I Hope you are well and pain free.
Well, it has been a little while since we last spoke, and for that I do offer my apologies, however that is not to say exciting things have not happened, because we have some fantastic news. back in July I contacted many Genetics labs around the country asking for any information regarding research currently being undertaken with regards to Dercum’s Disease, and in reality the general consensus i met with was “Not at this time.” (as is the case with most rare illnesses nothing was being carried out due to the rarity of the condition Hence why so many charities and support groups try and dedicate their time and resources to raising funds that can in some way be used towards the much needed research).
I did however get a couple of very favourable responses that I will share below
This is the initial e-mail that was sent out :
Please let me introduce myself
My Name is John Steward and I am the Vice Chairman of an Essex based Charitable Foundation Known as
the Dercum’s Disease and Rare Disease Foundation UK (DDRDF) Registered Charity 1154613.
I am simply writing to you to ask if you may know of any recent studies that may have been carried out with regards to this horrible disease.
We are trying to raise money to help fund genetic research into discovering more about this heinous illness, which will lead eventually into the effective treatment and eventual prevention of this illness, as far as I can make out the United kingdom have done very little research into this illness as there appears to be a vast misunderstanding of how many actual people are suffering with Dercums Disease ( the Daily Mail quite incorrectly stated there were only 22 diagnosed cases in the UK).
Currently the most prevalent medical expert on Dercums is Dr Karen Herbst based in the United states
I have attached a link to a recent article click here
This foundation was set up in 2012 by my Mother, Mrs Patricia Bissessur who is the Chair Woman of our Foundation. She has suffered Dercums Disease for many years, which is how we know this illness is largely being ignored by the medical world, from Geneticists down to the General Practitioners. This is so close to our hearts,as myself, my brother and my sister are all showing signs of the disease, which we are all dealing with, however we are not our main concern. We are well aware that a cure is neither being sought after or nearing discovery in our lifetime. ( I wish that I were wrong in this) Funding is simply not being issued for the sorely needed research, however we ARE concerned that we do NOT want our children and their children to suffer as my mother and countless others are suffering, and in truth how we are destined to suffer with the onset of this illness.
What I am asking for in essence is help, not monetary obviously, but information as to who we would need to contact if not you, would you know of any scientists or researchers that would like to rally to our cause, and how we could instill raised funds to start a project to study this illness as well as any other related syndromes or diseases associated with these very painful conditions.As you are probably well aware there are many related illnesses
This is the response I received from Mr David Savage
Dear Mr Steward
My colleague, Professor Farooqi, passed your email on to me as my group has a long standing interest in another rare adipose tissue disease known as lipodystrophy. As you suggest, there are no groups specifically working on Dercum’s disease in the UK currently – it’s rarity means that it would be very tough to get funding to do this work. Our group has a specific interest in lipodystrophy and particularly the genetic causes of this condition and its molecular basis. As a result of this work, we have been referred a few people with Dercum’s disease over the years. Karen Herbst (who I don’t know personally but whose work I am aware of) is one of the only people I have heard about with a specialist interest in Dercum’s.
So, unfortunately I cannot promise to changing the focus of our work, but I would be willing to consider trying to help you identify the genetic cause of the disease in your family. We can now test all the genes in the genetic code and may (no guarantees and it can take years/even decades) then be able to identify a genetic variant causing the illness. This could be useful in triggering research in the area. To do this we would need blood samples from several affected and unaffected people in your family and obviously their consent etc. We would also need to be absolutely certain who has the disease and who does not.
I am very sorry this is such a challenging problem for you and others, and would be happy to discuss this sometime. However, I am leaving for a meeting in the US later this week and will then be away on vacation until the end of the month.
As I’m sure you will agree this is all very promising.
Our appointment was made with Dr Savage and Claire Adams at:
University of Cambridge Metabolic Research Laboratories
Wellcome Trust-MRC Institute of Metabolic Science
Level 4, Box 289
Addenbrooke’s Treatment Centre
Cambridge, CB2 OQQ for 22nd of October 2015.
This is what took place.
We arrived at Addenbrookes at 10 am and I can only describe the hospital as a metropolis, it is absolutely massive
We were instructed to go to the Acci Building level six. The Welcome trust Research facility. where we were met by Claire Adams (who is the severe Diabetes and resistance nurse and assistant to Dr Savage).
after a couple of minutes we were all joined by Dr Savage who informed us of his qualifications and what he does within the hospital in truth in his own words he is more a scientist rather than a doctor, he also admitted that he has only really skirted over Dercums disease. Due to it’s rarity these genetic labs find it very difficult to map the genome and it’s origins, as it tends to be seen as more of a one off and like most sufferers have found the only place that has some modicum of knowledge is the all powerful Google ,which then sends you to Wikipedia, Dr Herbst or one of the support groups ( who are fantastic by the way), unfortunately for them, us and all sufferers of these illnesses it seems that older research is just being re-hashed and re-distributed. and again we go in the vicious circle of knowing something yet knowing nothing.
As I have stated elsewhere and to many other people with regards to Dercums i feel as sufferers of this illness that most if not all are the highest educated when it comes to the research of the illness and are extremely tenacious at getting an idea of what is going on, but what none of us know is why?!?
As Dr Savage explained to us, over the years he has seen so few people with this condition it is very hard to verify the cause, simply because it is very hard to look into family history etc. Until recently it was thought that Dercums only tended to affect middle aged or older women, or the sufferers were simply misdiagnosed and that as they were singular cases the genetic origin was nigh on impossible to map or find. Now this is where (in a macabre sort of way) we have been fortunate as not only does My Mother Patricia, my brother George, my sister Kerry and myself show signs of the disease (My Mother Patricia has suffered with the full onslaught for years) other members of the family i.e uncle and aunt as well as cousin have been diagnosed with Dercums, so they have a full gene-pool to work with. They have asked us to get our relatives that are suffering with the illness to consent to blood samples, as well as my paternal side of the family as this is very important so that is in progress at the moment.
Dr savage has also stated that he is going to contact Dr Herbst and discuss any findings with her and have discussions with her as to what her findings have been and try to take the next step with all of this.
As was made abundantly clear this is in no way a leap towards a cure, but a simple small step towards the understanding of the illness because how can you battle something without first understanding it.
As far as mapping the family genes and DNA it can take years even decades to complete, as I’m sure you will all agree this is still a huge leap forward
Bloods have now been taken and each of us were examined by Dr Savage as to how and in what way we suffer the illness the results have been sent away to be analysed, We spent a good two-three hours with Dr Savage and Claire and To be brutally honest they are two of the nicest professional people you would wish to meet, and we are very fortunate that they are already working in the field of Lipomas so we are not the huge diversion that most of the genetic labs seemed to think we were, It is wonderful that we now have some of the medical profession on our side, so much happened during this meeting,so I will update as time goes on 🙂
Warm hugs to you all
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