Muscular Dystrophy: Representing Rare Diseases and the Problem of Unaffordable Therapies
It’s called a rare disease any kind of condition that affects a number that is less than or equal to 200,000 Americans. Rare diseases are commonly over-looked by the community because not much people suffer from them, but most of the symptoms and signals said diseases cause will leave a surprised look on people’s faces when they see someone suffering from them on the street. People with rare diseases can be called a small community, and being its representative is a real challenge. Such is the case of Paul Melmeyer, who is in charge of representing nearly 7,000 different diseases affecting around 30 million Americans.
Paul is the director of federal policy at the National Organization for Rare Disorders (NORD). This association was founded in 1983 with the main purpose of representing those suffering from rare disease in the country. Within Paul’s duties, we can name the following:
- Representing rare disease patients in Washington
- Having regular meetings with officials of the U.S Food and Drug administration as well as other institutions with any kind of financial safety extending to disabled Americans
- Engaging with regulatory agencies and lawmakers
NORD is not an isolated association, and there are many other associations acting in union to NORD. The main role of all these associations is to represent and support rare disease patients. According to NORD, there are more than 260 non-profit memberswith the lead goal of finding cures for all these rare diseases. These organizations that are part of NORD can go from very large and influential associations while others can be small and cater, especially those ones in charge of representing very rare diseases with only a few hundred people affected. In order to become part of NORD, small organizations will have to pay $50 per year.
Money is not enough for useful and innovative research
Paul highlights the lack of resources these institutions are facing. Stating that only a handful of people are aware of the level of resources destined to rare diseases, the researches required in order to find their cures, and determining what causes them. Nevertheless, Paul Melmeyer has achieved some excellent goals during his career as a director of NORD. Some of them include:
- An injectable hormone that helps in their growing process called Norditropin
- A myeloma therapy called Revlimid
- Oral powder meant to treat people with homocystinuria called Cystadane
However, there is a current need to develop treatment and therapies for patients of diseases such as Duchenne muscular dystrophy which are impossible to be treated without an insurance or something of the like due to the cost of the treatment. A great example is the injectable drug developed in order to help patients with Duchenne. The therapy works by decreasing inflammation and reducing the over-activity immune system triggers.
There are two different point of views regarding these types of treatments, says Paul. A major part of the people who need to buy them for a relative feel frustrated by the cost, but on the other hand there are many defenders asking NORD to ensure innovation regardless of the final cost of the medicine. But the needs for improvement are not limited to treatments and medicines used on, even for diagnosis there’s a need for improvement. As rare diseases are unknown even in the medicine community, it usually requires more than a couple of visits before they reach the right diagnosis.When it comes to rare diseases, there is an 80% coming from genes. Most of these genetic illnesses show up during the first stages of life, nevertheless there are some older people with these issues as well.
How do they raise funds?
In order to raise funds, NORD receive individual donations (actually the most common and important. There are also some foundations and pharmaceutical companies collaborating for the cause. However, the price of the drugs and treatments developed here are not NORD’s responsibility, it’s actually imposed by other companies and organizations. At least, the landscape for NORD has been improving with substantial increases and top quality development being done the last 10 years. Even though it’s very tough working on a product that may not be accessible for most people, innovations are required if anyone wants to reach a definite solution to these rare diseases.
The big debate right now is only about the prices of the solutions being developed by researchers. For instance, Exondys 51, that drug developed to treat Duchenne costs more than $300,000 per year. An amount far from what insurers pay. What Paul proposes is a policy that is more comprehensive with people needing these treatments. With the hope of having some kind of change in the U.S. pricing system. Looking forward other possibilities and opportunities that can enable patients’ access these treatments is a matter of critical importance right now. A more affordable price in these types of treatment would be the best option for both, patients and developers. Making therapies affordable for patients will ensure a number of benefits to pharmaceutical companies. Having a product in your stocks that is not competing with anything else in the market is an excellent idea that assures sales.
Collecting money
These drugs, also called orphan drugs guarantee an improvement in the quality of life of these kids with rare diseases. Making therapies approachable for anyone with a relative suffering from any periodical job. The amount of rare diseases can be as big as 8,000 and new diagnoses, therapies and ways to treat it are prescribed as medical community is aware of how unaffordable new methods are for most of the population.
Even though what’s gathered as a monthly fee for organizations being part of NORD, the amount collected is nowhere near the price of the medicines, so major raising is required because as pharmaceutical developers are the one funding most of the percentage then it’s important to do a counter-part to this. When it comes to ideas for collecting money and raising funds, there are many different options. Relatives of people with rare diseases come up with very imaginative solutions and different ways to raise funds. Such is the case of Duchenne and the trek to Mount Everest looking forward raising at least $1,000 from each participant.
