Complicated numbers at least establish that Rare Disease is a big, national and global problem disabling and killing millions
I walk you through the complicated math of Rare Disease and the simple conclusion on this Rare Disease Day 2024.
Ten Rare Disease Facts from Doug Lindsay,
Former Co-Chair of PCORI’s Rare Disease Advisory Panel (2019-2022) & CNN’s Top Health Story of 2019:
Doug’s Note: You will see a lot of different and differing stats shared today on Rare Disease Day — all by what are seen as credible organizations. How do we account for this, and what do we make of it? Is one org wrong; is anyone lying? Are these differing stats hurting “the cause” of rare disease?
These differing stats do not necessarily contradict each other. One is not true and another false. Rather, it is challenging to define a large, global community that is comprised of thousands of different, very diverse, understudied rare diseases.
See, the definition of a rare disease is different in the US and UK. It is different also in Japan and Australia. The EU has its own definition. Neighbors Brazil and Argentina use differing definitions too.
And those different definitions can be hard to translate so we can compare them side-by-side. It’s not a language problem; it’s a numbers problem.
For example:
The UK says a rare disease affects fewer than 1 in 2,000 people. Scaled up to “per 100,000 population” stats, like we measure crime, and cancer, and other incidence in the US, that is 50 per 100,000 in the UK.
The US says a rare disease is any disease with a national population below 200,000. Well, the population of the US continues to grow. So, 200,000 is the top of the fraction, but what population is the bottom? If you use 300 million or 330 million, you get different answers. In the US it is roughly 60 per 100,000 people.
The EU apparently uses
“life-threatening or chronically debilitating diseases which are of such low prevalence (less than 5 per 10 000) that special combined efforts are needed to address them so as to prevent significant morbidity or perinatal or early mortality or a considerable reduction in an individual’s quality of life or socioeconomic potential.”
That sentence is long… and missing many commas, but 5 per 10,000 equals 50 per 100,000. So, in the EU it is 50 per 100,000.
Argentina uses the EU definition. Brazil says anything below 65 per 100,000 is rare. An article on defining rare disease says “The criteria used in Australia and Japan assume that an RD affects 11 or 40 out of 100 000 people, respectively.”
So, we see how national or global estimates of the rare disease population could vary widely based on when the expert made the estimate and what definition he or she was using.
(I pulled this info from an article in the BMJ: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9345065/ )
.
Defining How Many Rare Diseases There Are
Similarly, we have no idea how many rare diseases there are. We can guess. We can cite the guesses of fancy doctors, but we have no idea the exact number. We can’t even guess within a thousand. So, just today I’ve see 7,000, 8,000, 10,000… and global populations of 400 million or 470 million with rare disease.
What is relevant is here is this: What gets measured gets improved. Biz genius Peter Drucker said that decades ago. And now, at least, we have a day on the calendar for Rare Disease and an ever growing set of numbers to make this invisible problem visible.
.
Where Should We Go Next?
The US needs to declare Rare Disease to be a Health Disparity Group. That would put Rare Disease and the rare disease patient experience on the radar of every effort to improve health disparities. Right now, it’s not.
Who has the power to declare a health disparity group?
The Director of NIMHD & ARHQ Director together have the power to name a new health disparity population.
Making Rare Disease a health disparity population would change countless Americans’ tomorrows by revealing the poor outcomes that rare disease sufferers have been facing forever.
And they should do it today. Making Rare Disease a health disparity population would change countless Americans’ tomorrows by revealing the poor outcomes that rare disease sufferers have been facing forever.
If you want to know what I mean by poor outcomes, review this list of 10 rare disease facts that I sent out last year for some examples.
.
Rare Disease Stats
25 million Americans have a rare disease.
There are over 7,000 known rare diseases.
More remain unidentified
95% have no identified treatment.
A disease is rare if under 200k Americans have it.
Average time to diagnosis: 7 years
Average number of doctors seen: 8
At the current rare, how long will it take until all 7,000 have a treatment: 2,000 more years!
The US Govt recognizes 6 health disparity groups; rare disease not 1.
The Director of NIMHD & ARHQ Director could change that tomorrow by categorizing rare disease as a health disparity population. And they should!
Best to you,
Doug Lindsay