Writer Carly Findlay
People often ask me whether I'd like a cure for my Ichthyosis. I tell them no. This is my life and I am doing ok. Ichthyosis is part of my identity and I am proud. While it would be nice for the pain to be taken away, I don't want an appearance cure. I see this as a way to fix something that's broken, and I am not broken.
I understand the desire to cure a rare disease - especially from parents' perspective, and I certainly don't want to seem unsupportive. They want to do the very best for their child, to ensure they are no longer in pain, and can live as full a life as possible. Perhaps finding a cure is a way for parents to manage their guilt or grief - and I absolutely see how the search is purposeful.
While I support research for potential cures and treatments, it has been hard to be the guineapig for research. The trouble with a rare disease is that treatments are often in research stage, and so we patients are guineapigs.
Carly-Jay Metcalfe was diagnosed with cystic fibrosis at nine weeks of age. Photo: Carly-Jay Metcalfe
I was often recommended 'cures' by holistic and faith healers - these didn't work. I visited many medical conferences as a child - with a promise to find answers and treatments and eventually cures. This was tiring. It had a huge impact on my health (some treatments had bad side effects such as not being able to go out in the sun and my skin peeling in sheets) and also on my esteem - being examined by many doctors was intrusive. I'm so glad my parents listened to me when I said enough.
When a potential cure for my type of Ichthyosis was in the news recently, I shared it with my networks because they might want a cure, but my stance has not changed.
I know this is my experience and beliefs, and others will differ. My advice is to live in the moment and do the best to manage yours and your child's rare disease day to day.
Carly-Jay Metcalfe was diagnosed with cystic fibrosis at nine weeks of age. While she has had a lung transplant, her CF has not disappeared.
She said that talk of a cure got her hopes up, and resulted in devastation when the cure didn't come.
"I was told when I was about six that there would be a cure in about three to five years. I was SO excited - I called up all my friends and they were excited too, of course. But it never materialised, and there were always false promises which just hurt me and made me cynical, never believing that there would be a cure.
"And now I'm 38 - still no cure and there probably won't be in my lifetime. It hurts, it gives false hope and it disappoints. Now I have given up on the prospect of find a cure at all."
Metcalfe says that doctors have to be careful when making promises about research, and advises parents to think twice before exposing their children to false hope.
"People build up these so called 'cures', and every time it doesn't work out, you feel crushed. It's soul destroying, and people need to know that for both themselves and their children", Metcalfe says.
She believes that promise of a cure can impact already fragile health. "With everything we already have to contend and deal with - the dis-ease, the disability, the infections, the pain, the psycho-social aspects - when people begin laying git on thick about different 'cures', it has this cumulative effect that eats away at your soul. It makes you a disbeliever."
However, she still holds out a sliver of hope - though not for her. "I don't want to be a disbeliever - I want to believe that one day there WILL be a cure. I just can't see it in my lifetime", she says.
Dr Saman Moeed, obstetrician and gynaecologist, empathises. "As someone with eczema since childhood, I found it very disheartening that whenever I saw a new doctor, they would invariably say "Well, you know there's no cure for eczema; we just have to manage it"."
She says she would have appreciated it if doctors focused on the positive aspect of managing her condition on a daily basis, instead of providing a long-term prognosis.
"For medical professionals, the challenge is to balance the need for honesty and respect of patient's autonomy against the benefit of offering hope", she says
Clinical research is lengthy, and Dr Moed advises that it can take years, often decades before it can be translated into clinical practice, if at all. "The trouble with sensationalist headlines such as "New hope for Disease X" or "Breakthrough in the search for a cure" is that this is often extrapolated from a scientific presentation at a research meeting or conference, and it will take 5-10 years at least (provided that funding is available and the trials receive ethics approval) for this to become a reality for the patient", she says.
However, many people actively search for a cure, especially if it will improve their current quality of life. Dr Moed says that people are very knowledgeable about their medical conditions, particularly in the internet age, and can make autonomous decisions about their treatment.
Almost eight years ago, thirty year old Louis Rowe was made a paraplegic in a bike accident in Thailand. Since his accident, he's been researching treatment facilities and working hard to walk again. He has shown incredible commitment with extensive physiotherapy and lengthy trips to India to have stem cell treatment.
"When I first had my accident, to look for a cure was just a natural thing to - it's like breaking an arm, you want it it healed", Rowe says.
"Having a complete spinal cord injury means the odds are against me but I have found Dr Shroff in India who I've been seeing for seven years now. It's not a quick fix but everytime I go there something comes back to life. My bowel and bladder function, feeling, movement have returned through this treatment. They are not massive breakthroughs and I'm still no where near being able to walk again but its the small things that make life so much easier and more enjoyable.
"So as long as I see improvements and progress I'll keep on working on my body, and with the way medicine is moving who knows what can happen in the future. I'd like to be ready for it", Rowe says.
Carly Findlay is a writer, speaker, community TV presenter and appearance activist. She blogs at Carlyfindlay.blogspot.com.