A unique project to capture the reality of life with a genetic condition to help healthcare professionals learn has just collected its 100th story.
Health Editor Madeleine Brindley spoke to Siobhan about how she became involved
WHEN Siobhan went to her doctor suffering from repeated bouts of an eye infection, she was puzzled when she was sent for X-rays.
But they revealed the real cause of her problems, a condition called ankylosing spondylitis (AS), which both her brother and her father had suffered from.
The treatment at the time she was diagnosed – Siobhan had just finished college – involved hours of traction and wearing a constricting corset all day long.
Siobhan, who has two children and has asked for her identity to be protected, said: “When I first found out I had it, it was a bit of a shock. My dad had it and my grandfather had it – I thought it only affected men.
“You get bouts of remission in between flare-ups. When you get an inflammation, it’s usually in the spine and your body builds up extra bone. When the inflammation subsides your spine becomes fused together bit by bit.
“In the end I packed in the treatment; when I found out the treatment had changed to keep people as mobile and active as possible, I went back.
“I think people in my age group probably went downhill a lot faster because of that earlier immobilising treatment.
“I never railed against it, because that doesn’t get you anywhere, you just try to keep doing things even if you feel bad.
“I didn’t do anything wrong in developing it – it was just something that I inherited.”
Siobhan, now 57, is the 100th person to take part in the University of Glamorgan’s Telling Stories project, which was launched in 2007. It was developed to help health professionals understand the impact genetics has on people’s lives by using real-life stories from individuals with, or at risk of, a genetic condition, their family members, carers and healthcare professionals.
The stories cover a range of genetic conditions from cystic fibrosis and Down’s syndrome to diabetes and breast cancer.
Siobhan, who tested positive for a gene linked to AS, although carriers do not always go on to develop the condition, said: “One of the reasons I wanted to tell my story was that I was prescribed an anti-TNF drug, which affects your DNA and stops the build-up of bone. I feel fantastic now.
“When I was really bad, I couldn’t walk upstairs – it would take me more than 45 minutes. It was exhausting.
“But after injecting myself with this new treatment once a week, I went upstairs carrying something in one hand. My husband told me that I’d walked upstairs only holding the rail with one hand. I could walk from the kitchen to the next room without using both sticks.
“It doesn’t reverse the damage that’s already been done but it does stop it from getting any worse – I hope it keeps working.”
Siobhan’s health has been complicated by a diagnosis of type 2 diabetes 10 years ago. The combination of the two means she has frequent doctor and hospital appointments, attending as many as four different clinics a week.
It was her extensive experience of NHS services that also led her to take part in Telling Stories.
“If you have a complex set of conditions, you can end up going to three or four clinics a week,” said Siobhan, who has recently completed a masters degree. “When you work full time it can be difficult to organise that. You shouldn’t have to queue two or three times to be seen for two or three different things or have blood taken repeatedly – why can’t they just take one lot? It’s about the practicalities of being a patient.
“Too often I find health professionals only see or deal with the part of you that interests them and not the whole person. The Telling Stories resource is a good way for us ordinary people to be ourselves and hopefully that’s what the health professionals will see as well as understanding more about genetics.
“I’m also doing this to raise awareness of AS – it’s not just a bad back, backache or a touch of rheumatism. It’s a really horrible thing to live with.
“I hope Telling Stories carries on – I’m very keen for people to know how good it is and just because it’s all to do with genetics, it doesn’t have to be rare diseases only.” She added: “It seems professionals are quite interested in what we ordinary people think as well – obviously they know the science; I know my own experience, my brother’s and my dad’s, which is more powerful than any textbook can be.”
For more information about Telling Stories or taking part, email tellingstories@glam.ac.uk or visit the website at www.tellingstories.nhs.uk
