Today is Rare Disease Day

Not many people know that and I must admit that I didn't until an email friend recently pointed it out to me.  She ('Susan') wrote to me not long after the 'Dr Google Revisited' post, perhaps to inform me that for some, the Internet is the only source of medical information available.

Rare Disease UK conducted a survey  "Experience of Rare Diseases: An Insight from Patients and Families" in 2010 and some of it will make your hair curl!  Click on the link provided in the summary and you can read a fuller version of the survey

Amongst the findings in the summary are that patients and families affected by rare diseases wait too long for a correct diagnosis (some unfortunate souls wait as long as twenty years).  A worrying number receive the incorrect diagnosis before the final diagnoses and patients and families worry about the level of awareness of rare diseases among healthcare professionals.

Importantly patient organisations play an important role in the diagnosis of, and are often the main or only source of information for rare diseases.

I asked 'Susan' whether she had consulted Dr. Google - for although we have corresponded with each other for nearly two years - I had never asked her before.  With her kind permission I detail extracts from her response.

"Yes I did consult Dr Google, this was during my diagnosis period, but the first reason I did this was because I had been tested for things I had never heard of, and it was never explained to me (what the test was and why and what it was for) - (I thought this was because they were protecting the patient, not wanting to scare me, but later my thoughts were - they don't know!)  This I found quite daunting because I grew up thinking like most, that if you're ill, you go to the doctor or hospital and they make you better!... So I was thrust into a situation of also finding out that doctors don't actually know everything as I had previously thought...

"I googled phaeo (phaeocromocytoma) because when I got home from hospital I saw this written on my letter, (this was a chance viewing as I would never have known what I was being tested for).  I had never heard of such a thing, so curiously I wanted to know what it meant... this was it fact the first time I used Dr Google... so my experience of Dr Google was one of learning and the computer told me more that I need to know, but it also helped me to understand that what was going on with me was unusual and rare.

"I was also lucky that my cardiologist knew of these rare things, as I later found out many doctors have little or no knowledge of rare illnesses..

"Comments actually said to my by the doctors were that my illness was unusual and rare and mysterious and they would have to think about it; they also said there is definitely something going on with you that they have never seen before and were baffled by the intensity and resilient and debilitating tachycardia I was suffering...

"What I did not expect to happen was that they would go away scratching their heads and leave me to face my life with a debilitating rare illness that turned my life upside down.  I do understand that they don't know everything (who does) but I wish they would at least say they don't know and have some empathy with the patients left to live their life with chronic debilitating rare diseases..."

My experience with Dr Google began with the very same search; my consultant informing me that he thought 'it' was one of two things; the first affecting "two glands that secrete hormones" and I should not be on beta blockers - but he would say no more.  It was a simple task to check the contra-indications in the BNF and google the next day.  Perhaps it would have been helpful if we both had been told that "It might be this - but a simple test will rule it out."  I should state that neither 'Susan' nor I had a phaeo.

Due to us sharing a joint (long way down the line) diagnosis, we 'met' through a patient forum and it was on this forum that we began to understand our condition.  Without the Internet we and many others would be totally isolated.

It is sad that many people have had the 'anxiety' label attached in their long journey for a diagnosis - you will see this mentioned at times on the report of the survey - as it is very difficult to get the medical profession to see past this, once attached.

I found my diagnosis on the Internet - but in took a good few months (and a good few consultants) before I was finally listened to.  I realised that I would have to 'admit' to anxiety (even though I knew it incorrect) as it had become a barrier, and once I did, I was listened to.

There are over 6000 recognised rare conditions - some extremely rare and some more 'common' rare conditions and it would be impossible for a doctor to know them all.  But please docs, if a patient persists with "I know something is wrong!" please accept that they may be right!

Anna :o]