Rare disease sufferer, Marcia Bates, says initiative to decode complete sets of genetic information in specific diseases could transform care for future generations like her
Marcia Bates, 60, of Ashgate, Chesterfield, suffers with cerebella degeneration, a rare disease which causes an unpredictable ‘lag’ in the way messages are sent from her brain to other coordinating parts of her body. This can affect her balance and coordination, memory and concentration, certain aspects of vision, speech, writing and even lapses in doing day to day things that we all take for granted.
Now she hopes that by taking part in the Yorkshire and Humber NHS Genomic Medicine Centre’s ‘100,000 Genomes Project’ others will be able to find out more about the genetic mutations that cause her condition.
“I feel it’s important to make people aware of the condition. My dad had it for many years before it finally debilitated him. People thought he was drunk, but he wasn’t, he just stumbled a lot. Maybe if some research had been done then it may have extended his life. I’ve got a grandson and a daughter, so taking part in the 100,000 Genomes Project was a no-brainer, and it is only since I started talking to the specialists in Sheffield, that I have realised that I have had this for many years, like him.”
Through the ‘100,000 Genomes Project’ doctors and scientists are now able to sequence a person’s genome – or the full blueprint of their DNA – in two days compared to 13 years ten years ago. This information could lead to a greater understanding of how genetic mutations occur, which in turn could help doctors and scientists develop targeted therapies and treatments for people suffering with rare diseases and cancers.
For Marcia, it could transform care for future generations: “Messages from my brain don’t get to places they need to. I get confused easily and can’t take too much information in at one time. I can start a conversation, or be carrying out an everyday task, but if I am interrupted, it may take a few moments to regain my momentum. I also have to wear special glasses, for close work, to assist the eyes and help them converge. I feel very apprehensive about walking out on uneven ground. There’s so many times I would have fallen if I hadn’t had my husband with me.
“I have tried so hard over the years to try to hide things. I have often successfully bluffed my way through certain situations, but now that the symptoms have worsened, I have had to come to the conclusion that it is not only putting added stress on my life, trying to seem as though nothing is wrong, but it is also very evident that family and friends also show great support when they know that a person is feeling uncomfortable like this. This type of research may not be able to help me, but it could help a lot of people in future from the bank of evidence they can get from the DNA.”