26 year old Courteney will take part in the London Marathon to help fund research to find a cure for Macular Dystrophy, which runs in her family and will eventually impact her own sight.
Courteney Toombs, a paralegal from Milton Keynes, is passionate about funding research to cure Macular Dystrophy as she, her granddad and her dad all inherited the condition which results in eventual sight loss.
Courteney, 26, lost her grandfather to cancer in 2020. He lived with the genetic condition Macular Dystrophy, which affects the central vision.
“By the time his grandchildren came along he could only see our outlines. He never saw me directly,” said Courteney.
Courteney’s dad inherited the condition, and by October 2020 his sight had deteriorated so he could no longer work as a telecoms engineer. “He just couldn’t drive or see the screen, so he had to take early retirement,” she said.
A heart-breaking diagnosis
Genetic testing for the condition is available. Her brother doesn’t have the gene, but Courteney does. “I’ve got all those other implications and I’m watching it develop first-hand with my dad knowing it will affect me next,” says Courteney, who received her diagnosis at Moorfields Eye Hospital.
“I remember sitting in the room and the doctor confirming, ‘you do have the gene.’ My dad was sat next to me, and I remember he just looked at me and said, “I’m so sorry”. I think that broke my heart more than anything. He had no say in it.”
“So, I think I’ve taken it on knowing how it’s going to affect me later in life and thought right, I’ve got two ways I can go about this now; I can accept it and just resign myself to that’s what’s going to happen, or I can do as much as I can until I get to the point where I can’t do it anymore unassisted.”
Running for a breakthrough
In running the marathon, Courteney is following the footsteps of family members, including her uncle, who also has macular dystrophy and runs with a guide.
Courteney said: “I’ve done three peaks, also in my granddad’s memory, and some half marathons too. But the marathon is another level! When I got the call from you offering me a place, I was quite scared at first, I needed to think about it. A friend said, ‘Oh my God, you have to, you have to do it!’ So, I took the plunge.
“My grandad passing away made me re-evaluate how short life is. And you never know when your time is. I want to know I’ve given it 110%, that feeling was already there for me, but my diagnosis has just made sure.”
Courteney’s wish is that gene therapies will transform the lives of future generations. “Fight for Sight is such a brilliant charity, and obviously close to my heart. The research that you fund into vision loss means we know so much more about my condition than we did in my grandad’s day.
“The faulty gene I have – PRPH2 – was only identified much later in my grandad’s life. I think gene therapy will be the breakthrough, but that’s why more funding is needed. I do obviously have such an interest in it and it’s so great to see where its leading. The science is coming on leaps and bounds and I’m so proud to be able to help with that.”
Marathon motivations
During training Courteney says she loses herself in a podcast but on the day of the marathon may need an extra boost. “I’ll need something upbeat like drum and bass to keep me going. Towards the end I think I’ll play songs that are really meaningful to me, Freya Riding’s ‘Lost Without You’ is just such a beautiful song and makes me think of my grandad, so I might be in tears for the last bit listening to that!”
“I’ve heard a lot of people say you’ll, you’ll run the last 10 kilometres with your heart. Apparently, your body will start to give up around then and you’ll start to rely on thinking about why you’re running it. For me the benefits are going to outweigh the pain that I’ll be in, I’ll think about all the people the charity will benefit and then I know my head will just circle back round to how much they’ve already helped people that I know, people in my family and how that research could help me one day.”
