BL Society of Rare Diseases is a new society at Barts and the London School of Medicine and Dentistry that aims to educate future doctors about rare diseases. 3.5 million people in the UK suffer from a rare disease, 75% of whom are children, and often these diseases are life threatening or are associated with huge delays in diagnosis leading to poorer outcomes and psychological trauma for the sufferers and their families. The aim of our talks is to teach medical students that although the doctrine of ‘common things are common’ is vital in clinical medicine, we should all keep rare diseases in the back of our minds! It’s not about spotting each individual disease but knowing when you should suspect a rare disease based on a thorough history and examination.
So far in this academic year we have organised 3 speakers to come in and talk to our students. The first talk, held on 10th October 2013, was by Pat Roberts, chair of the UK Patient Advocates for Newborn Screening Group (PANS) and Prof Jim Bonham, who is the Project Lead for the recent pilot that looked at extending newborn screening in the UK to include maple syrup urine disease, homocystinuria, isovaleric acidaemia, glutaric aciduria type 1 and long chain hydroxyacyl CoA dehydrogenase deficiency. Pat shared her own experience with having a grandchild with the inherited metabolic disorder Krabbes, whilst Prof Bonham took us through the history of newborn screening and results from the pilot.
Our second talk was given by Prof Judson, head of the Sarcoma Unit at the Royal Marsden Hospital in London, and patient Graham Bound who shared his own journey with sarcoma. This was a highly educational evening with Prof Judson giving us some important tips in how to spot sarcoma and we were really privileged to have had Graham share his very insightful personal experience with this disease.
Our next talk is coming up on the 19th March and it will be given by Consultant neurologist Dr Rees who will be talking to us about Paraneoplastic Syndrome, a rare group of neurological disorders associated with cancer. If caught on time, management and outcomes can be significantly better however this cannot happen if w , as future clinicians, do not know what to look out for.
We are also very excited about our upcoming Symposium entitled ‘The 2nd UNUSUAL SUSPECTS’ which is an afternoon of 5 talks given by clinicians from a range of specialities and some patients. This event has been organised as a collaboration between all 5 London medical schools and it will be held at the prestigious Royal Society of Medicine. We hope that the location and the inclusion of all of the London medical schools will encourage an excellent turnout for both students and clinicians and therefore spread the word about the importance of rare diseases!
To keep up date with all news and future events you can follow us on twitter at #BLRareDiseases and if you’d like to get in touch drop us an email on firstname.lastname@example.org!
The society has been well supported by the Vice Principle of QMUL, Professor Richard Trembath, with a special mention in his Rites of Passage speech at Graduation this year.
For more information on rare diseases at Barts and the London click here.