I’m just back from the Partnering for Cures conference in New York (www.partneringforcures.org), where we were presenting our international findAKUre project on Alkaptonuria and trying to raise funds for our plans for new clinical trials for treatments. (You can download our presentation here: http://www.partneringforcures.org/2010_innovators/18_findAKUre.html).
The conference, organised by the Faster Cures action tank, was impressive. It brought together more than 650 participants from a wide range of sectors: non-profit foundations, businesses, patient groups, pharma companies, biotech companies, philanthropists, the FDA, the NIH, journalists and a host of others. It was a wonderful mix of people: lots of energy and commitment to finding cures to untreated conditions.
Discussions centred around how to accelerate the drug discovery process. How do you foster greater innovation in a context that values safety and avoids risk? How do you find the funding needed for drug discovery that can take years? What are the new business models that can bring about successful new drugs?
There weren’t any clear answers. In fact, at times the debate was rather downbeat. Many people said the system is broken: regulatory approval takes too long, drug discovery is too haphazard, the risk of lawsuits is too high.
That’s why some people pointed to rare diseases as a sector of hope and opportunity: massively underfunded but with huge potential for significant breakthroughs. It was good to see a growing recognition that research into rare diseases also has major implications for understanding common disorders.
I came away inspired by the people I met, but seriously aware about how much still needs to be achieved for the rare disease sector. I was expecting much more US foundations and philanthropists to be interested in rare diseases, yet found very few. I met a number of hard working US-based rare disease groups who are struggling for funds to finance potentially life-saving research programmes and clinical trials.
Then there’s the millions of people affected by rare diseases in developing countries. Very little is being done to help them. I once spoke to a leading scientist in global health who says nothing should be done about rare diseases in poor countries: the focus should be on common diseases, he says.
I’m not sure I agree with him. Even though most rare diseases don’t have treatments, that’s not a reason to abandon rare disease patients to their fate, wherever they may be. A programme to identify rare disease patients in specific developing countries would take many years to implement, by which time more affordable treatments could be available for them.
So the battle for rare diseases is far from over. I come back to the UK convinced that we need to put even more effort and resources into this sector – for the sake of everyone affected by rare diseases.
Nick and Those Who Have An Interest In Cures for Rare Diseases
I agree a 100% we all need a faster solution to finding a cure or at least medicines that can the control the disease from causing damage that cannot be reversed, but in the USA lawsuits are a problem we are faced with over the smallest issues.
We want answers and a cure, but if a new medicine or even an idea fails people sue. This stops ALL entities from wanting to spend money and ones time in pursuing many avenues researching for a cure. One hears we need to weigh the risks versus the benefits…it is a subtle way of saying this medicine may hurt one more than help because there are not enough clinical studies done in many cases to have a protocol established. Therefore, the doctors only option is to use whatever information he has to use to try to stop further damage with an off-label medicine. The patient has to pay out of pocket, as it is not approved for their disease or if they do nothing the only option might be they die in some cases. The insurance company is not willing to keep paying for so many expenses, as most people with rare diseases have a lot of medical claims and have a hard time with their insurance or Disability.
Therefore, right now for the majority of us it is all a guessing game and to find a cure faster one has to have clinical studies and people need to be a part of them and take the risk without suing. Basically, the laws need to be changed to avoid petty lawsuits for rare diseases. It would help spend up the process in my opinion. It might help in finding funding also, as they do not want to be part of lawsuits either.
Money is always an issue, but what about doing something ourselves to help by being involved and helping the cause by being a part of fund raising, studies and not expecting some else to always take the risk. One needs to balance this by saying know what the study is and understand the risks first before getting involved, as not all people are canidates. Read about it and research what medicine they are using, basically use wisdom and always a reputable medical facility.
I have a rare disease and I have it severely. I am trying to do everything possible to raise awareness and support for those who are trying to help by researching it and promoting those who are doing studies on the disease. I cannot share to much with others if I even speak to them because currently they could sue me if what I share with them and it did not provide the same results or hurt them in some way, when it helped me.
Honestly, we all want a solution but it is finding the path to get there with the way the systems are set up currently, we need to see a change. I know I can only see a small piece of the puzzle ,as I live in in a state with laws and in a country that has laws that vary from everyone else. I write even if my sight is very poor and at one time I was able to write without any errors, but I have faith this will change and with the help all of us with rare diseases and others a cure for all rare diseases will be found sooner. Thank you for this topic and your work in raising awareness is brought to the right people to make changes,
People (physicians) respond most comfortably when you (the patient) can be placed in a diagnostic bucket they are familiar with. In my case the inborn error of metabolism diagnosed as the potential center of my health challenges has multiple faces and I see multiple specialist who do not understand this systemic disease. One of my neurologist commented, “no interest, no money”. My next neurologist constantly reminds me he works in a clinic not research.
What is left? We the patient must question and continually push for answers. When not offered keep pushing. I was told my condition is extremely rare. In fact so rare when I volunteered myself to NORD’s 1 in a million campaign a few years back I was turned down. But also because I was not employed. I thought NORD’s reasoning was interesting….Anyone else with similar experiences?