"Fighting
the second Skeleton" is an article about Fibrodysplasia
ossificans progressiva
(FOP for short), a extremely
rare connective
tissue disease
which turns muscles, tendons and ligaments into a solid bone and can
leave sufferers complety immobilised.
FOP
is a genetic disorder so it may appear spontaneously,
but also it can be triggered by episodes of trauma, including knocks
and falls, biopsies and surgery. Because
of that, this disease is also known as
Stone Man Syndrome.
FOP
is one of the rarest known disease even between all rare diseases,
just 700 cases have been confirmed in all the world. But the worst
part of this condition is that there is no cure or approved treatment
for it.
Many
disease like Diabetes or Asthma have many possible treatments, when
one of them doesn't work, there is another one treatment to try. But
with regards to rare diseases, this is not an option because the
patient population is too small to attract the interest of drug
companies. Pharmaceutical companies think these kind of illness are
unprofitable so they decide to focus on other common disorder which
affects more people around the world.
But
I think that majority of rare disease are caused by a single mutation
in one gene, and once you find out where is the problem, it should be
easier to discover a drug for it because scientists know where they
have to focus their attention. So, it just need more research and
development in order to find a cure, or at least to try to find it.
But research requires funding and rare diseases have attracted little
interest from drug companies because traditional drugs are more
profitable than this other rare conditions. But nowadays, I think
this line of investigation is changing because some of the
pharmaceutical companies, who are working on rare disorders, are
gaining more attention from government. But, majority of the research
and development is still supported by public funds, but public system
can not afford all these investigation. So, what is the solution for
this? Maybe one way to solve this problem is increasing the patent
protection or even pass a law to urge drug companies to investigate
some of these rare diseases.
Finally fellows, I would like to know what is your opinion about this issue and what
solution do you suggest to all these people who suffer a rare disease
but they haven't got a drug for them because pharmaceutical companies
think their diseases are unprofitable.
Cristina Fuentes.
http://phenomena.nationalgeographic.com/2015/09/02/fighting-the-second-skeleton/
Pharmaceutical companies devote more efforts on diseases that are more common than rare diseases, it is a fact. I think, from a “logical” point of view, that I find it normal because they’ve a funding so they “have to bet" more money for the research into the diseases which can get more benefit (so, the diseases which can get more benefits aren’t the rare diseases): Yes, the world moves for money.
ReplyDeleteHowever, when a rare disease affects you more closely or maybe your ethics and deontology (which perhaps isn’t as volatile as that of many other people) the person you “wear inside of you” asks to devote more efforts to those diseases that are excluded from the framework in pharmaceutical research to find a treatment for these illness. This is where the conflict begins.
I’m sure that I’d bet on an increase in the research for this marginal group of diseases but probably, the money of this research, wouldn’t be comparable to the other diseases (the majority) because they don’t benefit so many people. Obviously, I clearly think that it should be a focus of discussion by the governments because they can’t be excluded as much as nowadays from pharmaceutical research.
We can't deny that the breakthroughs in the pharmaceutical field are undoubtedly moved by money. These kinds of research are very expensive and the ‘big bosses’ not only want to spend, but they need to make a profit out of their results. So I agree with you, that rare diseases don’t attract as many investors as other diseases that are ‘followed’ by a lot of patients (consumers). This is the cold truth. However, I can’t help thinking that rare conditions, such as FOP, don’t get the attention and monetary help they need simply because people don’t even know they exist. Myself, for instance, had never heard of FOP before. There are a lot of good people in the world, with selfless interests in the health field. I think we should bring awareness for the rare diseases and educate people about them to raise interest.
ReplyDeleteThanks Cristina for this interesting post about FOP. I've already heard about this disease (I think it appeared in Grey's Anatomy) and it's very impressive.
ReplyDeleteI totally agree with my colleagues who have already posted a comment: pharmaceutical companies are moved by money. They invest more money in common diseases such as cancer or diabetes rather than rare diseases. However, as it is said on the link Cristina provided "pharmaceutical companies have increasingly turned their attention to rare diseases in recent years, because, paradoxically, the rare disease market may turn out to be very profitable". How can we explain that?
Most rare diseases are caused by genetic factors and these diseases usually have a systemic effect (diabetes, high blood pressure, anaemia, etc.). Drugs are not only produced to cure disease, but they are also produced to cut down symptoms. So, if a rare disease produces high blood pressure, for instance, pharmaceutical companies can investigate in other mechanisms and drugs that aren't known that may low blood pressure.
At last it's all the same. Pharmaceutical companies are interested in money, not really in health. Nevertheless, it's true that, nowadays, rare diseases, also known as orphan diseases, are now more popular thanks to organisations like FEDER (Federación Española de Enfermedades Raras) in Spain or EURORDIS (European Organisation of Rare Diseases) in Europe. Maybe orphan drugs won't be that "orphan" in a few years.
Adrià.
PS: here you have a link if you want to join a campaign for a European Year for Rare Diseases 2019. There's also a lot of information about rare diseases and their treatment.
http://www.eurordis.org/eyrd2019
Thank you, Adrià. I will follow that page to learn more about rare diseasea.
DeleteThis comment has been removed by the author.
DeleteThere are a lot of diseases which have more prevalence and mortality and because of that there are more helps destined for them. However, the people affected by rare diseases, in spite of being in minority, they should have the same personal attention than the other sick people, because they suffer social rejection and they can’t solve the illness due to the absence of drugs for the treatment.
ReplyDeleteOn the other hand produce a new drug it’s a quite long and expensive process, but it’s unacceptable to have an efficient solution for the illness and don’t use it because the cost is rather elevated. Also we have consider that the production of a new drug reduce the unemployment rate and improve the life expectancy of the sick people.
Without the public and private establishment, the pharmaceutic industry and especially, without the social awareness, the rare diseases will keep being a dramatic situation for the sick person, the family members and for the citizens.
I think that one solution to do the orphan drugs cost-effective, it’s to have a central purse like the insurance company that they can assured a major incident because there are other insured that do not require any assistance because they only pay for the guarantee.
It is quite interesting the discussion that you've brought up, Cristina, and also the the debate arised by our dear fellows.
ReplyDeleteFirst of all I would like to raise concerns on the huge number of other rare diseases that are not that widely known due to its less didactic phatological processes.
Second of all, answering Cristina's concerns, I don't think the solution lays on legally forcing private corporations to focus on rare diseases. Unluckily, human body is vulnerable to thousands of different diseases that require equally study and whose prevalence is largely surpassed. As a legislator how do you force a drug company to invest in a rare disease, ignoring their priorities on more prevalent diseases which could potentially save more lives?
The matter of the topic is raising awareness among the society and afterwards, if the patients benefits are worth investigating, promoting public research on these diseases. Catalonia could be considered a role model because of the campaign of raising money for minor prevalent diseases in La Marató of 2009.
It might sound too pragmatical, but in the medical research field, money has to be spent wisely, achieving the greatest benefit with a reasonable quantity of money invested.
Firs of all, thanks Cristina. This is an extremely important issue that we, as future doctors, must consider.
ReplyDeleteI see two important topics in this text. On the one hand, we have to keep in mind that our sanitary investigation system is practically fully sustained by private pharmaceutical companies. On the other hand, it is necessary to invest in rare-diseases such as FOP, the one exposed by the text. For this aim, it is necessary for the companies to make the research profitable, and that's why they put high prices to the new drugs for rare-diseases.
Nowadays, investigation is seen just like a way of earning money. We need to invest in investigation because if we find the cure for a disease, every country or person will pay for it and we will earn a huge amount of money. But, if private labs do not invest in investigation, who will find the cure for this diseases? We need to make them want to continue investing in medical research and we pay drugs at any price companies ask for.
So, my question is...why do we need private laboratories? If countries could meet all together and decide to invest more money in research, we could work as a net of public laboratories for the global public health system. This is actually just a dream, we live in a world moved by money and politic interests. A world where a person can die from a disease which has a real cure just for not being able to afford the price of drugs. A world that invests more money in drugs which make you thinner than in drugs for rare-diseases. This is our world, and we accept it because it is really difficult to change it.
I accept that I won't change the world by myself, but as soon as we start fighting all together to change it, there will be hope. I decided to study medicine because I wanted to do my best for people's healing. I don't want to heal just whealthy people. I won't "lose" my time studying during ten years just to do what it is expected from me as an occidental doctor. We can change the world, but we need to keep moving and start rebelling in front of this kind of iniquities.
In conclusion, I think that medical reserch should be fully public to avoid economic interest in which affects to people's health. It will be difficult to accomplish it, but I think that a better world for all is possible.
Carlota.
First at all I want to say that this is a controversial issue. On the one hand there are diseases which affect millions of people and it is normal that these sickness have priority in front of the rarest diseases. On the other hand, to invest money only in common illness is unfair and sinful.
ReplyDeleteWhen a person is diagnosed with a rare and chronic illness is like a death sentence. There aren't medication, nobody can tell you the process of the illness and you feel alone because there aren't people with the same sickness.
In some diseases the healing may be cheap and easy but if the laboratories don't invest money in this illness we won't never find the cure. Maybe, the solution for this situation could be to find a panacea for all the diseases which are caused by a gene mutation. However, I have a feeling that it is not going to work due to the enormous difference among mutation mechanism
I strongly believe that the problem is that medical research and investigation are a private business and like all commerce is moved by economic interest. I completely agree with Carlota, I don't understand why the laboratories are private, I strongly believe that the best solution is to turn into a public system and finish with this immoral market.
Coming to the end of the discussion I would like to sum up all my fellows' opinions about this topic (Fighting the second Skeleton) and share with all of you the conclusions I've taken considering all the comments and my own thoughts and feelings about this issue.
ReplyDeleteFirst, Gemma said that it's "logical" for drug companies focus on these disease which are more common and more people are affected by them, because they want to get back their investment and the disorders which give more benefit aren't rare diseases.
Margarida told us that pharmaceutical companies are moved by money and this is the reason why rare diseases don't get attention from these companies. But, in the other hand she also believes that we should bring awareness for the rare diseases and educate people about them to raise interest.
The third one was Adrià, who was agree with our other classmates: pharmaceutical companies are moved by money. But, he added another issue to keep the debate going: nowadays the companies are focusing on rare diseases because these disorders also produce symptoms which are common, so they can make a profit with them. In addition, he introduced the term "orphan disease" which refer to a disease that has not been adopted by the pharmaceutical industry because it provides little financial incentive. At the end, he shared with us a link about a campaign for a European Year for Rare Diseases 2019, a very interesting web to learn more about rare disease.
Isa shared with us her opinion which it's similar to my previous classmates' opinions. She thinks people affected by rare diseases should have the same opportunities than other people affected by common diseases. And the solution will be make rare diseases more cost-effective for pharmaceutical companies.
The person who commented fifth was Jordi and he told us a different point of view: money has to be spent wisely, achieving the greatest benefit and saving more lives, so we shouldn't force any pharmaceutical company to invest in a rare disease. In the other hand, he believes, like my other fellows, that the solution is raising awareness among the society and he names "La Marató" as an example of campaign focus on raising money for minor prevalent diseases. [...]
[...] Carlota introduced one question: "why do we need private laboratories?" and she answer herself with, in my opinion, the best solution for all this problem: make a public research system in order to avoid economic interest which decides who lives and who doesn't. She says that all of us, like a future doctors, should be more worried about health and less about money, so the world will be a better place to live in.
ReplyDeleteFinally, Adela thinks that it's normal for drug companies invest money in those diseases who affect a millions of people, but she also believes that leave rare disease without just an opportunity to find a cure is unfair and sinful. But at the end, she tell us that the best solution for all this problem is turn into a public system the laboratories just like Carlota said.
To conclude, first I would like to say thank you to all my classmates for share with me their opinion and point of view about this issue which I searched because of my interest in FOP, a rare disease who bring me the opportunity to investigate more about rare disease and the drug companies' problems.
It's a fact, when you conduct clinical trials involving rare diseases, you face a set of challenges and which seems to be more important: you face a risk, the risk of focus on a drug which wouldn't give you back your investment.
Successfully obtaining adequate research funding by government agencies and stimulating the interest of biopharmaceutical industry partners are greater problems for researchers involved in rare diseases. Regarding this, The Orphan Drug Act from EEUU is a great initiative to promote the research in rare disease field. This law was enacted in 1983 to provide sponsors incentives to develop promising drugs to treat, prevent, or diagnose rare diseases or conditions affecting less than 200,000 persons in the United States. Maybe, this is the solution provide sponsors incentives in order to make more attractive the rare diseases to drug companies.
Finally, I would like to end with a phrase from Carlota's comment: I won't change the world by myself, but as soon as we start fighting all together to change it, there will be hope.