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LETTERS:
Timothy P Senior and Andrew W Knight
Rare diseases need a generic approach
BMJ 2006; 333: 602-a [Full text]
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[Read Rapid Response] Rare Diseases - A Generic Approach
Fiona Woollard   (23 September 2006)

Rare Diseases - A Generic Approach 23 September 2006
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Fiona Woollard,
BA (Hons) Med Sec Dip
YO24 1EP

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Re: Rare Diseases - A Generic Approach

I would whole heartedly agree with your findings of the Report.

Even with a diagnosis - there has been considerable delay in my treatment because of a 'mistake' by a genetic specialist and the failure to provide information relating to me as an individual.

Information incidentally about Rare Diseases are found in support groups and it is often the patients themselves that know far more about the condition than the doctors themselves. In some cases, having to correct, specialists and consultants and describing said condition, it is less of a problem 12 years later when consultants are frequently using I.T. as part of their work. Medline or the Internet whilst being a danger can be of enormous benefit as well as listening to the patient. In my condition - there are 64 pages of citations on Medline, a number of books, worldwide conferences and websites! Google is a fine search engine!!! Seek and you will find!!

I am lucky that my care is managed by a team of individuals who are experienced in my condition and treatment should have been commenced or considered by the genetic specialist. However, I would like to see a multi- discplinary team in one clinic to avoid numerous clinic visits because of the associated symptoms of the syndrome. I am sure that this scenario would cost the NHS less in the long-term by reduced consultant and secretarial time, paper, the number of clinic appointments and repeated tests and for the patient less time off work.

Communication between genetic specialist, GP and other specialists would have helped enormously through multi-disciplinary teams managed by a genetic specialist who has access to other specialist input right from the start of the diagnosis.

There is no real excuse for not knowing in 2006 - it is researching it and providing the right information and a bit of thought into the matter - these are not straightforward patients. What is worse is getting the diagnosis wrong and saying that you are a carrier when there is no such thing.

However, standard frameworks, pathways of care from cradle to grave essential for the proper managing of one's care to avoid unnecessary tests and investigations and managed by one consultant and to ensure that it is smoothly implemented to avoid anxiety and stress. Patient's should not have to trawl the Internet to obtain information about their condition, nor should have to diagnose their problems. I just wish I had the team 12 years ago that I now have.

GP's have little time and talking about syndromes and in some cases do not understand it. Talking about it in 10 minutes isn't easy - it is often a case of one thing at a clinic visit and stiking to that GP then a clinical picture and history develops over time. The GP taking advice from the specialist.

Competing interests: None declared