We would like to introduce a new guest segment to our blog: ‘Treasure the Exceptions’, which will discuss different aspects to living with rare conditions. All posts under this title will be written by our guest blogger, with information kindly supplied by members of various patient groups, clinicians etc. Whenever possible, permission is sought for direct quotations and anonymity is respected for all.

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Treasure the Exceptions. When it comes to sensory processing: We’re Rare and We Rock.*

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Findacure, like all other organisations that support people with rare conditions, recognise that getting a diagnosis for a rare condition can be a complex, lengthy and costly process. Rare conditions are often misdiagnosed along the way, leading to inappropriate, expensive treatments which may cause damage. Often a stroke of luck is needed, to get a diagnosis. A man in the UK developed Mal de Debarquement Syndrome (also called Disembarkation Syndrome) as a school-boy, following a ‘classic’ train trip motion-trigger. He went undiagnosed for 30 years. Then, after seeing doctor after doctor, he met a nurse working in Occupational Therapy. She recognised the symptoms and asked if he had heard of Disembarkation Syndrome. He then researched MdDS and was diagnosed privately, which cost £200.00. Although there is no cure, he felt relieved to have a name for the condition, at last.

For an overview of MdDS the VEDA site is useful and there are papers available via the Aviation Authority, Dr Timothy Hain etc. This blog also provides insights into this condition, which is described as ‘the intractable devil’ by one of the lead researchers in the USA.

Another researcher describes MdDS as ‘the perfect storm’. For me this is a better description since it highlights that many small factors can build up over the years (eg head injuries and operations) which can predispose us to onset.

After onset, a common early or differential diagnosis for MdDS is ‘vertigo’. But there are many others. One standard diagnostic error is to confuse cause and effect with respect to the situational depression and anxiety that can accrue from developing any episodic or chronic condition involving ataxia.

That some clinicians still say they don’t believe in MdDS or that it doesn’t exist – or, worse, laugh at people when they present with this condition – is unacceptable. A ER nurse who developed MdDS saw an ENT consultant who suggested that she was just ‘anxious’ and told her to go home and drink some wine. Fortunately some medical students from her ward were able to diagnose MdDS, via Wikipedia.

This story, which appeared on the VEDA site, rang true for many of us with MdDS. Not only with respect to the many symptom overlaps, build-up causes and differential diagnoses, but also because of this woman’s experiences at the hands of doctors.

Reading this reminded me of a poignant post on one of the MdDS social media sites which said “Doctors look at me like I’m crazy and can be very cruel.”

This story now brings to mind the words of Megan Fookes, Executive Director of Rare Voices Australia. She says “People living with rare diseases are the health orphans of our society.”

Today I am celebrating because a woman with MdDS in Australia has been invited to co-author a book with one of the researchers there. I don’t know if this is a ‘first’ for us orphans. But it sets the gold standard for future dialogue between rare voices, academia and medicine.

*This is the logo for a new group (founded by our blogger) which was established to campaign for people with MdDS in the UK. This group is supported by a mentorship scheme run by Findacure.

Disclaimer: This post is the intellectual property of our guest blogger and cannot be reproduced without permission from the author. All comments and opinions are those of the blogger, and may not reflect Findacure, or our affiliates.