Today is Rare Disease Day. But health care is misunderstanding health by treating rare disease as the exception rather than the rule.
Rare diseases are common: 30 million Europeans have a rare disease. A disease is “rare” if it affects fewer than 1 in 2,000 people. At 6,000 rare disease, 4% of Europe’s 750 million population have such a disease.
https://www.eurordis.org/information-support/what-is-a-rare-disease
Some common diseases are clusters of rare mutations: each cancer starts as a unique new mutation. So the increasing effectiveness of new cancer treatments is driven by increasing focus on the mutation. So are non-cancer treatments as drug companies focus on the genetic differences between patients with pharmacogenomics. This is known as precision medicine.
Furthermore, common conditions combine, along with each patient’s different situation, to make each patient unique. And that’s before we think of people who are healthy and want to stay healthy, each with a unique metabolism, preferences, and situation.
Why do I mention this? I started PKB as someone with a rare disease. I saw first-hand the difficulties of being rare, and I keep hearing again and again from other patients about their “diagnostic odyssey” in seeking the right diagnosis and then the right treatment. I saw first-hand what happens when doctors rely on me because they understand that they do not understand my situation, and I keep hearing the same from other patients with rare diseases.
So in the beginning, most people understood the name “Patients Know Best” to only apply to patients with rare diseases. PKB, most people believed, was not relevant to most people. So we were only allowed to serve the 4% with a rare disease. But the evidence was already there that every person should be treated as though their situation was rare if not unique. Over time we were used for the 20% of the population with a long term condition, and now we begin to be used by the healthy to stay healthy.
Taking this approach means mass personalisation rather than industrialisation in health care. It means working with the patient not on the patient. It means learning from as well as teaching to the person. It means giving the person the information to understand their health. It means the only scalable and sustainable way to deliver health care in the 21st century.