As medicine has become more evolved, physicians have adjusted their diagnoses accordingly. Before the era of modern medicine, many conditions were poorly understood and consequently lumped under the broad umbrella of a “bucket diagnosis”. Also derisively called “trashcan diagnoses”, they provide a convenient way to relegate a patient to a general treatment that may not be effective.
And, unfortunately, bucket diagnoses are still in use today. Though we’ve moved past many as we’ve refined the way we treat illnesses, conditions such as fibromyalgia can still be a catch-all for deeper problems that are more difficult to identify.
Sometimes, these conditions can be rare diseases that are underrepresented. Medical professionals may not be able to address them, or may not even be able to recognize a live case. This applies to many monogenetic disorders, where the number of cases in the US number in hundreds or even the dozens. In an era of instant information, organized patient communities are stepping up to improve disease awareness and the way rare diseases are addressed by medical professionals.
These organizations are as diverse as the patients that represent them, from grassroots movements to corporate-style nonprofits. Many evolve to the point where they strike up formalized relationships with regulatory organizations such as the FDA, leading to mutually beneficial partnerships when it comes to creating drugs that improve the lives of patients. Others are simply “kitchen table” organizations comprised of motivated family members that wish to see their loved ones receive a fair shot at treatment.
Take, for instance, Parent Project Muscular Dystrophy. The organization started as a group of parents frustrated with the lack of research into Duchenne Muscular Dystrophy. Though Duchenne currently has no cure, the efforts of this small group of people both accelerated research into the disease and grew their organization into a sizable advocacy group. Now, PPMD offers resources online for patients, helping parents find care centers and reminding them that they’re not alone in their struggle for fair treatment.
Though PPMD is now an expansive nonprofit with ample resources at its disposal, many organizations are still in their infancy. Online communities help bridge distances and bring together patients that may not have otherwise had the chance to interact. Even for rare diseases, some organizations try to provide the support they can. Global Genes aims to recognize the diversity of rare genetic disorders and amplify patient voices through unity, even if many of the conditions are unrelated.
This is often necessary when it comes to interacting with regulatory organizations such as the FDA and EMA. Getting in at a regulatory level is important for ensuring proper distribution of drugs or procedures that could improve patient quality of life, and recent years have seen an upsurge in patients giving feedback that helps determine policy. Engagement through organized communities is a way for patients to know that somebody is acting in their best interests and giving them the financial and medical support they need to live with their conditions.
Living with a rare disease can be isolating. This isolation drove the creation of patient communities, many of which have grown into sizable nonprofits. Now, awareness of these conditions has improved greatly, and along with it, research and treatment. Even across different diseases, allyship has earned patients a seat at the table when it comes to regulation and distribution. Expect to see more of these organizations develop further as communities are brought closer together and the power of the patient voice becomes more apparent.