Medical research has come a long way in the past few decades and momentum needs to continue in order to benefit the many millions of patients who suffer from incurable rare diseases.
“The research is crucial to those living with rare diseases, especially as, for the vast majority, there is still a lack of understanding,” explains Terkel Andersen, the President of EURORDIS – Rare Diseases Europe, an alliance representing 738 rare disease patient organisations, in 65 countries.
Great advancements have been made thanks to the 1999 EU Regulation on Orphan Medicinal Products. “The orphan drug legislation, has done a lot to progress developments in research into rare diseases. We saw an explosion of applications and an exponential interest from pharma companies and we need that to continue,” continues Mr Andersen.
Research isn’t confined to finding cures or treatments
Many patients describe a painful and extensive ‘diagnostic odyssey’ whereby they are sent from specialist to specialist in search of the right diagnosis. All the time they waste without a diagnosis is time they could be receiving vital treatment.
“More needs to be done to understand the natural history of a condition and how it develops as well as differing symptoms and clinical expressions,” continues Mr Andersen. “A patient can go undiagnosed for many years. Sometimes patients are even suspected of inventing symptoms which of course impacts negatively on their trust in the health care system.”
Patient groups play a vital role in developing research
Where once patients were geographically separated with little or no contact, through patient groups it is now much easier for scientists to contact a body of patients for clinical trials, gather data on a specific condition and learn more about the daily trials of living with a condition.
This kind of collaboration is absolutely key. “Twenty years ago we wanted to improve cooperation through bio-banks where samples from patients with rare diseases were collected, however, it wasn’t very well coordinated. Today, we are in a much better position. We have European Recommendations, A number of EU Programmes supporting research and the development of National Plans for the management of rare diseases. Cross EU reference networks are being formed with strong connections with patient groups all over Europe,” explains Mr Andersen.
Born with haemophilia, Mr Andersen understands
Anderson underacutely both the challenges of living with a rare condition and the huge improvements that can be made through research. “When I was born with haemophilia nearly 60 years ago, most children with the condition were given just 12 to 16 years to live. For every year I’ve been alive, research has added an additional year to my life,” explains Mr Andersen. “Even when I started working in this field 35 years ago there were so many diseases that were hopeless cases. Now we can actually see the first possibility of cures for such diseases, it’s so heartening.”
With more advanced technology, greater knowledge and increased collaboration, patients and the medical profession alike are optimistic about the positive changes that can come through research into rare diseases.