Rare diseases need a generic approachBMJ 2006; 333 doi: https://doi.org/10.1136/bmj.333.7568.602-a (Published 14 September 2006) Cite this as: BMJ 2006;333:602
All rapid responses
I would whole heartedly agree with your findings of the Report.
Even with a diagnosis - there has been considerable delay in my
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
it is often the patients themselves that know far more about the condition
than the doctors themselves. In some cases, having to correct,
and consultants and describing said condition, it is less of a problem 12
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
well as listening to the patient. In my condition - there are 64 pages
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
discplinary team in one clinic to avoid numerous clinic visits because of
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
start of the diagnosis.
There is no real excuse for not knowing in 2006 - it is researching
providing the right information and a bit of thought into the matter -
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,
should have to diagnose their problems. I just wish I had the team 12
ago that I now have.
GP's have little time and talking about syndromes and in some cases
understand it. Talking about it in 10 minutes isn't easy - it is often a
one thing at a clinic visit and stiking to that GP then a clinical picture
history develops over time. The GP taking advice from the specialist.
Competing interests: No competing interests