Lynsey Chediak recently penned a story in Qrius about the future of rare disease treatment. Lynsey was born with arthrogryposis, a rare congenital condition in which scarring of muscle tissue prevents a normal range of movement for two or more joints in the body. However, Lynsey had an especially severe case that affected almost all of the major joints.
In order to seek treatment for her disease, Lynsey has visited a diverse array of specialists that focus on different areas of the body, such as the spine, knees, feet, jaw, and hips. This experience is far from uncommon for rare disease patients. Often successful management of a rare disease requires a team of doctors that have the experience and skill necessary to address different problems.
In describing these experiences, Lynsey makes a very important point: all of these doctors are experts and specialists in a given area of treatment and health. However, there are no specialists that focus on rare diseases. Rare disease patients (of which there are nearly 30 million in the US) don’t get that luxury. Rare disease patients are always a step behind, not ahead, of their condition. When treating rare disease patients doctors either turn to common solutions (that don’t always work) or resort to unconventional methods that may be even more dubious. Often rare disease patients have to see doctors after symptoms appear rather than take prophylactic measures that could prevent them in the first place.
Only a small percentage of rare diseases have effective treatment options. Often there are no concrete plans to modify treatments as the patient ages or as the disease progresses. Despite all of these problems, which are made even more real by Lynsey’s own uncertainly about her condition, she sees hope in technological developments. Precision or personalized medicine appears to be an approach that could help more rare disease patients get the treatment that they need.
Personalized medicine could make it easier to address the underlying mechanisms and causes of rare disease instead of just trying to alleviate symptoms. As this technology develops, it could also begin to take into account a patient’s individual characteristics, such as lifestyle, genetics, and environment. This approach could finally make treating rare disease patients more effectively a real possibility in the coming decades.