would have liked. I felt like I had failed myself and was letting down my family for not producing work of a high enough standard.
Well, the results came in last week… I was awarded a distinction for my work! Obviously I am happy with this, but more importantly this project has helped me realise that I want a career helping others. I don’t think I’ll have a career in ophthalmology, but whether it be in research or something else, I want to help improve the lives of others by what I do.
Thank you, Allyn, for being my inspiration, my motivation and for the emotional support you have given me over the years. You were my shoulder to lean on when I needed it and I am so proud of you, for all that you have endured and achieved.