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


Jane Marson had a cold. One of those annoying, run-of-the-mill colds that just refuses to budge. Not that the teenager was too bothered – after all, it was winter, in 1995, in the English East Midlands. Not, that is, until she woke one morning at her Nottingham home unable to move.

Marson was taken to Queen’s Medical Centre, and the following hours and days were a blur – for Marson, as she lapsed in and out of consciousness, and for her parents, who followed her from ward to ward, consultant to consultant, and even hospital to hospital, as their daughter’s condition quickly went from persistent cough to three cardiac arrests in Nottingham City Hospital.

Finally, while receiving infusions of fresh frozen plasma, Marson and her family heard the appropriately scary title for the rare blood disorder responsible for her condition – thrombotic thrombocytopenic purpura (TTP).

“I’ve relapsed so many times – the last time on February 20th last year,” says Marson. “My condition will never go, it just lies dormant. It’s just as bad as cancer, but I was never given any information. Everything I know about TTP is down to myself and research.”

Research, since the 1990s, usually includes the internet, and more recently the use of online forums – virtual safe-zones where information can be dispensed and harvested from members with similar views or experiences.

For those finding themselves suddenly isolated with an uncommon illness, they can be life changers.

“It’s nice to know there are others out there when you have a rare condition,” Marson says of the online group for TTP. “It’s definitely been a life-saver for me.”

She now lives in Ireland, but worries about relapsing here. “When I moved to Ireland five years ago it was an eye-opener. Our Lady of Lourdes hospital in Drogheda doesn’t have anything to treat me with – it’d just be my first port of call: they would stabilise me with a plasma infusion and then I would have to be transferred to Dublin or even Belfast, so I pray to be in remission while living here. Last year, I was in England when I relapsed, thank God – how bad is that to say when I’m living in Ireland?”

While TTP is rare, Marson at least is not completely isolated on this small island. “I meet up with a lady from Blanchardstown [who has the same condition], so I tend to use the online group for support and to share my experience.”

For others, however, having a rare disease in Ireland can be an isolating experience. Limerick woman Rachel Martin’s condition is so rare it was first described as recently as 2006.

“In 2001, due to a routine echocardiogram, I was diagnosed clinically with Marfan syndrome [a disorder of the connective tissue].”

However, the diagnosis and Martin’s experience didn’t quite fit. Martin thought she was one in 5,000; in fact she was rarer than that.

She has now been diagnosed with Loeys-Dietz syndrome (LDS), which shares many of the symptoms of Marfan syndrome, including congenital heart problems and long digits, and also includes such features as easy bruising and a cleft palate.

“It was in 2008 at a Marfan conference in the USA that I was diagnosed clinically with LDS and then subsequently when I returned home, was genetically diagnosed with LDS. I had spent the most important period of my life, the time in school and college, not understanding why I had the many physical issues that I had and why I felt the way I did.

“For me, this final diagnosis at 28 gave me a sense of reason and purpose. However, I did feel alone. The few Marfan people in Ireland I knew didn’t share my experiences, and I was the only adult in Ireland with LDS. So, I reached out to the internet. I found a LDS forum, and on there someone from the UK saw me, and befriended me on Facebook. From there I got involved in Facebook groups and other forums.”

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.

Natalie will be in Ireland in July so her son Benji can spend time with his extended family in Leitrim and Mayo.

“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!”

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