Google, Facebook and the Subculture of Rare Disease Medicine




When my daughter first presented with hyperpigmented macules, I brought her to her pediatrician. When her pediatrician did not have an answer, we moved on to more specialized doctors. Since her only symptoms, at the beginning of our diagnostic odyssey were hyperpigmented spots and swirls, we started with dermatologists. After a year of seeing many different dermatologists, we found a dermatologist that diagnosed her with Hypermelanosis of Ito(HI), a disease that was thought to affect 300 people worldwide. Fortunately, there was a Facebook group set up for HI; my first connection to this rare world. 


Like most parents, I needed to learn everything I could about HI. Through Google, I discovered OMIM and PubMed, which led me directly to the few researchers studying HI. I am certain that I have read every single medical journal article about HI.


When my daughter became sick at the age of 18, I learned from a scan of her jaw and a very thorough radiologist that Olivia had Chiari malformation. I had already learned that patient-run Facebook groups were an incredible resource in this space, so I joined a Facebook group for Chiari. I was not disappointed. I was able to connect what I learned about the many symptoms Olivia and Hana experienced over the years with Ehlers-Danlos Syndrome(EDS). Both Google and Facebook had served me and my children well, since it can take 30-50 years to be correctly diagnosed with EDS.


Medicine, real medicine is happening every single day online. I have learned so much from these extraordinary patients and parents. I have also, because I am uniquely working both disease specific and on the issues of all rare diseases, come to see how a simple post can lead to a