Katy Baker is a student with a rare disease. She recently spoke at a Cambridge Rare Diseases Network event in Cambridge. This is a short extract of her presentation which she has kindly shared with the East of England 100,000 Genomes Project. As well as her sporting activities Katy is also involved with a charity called Fixers UK, which helps young people use their personal experiences to change their future.
Katy’s condition is not one that is currently eligible but we think her story really highlights the importance of the 100,000 Genome Project for all rare disease patients now and in the future. Thank you to Katy for sharing this with us.
‘I am a 19 year old student living with a rare condition called Scimitar Syndrome. It is a congenital heart defect which causes only one of my lungs to function; it affects about 1 in every 100,000 people. Due to it being so rare, there is not much information about it that doctors and other professionals, let alone patients and families will understand.
Research in to rare diseases is important because this does not just give hope and maybe provide treatment or even a cure for us but it also provides both medical professionals and families with information about their disease that some individuals have to live with day in, day out. Rare disease patients can often feel isolated and have to show courage believing that there will be research on their illness which could have a life-changing impact on them. Personally, research on my condition wouldn’t just help me but I would feel so happy that it could change other people’s lives suffering with Scimitar Syndrome in the future.
I believe that the impact on your condition is very much about your attitude towards it. There may be some activities or tasks that you cannot do or need help with however if you believe you can do something, you should be determined and try your best to get there. From my Scimitar Syndrome, it has caused other complications such as Raynaud’s and Scoliosis and I still go for regular checks and tests at the hospital but all of this hasn’t stopped me from competing with my University’s trampolining team. There are days when I do feel unwell and do benefit from support from others but I just do the best I can.’
If you want to know how the project started just click on the link to the 100,000 Project.