Cancer left us in the dark
G diagnosed with a ne has heard of it. NE shares her story
health journalist for more than 0 years I’d never heard of it and or had anyone I knew. In the arly days we were left scratching ound on the internet for formation which was both affling and terrifying. Overnight our lives changed in ays we could never have magined. Coping with a rare disease is a ery isolating experience. esearch and expert treatment e often scant. While it is understandable hat money and time are vested in more common onditions, this can leave sufferers eling as though they are stumbling ound in the dark. There are more than 6,000 diseases hich afflict so few people that they e classed as rare. Some don’t even ave a name. The vast majority don’t ave a cure and sufferers are often ndiagnosed for years because so tle is known about their causes nd symptoms. Together it is estimated that rare seases affect one in 17 of the opulation – that’s 3.5million people the UK – so there is clear argument they should not be overlooked. A report by the charity Rare Disease UK found that patients and families are often left to research their condition alone. Patients become experts in their own condition and it is left up to them to inform and educate the medics they encounter.
All too often, they have trouble persuading doctors to believe their symptoms and their condition is initially written off as “psychological” or parents are described as “neurotic”. “Unfortunately the knowledge we have too often fails to get through to patients and their families, leaving them isolated and struggling to understand what they have and what can be done to help them. “This is a cause for huge anxiety and uncertainty for those affected by these devastating conditions,” says Alastair Kent of Rare Disease UK. “It is also a source of great frustration as patients rattle around the NHS seeing people who cannot help, having tests they don’t need and being treated for conditions they do not have. There must be a concerted effort to change this.”
FOR many common conditions there are countless sources of information and support but for more unusual diseases there is often almost no help or advice available, leaving families to set up their own help groups.
Yet this is where the power of social media comes into its own. Through Facebook, I was able to join several LCH support groups, based both here and in the US, instantly putting us in touch with thousands of families around the world who knew exactly what we were going through. Here was the support we needed: an online “family” who understood the symptoms of this bizarre and complex condition, had read up on the latest treatment breakthroughs and freely shared and discussed what they had discovered.
Consultant paediatric oncologist Dr Johannes Visser, who is based at the Leicester Children’s Hospital and is a trustee for the charity Histiocytosis UK, says that social media groups are “enormously helpful” to patients and often supplement explanations clinicians provide to families. However he does caution against pinning hopes on specific treatments read about on the internet.
“I don’t discourage patients from doing their own research and asking me about new treatments they have read about,” he explains.
“I completely accept it’s part of our job and it actually provides valuable opportunities to explore and explain emerging areas of research.
“We are currently studying some exciting new treatments but we know from experience that no one treatment is ever likely going to be the answer for every patient.”
Despite initial hopes that Sam’s tumour would “burn itself out” without treatment, it grew so big and so fast that on two occasions he needed emergency surgery to close a gaping bloody wound in his head caused by the tumour. Eventually his excellent medical team at the Royal Marsden Hospital in Sutton, Surrey, decided to treat him with a course of chemotherapy and steroids.
He has faced his illness and the endless medical procedures it has entailed with amazing stoicism and real courage.
We are well aware of how lucky we have been. In three months’ time, Sam will be finished with his treatment and then we can start to move on with our lives.
Yet before that chapter is closed there is a need to repay some of the kindness and support we have received.
So this autumn, I will be pulling on my trainers and plodding the 26.2 miles of the Yorkshire Marathon to raise as much money as I can for Histiocytosis UK, which funds research programmes so that more can be understood about this horrible condition.
It will be a huge challenge but I’ll be thinking of Sam and his fellow ‘histio warriors’ every step of the way.
Histiocytosis UK is the only dedicated charity for research and information support into Langerhans’ cell histiocytosis in the UK. Visit histiouk.org for advice and more information.
To find out more details about rare diseases visit raredisease.org.uk or call 020 7831 0883.