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. Photograph: Philip Fitzpatrick.
Rachel Martin. Photograph: Brian Gavin Press 22
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.”