Monday, 28 February 2011

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]


ned ludd carer said...

My son has been profoundly disabled since birth. He's 28 now. He doesn't have a rare condition - he's undiagnosed. We were informed by a consultant many years ago that about a third of people born with neurological conditions are undiagnosed. We've had all the tests, screenings etc.. We use cerebral palsy and quadraplegia as labels but it's more to describe than diagnose. I think we're past diagnosis now as there doesn't appear to be any treatment anyway. What matters is management of the condition/symptoms and these aren't going to change just because we get a label.

Anonymous said...

Rare diseases are rare and doctors don't know about them..........? Well, no shit Sherlock!

I think this has to come under the heading 'lifes a bitch'.

600 respondents to a survey does not sound like a good enough database to be making too many judgments, it sounds more like a pilot.

HyperCRYPTICal said...

Thank you for your comments Ned and Anonymous

Ned: You are of course correct that management of the condition/symptoms are more important than a label when a condition is self-evident.
However it must be said that all conditions cannot be 'seen'. It then becomes very important to have a label attached - not necessarily that of a rare condition - when you know something is wrong.

Anonymous: You are correct on all counts. Whether a pilot or not - the respondents are allowed a voice and judgements can only be made on their responses. Whether the reponses are truly representative of all patients and families with rare conditions - I don't know. Nevertheless, the responses would indicate that there are problems with support and a lack of information - leading to a sense of isolation - and for them, life is truly a bitch.

Speak to me more please.

Anna :o]

Anonymous said...

I Suffer with a debilitating rare condition and support groups are a life line to myself and many others, with their help they are trying to bring awareness to medics and general public and patients, I feel they do a good all round job of striving for betterment.

The internet, websites and charity organisations are growing simply because it’s the 21st century, people are better informed than they have ever been I have not met a person yet who has not been helped by the support of others in the same situation,

I feel we all learn together along the way, things change but they change slowly, I am sure those who are suffering from diseases rare or otherwise, appreciate all the help they can get and life does suck for people who feel unwell 24/7 and have a poor quality of life,

Thank you for highlighting interesting issues


HyperCRYPTICal said...

Thanks for your comment Pamela.

I agreee that the internet has much to offer in respect of information regarding rare and indeed, any medical condition.

It is a sad fact that we remain isolated even when diagnosed. The internet has been in a sense, my lifeline - in respect of knowledge and support gained.

This post has attracted many visits and I would urge anyone in Pamela's situation to leave a comment. It is your chance to be heard.

Anna :o]

Stephanie Hunt -- Mrs.Michigan America 2010 said...

A rare disease isn't rare when it affects someone we love!