Rare conditions can be challenging for our doctors because, as everyone reading this will know, most of these diseases have no treatments or cures. Doctors want to help us get well and be able to reassure us that we will. This isn’t an option for many rare conditions patients, much as we wish it was.
All the same, our GPs can play a major role in our healthcare and our search for answers. Here’s how my doctor helps:
- She knows that everything she learns about rare conditions will help improve her knowledge about more common conditions. She soaks up as much information as she can and is grateful for it. Even when I am feeling rotten, her attitude makes life bearable.
- She understands that I need to know what caused me to be susceptible to getting a rare condition in the first place and helps me explore issues from my medical history to look for clues. When I joined the practice they asked me if I had any significant medical history. I said ‘Even the lead researchers are not sure about this, so I can’t help you. Sorry.’ Now, I could – and I can contribute to the on-going research with this information. My GP knows we may never find all the answers, but that won’t stop us asking the questions.
- As we know, rare conditions are often complex, multi-system diseases that require input from many different specialists. My GP suggests and makes as many referrals as she can for me and helps me do the joined-up thinking afterwards. She knows I call this multi-disciplinary process ‘specialism ping-pong’ and that I don’t enjoy being the ball. We both share the desire for improvements in the ways specialists communicate with each other, with primary care teams and with patients.
- Given that most rare conditions are either genetic or may have a genetic component, she understands my concerns for my nieces and nephews, especially because one of my sisters had similar symptoms for two years. She also shared my frustrations with not being able to get beyond triage with the local genetics team. When I happened to meet a genetics professor at a lecture she asked me to ask my GP to write to her directly, for a consultation. My GP was thrilled and did so – and shared a laugh with me about how the system works/doesn’t work.
- Like many rare diseases patients I’ve been on the receiving end of some bizarre suggestions from clinicians regarding the primary cause of the symptoms. More than once it’s been suggested that they are ‘psychological’. Which is illogical because this approach doesn’t explain either the sudden onset or the long periods of remission I’ve enjoyed. My GP knows that telling anyone that their symptoms result from their psyches is one of the most psychologically damaging things doctors can do to patients. Diagnostic delay is also recognised as being psychologically damaging so when a doctor causes further delays by persuading other doctors that someone has a ‘non-organic’ condition, the harm is greatly compounded.
- My GP supports my efforts to be a rare conditions advocate/activist. She sees the UK rare conditions agencies as models of patient engagement and shares my desire to see these models adopted throughout the NHS.
- There are large gaps in medical knowledge in the field of rare conditions, even amongst the specialists and researchers in some cases. My GP can’t be expected to answer all my questions but that doesn’t stop her from trying. She also recognises and respects patient expertise, which makes a refreshing change.
About this blog
I wrote this in the context of some recent comments written by other people with rare conditions. At one point Rachel, a woman with MdDS, saw a neurologist who told her she was crazy, too young to have the condition and was making up the symptoms. We have to be grateful that he’s retired now, so can’t harm anyone else. But, after over 10 years, Rachel is still waiting to be assessed and diagnosed, despite having a text-book case of the condition. Luke told me that searching for a diagnosis had brought him close to insanity and that he still feels mentally damaged by the process. He found his diagnosis via a newspaper story the size of his thumb.
These histories prompted several more similar accounts of abusive doctors and chance diagnoses via magazines and newspapers. So there are times when I feel we’d be better off not having to engage with doctors at all, other than to read the newspapers in their waiting rooms. People in the Mal de Debarquement Syndrome (MdDS) support groups feel I am very lucky to have found my GP – I couldn’t agree more.
Born (1961) and brought up in Yorkshire I moved to Bristol to attend university. I then worked in outplacement before being recruited to the Civil Service. From there I was seconded to The Prince’s Trust and later worked for CLIC, co-ordinating their teenage support group. My last job was in student services at a post 16 centre. I took an MA in 2010 and am now a self-employed writer and teacher. I am also a qualified Laughter Yoga Facilitator : ) Last year I was fortunate enough to take part in the mentoring scheme run by Findacure. Having a mentor helped me develop the Action for MdDS UK campaign group and become a more effective advocate for all people with rare conditions.