We can do better for rare diseases in the Nordics

Although these diseases are called rare, about 1 million people have a rare disease diagnosis in the Nordic countries. Many of the patients, or their parents, experience a struggle to get the diagnosis in time, be fully understood by the health care providers, and to get access to medicines that can improve their lives.

Martin Ramström, Regional Director Nordic and Baltic at Immedica Pharma, lists three improvement areas to increase the quality of life for people with rare diseases.

Earlier diagnosis an opportunity for a better life

A criterion for a rare disease is that, if untreated, it often leads to extensive disability and a significantly lower quality of life. Therefore, it is necessary to be able to start treatment as soon as possible to minimize the impact the disease has on an affected child. But that is not always the case. The unfortunate reality is that rare diseases often go undiagnosed for extended periods because patients, families, and physicians have limited awareness and knowledge of the disease. 

– It must be very frustrating for parents to think that if only the diagnosis had been confirmed earlier, the outcome would probably have been very different, Martin Ramström says.

Symptoms may not always be evident to a doctor who never has encountered a patient with a specific rare disease. There are approximately 7.000 different rare diseases. Understandably physicians cannot know everything, and we need to find new, faster ways of diagnosing to reduce unnecessary suffering.

Use the real experts

Who knows more about living with a rare disease than the patient and their families? For example, parents to a child with a rare illness have unique knowledge that could be of significant use to a much greater extent. Politicians, payers, pharmaceutical companies and healthcare professionals would win by engaging patients as experts and creative forces. Let the true experts in on all necessary levels to make decisions about increasing knowledge, resources, and strategies to improve the living conditions for people with rare diseases.

Access to innovations without delay

There is a considerable need for new medicines to help improve the situation for patients with rare disease. Unfortunately, today’s model for introducing new drugs in healthcare does not fit rare diseases. The systems do not consider the requirements for many rare diseases. For example, data from clinical trials are often less extensive than usual. The increased uncertainty that exists naturally for a smaller patient population creates a barrier to access. Consequence: Either access to patients is dramatically delayed or entirely blocked. Better access models need to be built that better support innovations for the benefit of patients, parents, and society.

Gratifyingly, there is a strong driving force to change how we manage rare diseases in the health care system, especially among dedicated patient representatives and many politicians in the Nordic region. There was positive news from the Swedish Parliament earlier this week. It is decided to develop a specific national strategy and a specific financing model for the introduction of rare disease medicines. Denmark, Norway and Finland have already national plans for rare diseases in place.

– It is not rare to live with a rare disease. There are about one million people in the Nordic region who do this. We need to improve the conditions for patients and families living with a rare disease, concludes Martin Ramström.