Globally, there are 350 million people suffering from 7,000 different rare diseases. It takes an average of almost 8 years to get correctly diagnosed, countless visits to doctors and emergency rooms, unnecessary tests and surgeries, money and years of uncertainty and anguish. When I first started the rare disease journey with my daughter, Olivia, I got lucky. When she first presented with the hyper-pigmented skin that signifies HI, I took her to her pediatrician. He examined her, gave me a perplexed look and said, “I don’t know.” Those three words probably shortened Olivia’s diagnosis time by years, since at the time she had no other indications. Then he did something even more startling, he didn’t charge me for the visit. Oh, if only we on the rare disease journey could have more pediatricians like Olivia’s. Instead of dismissing us, which happened often enough over the past 15 years or making us think we are crazy, why not just say “I don’t know,” because most don’t know.
How many of us have become the “doctors” for ourselves or our children? How many of us tell the doctors what is the best treatment for us or our children? How many of us know our disease so well we could present it, posing as a specialist, to a room full of doctors who would never be the wiser that we never attended medical school? Rare diseases are truly diseases without doctors, but there is hope. They have us; the patients and the parents to guide them. They just need to be willing to listen.
Recently, Olivia sprained her ankle very badly. It was a Friday night so I took her to the local children’s hospital. We were seen by a young doctor with a student in tow. Since Olivia was diagnosed, given the opportunity to be speaking directly to someone in the medical field, I teach. I point out the different characteristics of Olivia’s disease. Since she is 1 of 100 reported cases in the United States, I tell them they are unlikely to ever see HI again. Most humor me and listen, though I suspect they don’t like being “taught” by a soccer mom. Too bad. Well, on this particular night as I began to explain HI to the doctor and student, I was abruptly cut off. Not interested! Oh well, I tried. The doctor later came back to give me the results of Olivia’s x-ray and I gave it another try. The doctor pointed out that there are other diseases that present with hyper-pigmented skin that are not that uncommon. He said,”There is a disease that is not that rare called, uh, uh……” I said,”Neurofibromatosis.” He nodded. I shook my head in dismay. While there are some doctors well-versed in certain rare diseases, there are not enough! Rare diseases remain diseases without doctors.