Rare disorders: sufferers of the world unite
People living with rare medical conditions are increasingly taking part in online forums, where they encounter solace, advice – and much-needed company
Even if there are others with the same rare condition, it’s not always easy to make contact. “I’m sure there are others, but not too close that I’ve heard of here in Northern Ireland, ” says Denise Rogan of Turner syndrome, a condition she lives with.
Occurring in one in 2,500 girls, Turner syndrome – which is caused by a missing or incomplete X chromosome – is common enough that tens of thousands live with the condition worldwide, but rare enough that someone with the condition may feel isolated.
“My mum and dad were told what I had when I was born 40 years ago, but not many knew anything about it – that’s why I’m glad of the online Turner syndrome site because I can find out a lot more about it. I haven’t met anyone with Turners.
“All I knew about Turners was I couldn’t grow or have children, but since joining the online support group I’ve found out the various health problems associated with Turners which I didn’t know before. The people there have helped and supported me.”
Martin agrees. “It was a relief to talk to others who had similar experiences. There has also been a new LDS Families group set up and there I have actually met a girl who I call my ‘twin’. It is unfortunate, she lives in Denver, Colorado! ”
The nonprofessional advice and support that online forums specialise in can often include warnings about some of the potential pitfalls that lie ahead – which has proven helpful for Australia-based Natalie Coutts.
“My eldest sister lost her six-year-old son to cancer of the brain and that absolutely destroyed her. Following that, my 49-year-old uncle died of pancreatic cancer, and a year later my 29-year-old middle sister died of sarcoma. Li Fraumeni syndrome (LFS) is very rare and very real,” says Natalie of a condition that greatly increases susceptibility to various kinds of hereditary cancers.
“I was tested around four years ago, as was my brother and other sister. We have all tested positive. You would think that at least one out of four wouldn’t have it, being that there is a 50 per cent chance of inheriting the gene mutation. There is a 10 per cent chance that I will not grow any malignancies.
“So many people on the LFS site online have had cancer and even though I haven’t they are still so positive and very helpful with any questions or dilemmas I have faced. I sometimes take a back seat and quietly read everyone’s stories, and at other times I wholeheartedly contribute.
“The online group members were all very instrumental in helping me decide to go forward with Benji’s testing for LFS. As all of my siblings are positive I was convinced that he was positive but he wasn’t! So in a way I guess it restored my faith that life doesn’t always end in tragedy and because the people in the LFS support group share similar experiences we are all like one big mutant family!”