The Uphill Struggle Combating Rare Diseases

Dr. Gábor Pogány giving a presentation.

Being a patient is never easy but being one suffering from a rare disease is even more of a struggle. These conditions are hard to recognize and are often misdiagnosed, thus many are treated incorrectly. Often it takes years or even decades until patients get a correct diagnosis.  

Research and development of drugs for rare diseases is said to be more expensive (there are heated debates about the actual R&D costs of all kinds of pharmaceuticals and the lack of transparency).  

But thanks to some incentives – the EU passed legislation in the field ten years ago – developing them does make more business sense now. Also, due to their high price, these drugs can end up being quite profitable, despite benefitting only a small fraction of the population.

Besides financial dilemmas, there are the social aspects of drugs. It is important to keep expectations regarding the introduction of a new drug realistic, as long-awaited treatments may prove efficient only for a small circle of patients, PharmaOnline quoted Judit Molnár Mária, director of the Institute of Genomic Medicine and Rare Disorders of Semmelweis University, as saying at a recent conference on rare diseases.

Coordination is Key

“Better financing, better access to drugs, a comprehensive database – they are all needed to improve the lives of those living with a rare disease. Yet what we are striving for the most at the moment for all the above to happen is coordination,” Gábor Pogány, president of the Hungarian Federation of People with Rare and Congenital Diseases (RIROSZ) tells the Budapest Business Journal.  

More than any other field, the treatment of rare diseases is impacted by a lack of information within healthcare and in all related sectors. This is an issue as roughly 94% of rare diseases are non-curable at this point, Pogány notes, although he does add that there has been some recent improvement.  

So, when healthcare cannot provide a solution, it is the social system’s responsibility to ensure that the quality of life of these people is maintained as best as possible. It is just as much a matter of housing, education and employment as it is of healthcare.  

Based on international practice, the solution would be to centralize this field. Yet no nation is wealthy enough to be able to do that, Pogány adds. Therefore, regional and even continental centers are being created to deal with these tasks.  

The so-called European Reference Networks provide information and a point of reference to families and professionals who also have difficulty when, for example, they want to refer a patient to an institute or for further care.  

Patient Pathways

Using funds from the Norway Grants, RIROSZ has set up an information and call center to help people.  

“We are helping to manage patient pathways, but our capacities are limited,” Pogány says.

As an example of a “fully-fledged” resource center, he cites the Norwegian Frambu Center where, upon being informed about a diagnosis, the patient’s entire family is invited to the center.  

“They spend a few days in there with professionals who basically teach them how to lead a life with a patient,” Pogány explains.

Many Western European countries, including Norway, Sweden, the Netherlands, Spain, and Portugal, have a reference center. In this region, Romania and Croatia have them. RIROSZ is working on upgrading its center, but it will take time.  

“We joined several EU programs, we also have a method as to how to transfer an integrated care model, like a resource center to another country. A team of experts has also been set up: economists, social scientists, special education teachers, etc. who work together. The federation would rely on EU funds to finance the initiative. There will likely be funds allocated to this purpose in the next seven-year package from 2020,” Pogány says.  

But even if financing is secured, there is still a lot to do. This field requires very complex knowledge so experts must be trained and their know-how must be approved by physicians as well, Pogány says. Doctors also have to understand and accept the advice of these specialists. “A new cooperation culture must be developed.”

How Rare is Rare?

To date, around 6,000-8,000 rare diseases have been identified. In the European Union, disorders occurring in fewer than one in 2,000 Europeans fall into this category. However, in total, these conditions end up being quite wide spread, as they affect an estimated 25-30 million people in Europe. In Hungary, more than half a million people are affected by some rare disease, or 6-8% of the population. In an average family practice of 1,500-2,000 people, there are 120 rare patients based on a test study by the Hungarian Federation of People with Rare and Congenital Diseases. However, the doctor and the patient are often unaware of total numbers. Of the rare diseases, only a few hundred have a unique identifying code. As a result, they remain “invisible” to the social security system. There are no rare disease patient registers either, which explains why there is so much discrepancy between official figures. Officially social security spending on medicines for people with rare diseases totals about HUF 500 billion annually.