Rare Disease Day is a patient-led awareness event that draws attention for funding and knowledge of these rare diseases. Connie Taylor, MD, a pediatric neurologist with Avera Pediatric Specialists discussed what patients and families should know about rare diseases.
What exactly constitutes a rare disease?
So in the U.S., it's defined as any disease that affects less than 200,000 people. The more common examples would be cystic fibrosis or sickle cell disease, but they happen in every kind of specialty of medicine.
How is a rare disease diagnosed?
That's different for every rare disease. It's mostly through starting with a very thorough history and physical exam, with diagnostic tests that might include imaging or special laboratory studies. More and more, we're finding that rare diseases are genetically based, so we have some genetic testing that we do in a lot of cases as well.
As a pediatric neurologist, what are some of the rare diseases that you and your team help with?
I see a lot of epilepsy patients, and some of the rare epilepsies we might see are Lennox-Gastaut syndrome or Dravet syndrome. We have some neurocutaneous disorders that are associated with skin and neurological findings, so that would be like neurofibromatosis or tubular sclerosis, and then we have some neuromuscular disorders like Duchenne's muscular dystrophy that we see too.
Why is it important to have specialized pediatric services available in the community?
I think the other important thing about rare diseases is that most of them, roughly 60%, start in childhood. So if we want to shorten that diagnostic journey for most people, it's important to start in pediatrics, and it's important to start with the center that has different specialties, because a lot of things might affect the brain, but also affect the GI system or the bones or the skin. So it's important to have different specialties weigh in so we can get a kind of more comprehensive look at a patient.
What is the biggest takeaway from the prevalence of rare diseases?
We think about rare diseases being really rare because they affect only less than 200,000 people, however if you look at them as individually, they are actually collectively very common. One in 10 people have a rare disease. So I think the takeaway is that they are all around us. I think the stories are really important talking to people. When I meet a patient who already has a diagnosis of rare disease, I often will ask them, "Well, what were your first symptoms? How did you present?" Because you never want to miss that in somebody else, and hearing the story is really important to knowing in the future that you can make that diagnosis shorter and easier for the next patient.
