Guest Post: The Real Advantages of Rare Disease Research

In Advocacy, Regulation & Government by Cameron

The results of rare disease research and drug development is far more than just having a pill to swallow for your disease.

In the United States

In September of 2013 The National Institute of Health (NIH) halted the only national study on rare connective tissue disease including Fibromuscular Dysplasia, Ehlers-Danlos, Marfans, Aneurysms and Sticklers.

No sufficient reason was given. A decade of data was felt to be significant enough for a longitudinal study that had the potential to truly characterize a poorly understood disease, whose true cost is astronomical compare to the relatively small cost of the study.

How does the cutting short of research impact a patients with rare diseases? I can speak from my experience as a patient with both Fibromuscular Dysplasia and Ehlers-Danlos. Two rare diseases that have overlapping symptoms and therefor overlapping treatments. What works for one disease can impact many diseases. The longitudinal study was collecting a natural history of rare connective tissue diseases, including tissue collection. Unfortunately the longitudinal portion of the study was halted. These diseases result in severe disability and even death for those afflicted. This study gave something that is not measurable by numbers. It brought patients together who felt alone in their struggle to get answers to many questions.

Patient Advocacy groups formed, patients talked to each and learned from one another. By opening up communication between disease areas we are able to bring the research community together to help see the bigger picture. Patients share what works and what does not. Rare disease research communities help patients navigate the health care system to find the best doctors to treat symptoms.

Half of patients… received conflicting information from different healthcare professionals about treatment options

With diagnosis and treatment of rare disorders taking approximately 6-7 years according to the Genetic Alliance. But even after receiving a diagnosis, we have the anguish of not knowing what information to trust. “Around half of patients with a rare disease and their caregivers stated they received conflicting information from different healthcare professionals about treatment options.” Patients become the experts in their disease out of the sheer need to survive. We read, study, and learn everything we can about out disease. We weigh our options and are forced to make uninformed decisions because of a lack of research. “More than half of patients and caregivers stated they needed to provide their healthcare professionals with information on their rare disease.”

Collaboration of rare disease research encompasses more than research and development. It provides a sense of belonging and acceptance through a community. It validates symptoms patients have lived with intimately their whole lives. And most importantly it gives control back to the patient.

We face daily challenges to maintain a status quo quality of life. Patients want to be part of the solution, we were given a problem in life to solve. Rare disease research encompass so much more than finding a cure, it is a path of empathy, caring and healing in a road less travelled. We have to fight for our research. We get exhausted going through the loop holes. We use all measures possible to get answers, and our efforts at times seem futile as we come across so many road blocks. We cannot do this alone. Rare disease patients’ expectations are achievable and our lives are worthy.

Although it can be difficult… Making patients equal partners in the process of rare disease research will lead to better outcomes for both patients and researchers

Even without the chance of a cure in our lifetime, it gives us hope that the next generation will have a cure, or at least learn from our experiences. Rare disease research is much more than the final result.

Although it can be difficult to define the return on investment for rare disease research as a whole, making patients equal partners in the process of rare disease research will lead to better outcomes for both patients and researchers.

Rare disease patients need a voice in research. As for our rare connective tissue disease research patients chose to come together and collected over 11,000 signatures asking for reinstatement of our research and researchers. Dr. Francis Collins the Director of NIH is now aware of our diseases and is communicating with us to find a solution.

We have made a stand in the rare disease community that loss of rare disease research at any juncture is a tragedy for many.

There is a chain of life in the rare disease research community. Remove part of the chain at any point and valuable time and resources are lost: life is affected.

Kari Ulrich




Kari featured on our Top 10 Rare Disease Advocates Online list.

Kari Ulrich Rare disease advocate