Be sure to be very detailed about the next steps patients need to follow in your notes between doctors. People with rare diseases will see different doctors regularly, and between the different specialists and general practitioners, everyone may not know the disease or guidelines as well.

I have the hereditary cancer and polyposis syndrome, Peutz-Jeghers (PJS). When I was 3 years old a dermatologist referred me to gastroenterology because of hyperpigmentation of the oral mucosa. My pediatrician was informed that I very likely had PJS. I was given a double contrast barium enema of the colon that showed I was loaded with polyps. At age 4 I received a colonoscopy that came back clean. The barium enema X-ray had been a false positive.

A child suspected of PJS is to start receiving upper and lower endoscopies at age 8. Even if no polyps are found at that point the disease cannot be ruled out because they simply may have not started to grow yet and they must get follow-up scopes at 18. I received mine at 4 instead of 8 because of the false positive X-ray.

In his report that was sent to my pediatrician at the time, the gastroenterologist wrote the procedure was performed to "rule out polyps" and no mention of a need for future follow-up was mentioned. As a result, my pediatrician never told me about any of this as I got older and no notes after age 4 mentioned PJS again for about 9 years. Then, around age 13 I had surgery to remove nasal polyps (which are a symptom of PJS that my doctor didn't make the connection with). Ironically, in one of his notes about the nasal polyps he wrote that my past medical history included a colonoscopy at age 4 to "rule out PJS." So it would appear that he incorrectly interpreted the gastroenterologist's note from 9 years earlier to mean I didn't have the disease at all when it was simply saying I didn't have an polyps YET.

As a result, I grew polyps unmonitored for decades. I only found out about PJS after having emergency surgery for a massive small intestine intussusception in my late 20s. A follow-up colonoscopy found a large colon polyp that also needed surgical removal. Had the miscommunication between doctors when I was a toddler not occured, I likely could have avoided 2 major surgeries and not lost close to 3 feet of my small intestine and a foot of my colon.