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In the wake of Undiagnosed Children’s Day, which took place on Friday 27th April, guest blogger Polly Moyer has written this week’s article on the mistreatment and psychological consequences of being undiagnosed.

Many people who are still waiting for a diagnosis will have experienced misdiagnosis and mistreatment.  Sometimes the mistreatment takes the form of medications given on the basis of the misdiagnoses (there’s often more than one) which could have a negative impact and potentially impede progress once an accurate diagnosis is reached.  Sometimes the mistreatment is also psychological and results from some doctors assuming that normal test results mean that nothing is wrong with their patient and, therefore, dismissing the symptoms – and them.  The inference (implicit or explicit) from some clinicians that the symptoms are caused by psychogenic/psychological factors is, unfortunately, still reported.  In my view this does a disservice both to patients and other, more thorough and determined, doctors.

(1) Being undiagnosed is bad enough – none of us need to get funny looks from doctors, to have symptoms disregarded or to be made to feel that it is our fault that we are unwell.

I can only imagine how much psychological damage occurs for parents or carers of undiagnosed children, especially if there has been doubt over the validity of the symptoms.  I am relieved that there are organisations in the UK which support families while they wait for someone with the relevant professional expertise to join their team, either by providing that elusive  diagnosis or by changing the symptom management landscape – preferably both.  Whilst it is well-known that ending the diagnostic odyssey does not mean that our struggles are over, it can help patients – at last – feel validated.

(2) Likewise it can empower them to access other families and individuals facing similar struggles.

Without a diagnosis it can feel that we are lost in the system, falling through the gaps and left to cope alone. Without a diagnosis it can also be challenging to get support in real life with schooling, home life and in our careers.

But the hardship of being undiagnosed doesn’t end there.  Instinctively patients know that, once they are diagnosed, their data could be useful for others in a similar situation, especially if gathering and studying it could lead to the development of treatment options.  Not being empowered to participate in surveys and trials that could enhance or prolong life for others means we can’t ‘pay it forwards’ and I’ve never encountered a rare conditions patient who doesn’t want to do that.  Even if patients know it won’t help them, personally, the impetus to support research and development is strong and seems healthy on all levels.

So I call on all clinicians to put their assumptions about so-called ‘medically unexplained’ or ‘functional’ symptoms to one side, not let anyone become lost in the system, re-open cold cases as diagnostic testing equipment becomes more sophisticated and work with their patients and other professionals to establish a working diagnosis.

It’s said that ‘undiagnosed is a diagnosis’ but it’s not one anyone should have to live with for long.  It is a no-man’s land of uncertainty and can feel like a hostile place to be.



by Guest Contributer time to read: 2 min