Years ago, a doctor at a migraine clinic looked at my kiddo’s list of diagnoses (mostly rare diseases), shook his head, and said that they were too young to have so many diagnoses.
He went on to say that rare diseases are rare so there was no way they truly had that many rare diseases.
What do you say to that other than apparently, their body didn’t get that message?
Time after time, you hear the same thing. You couldn’t have that because it’s too rare!
You probably already know the statistics on rare diseases…
What does that mean in real life? Let me share a few anecdotes…
My kid’s got a double whammy. I brought MCAS and mitochondrial issues plus their dad brought EDS, POTS, and EoE to the genetic table. So rare that we just happened to find each other?
Growing up in a town of less than 10,000, two of my kids dated someone with a rare disease. Neighbors on either side of us had EDS so 3 houses in a row. Tell me it's too rare.
The two PTs I’ve seen in Estes Park, a town of 6000, both have more than a few patients dealing with rare diseases. One asked for my business card then changed it and asked for a big stack of them. That doesn’t sound rare.
Just maybe rare diseases aren’t rare but are too rarely diagnosed.
If you never diagnose anyone with a rare disease because it is rare, isn’t that a self-fulfilling prophecy?
Don’t let anyone tell you that a rare disease is too rare for you to have…they may not know better but we do.