How the Internet is Sometimes Our Best Research Tool
Education & Research In the world of rare diseases, sometimes one must turn to the internet in order to piece together lesser-known ailments.
Had the internet been available when I was a teen, I would have spent many late nights Googling my symptoms; real or imagined. I was a hypochondriac. Every chest pain was a heart attack, every headache was a tumor, every twinge was cancer. I was the kind of person who doctors rightly recommend should not be using Google to diagnose their symptoms.
I grew up and never had a heart attack, a brain tumor or cancer. I also had children and became responsible for the care and well-being of two amazing little girls. When I became pregnant with my daughter, Olivia, there was an immediate connection to her and a seismic shift in who came first in my world.
Fear of the unknown
Olivia was born a few weeks early. At a week old, she was back in the hospital for a “failure to thrive.” She had many colds, ear infections and severe eczema. None of these things alarmed me, but they did concern me. Her pediatrician, however, was not concerned.
At the age of two, Olivia developed flat, light-brown streaks and whorls on her torso, legs and neck. Her pediatrician was stumped and not afraid to tell me so. I will always be grateful to him for having the courage to say, “I don’t know.”
The internet is sometimes our only resource. We are often the driving force behind research, treatments and cures.
I took her to several different dermatologists until we found a doctor familiar with hyperpigmentation. Olivia was diagnosed with Hypermelanosis of Ito (HI), often called pigmentary mosaicism. This is the point where I became acquainted with Googling symptoms.
The only information available at the time regarding HI were medical journal articles and there were very few of them. Initially, understanding these articles was extremely difficult for me. I barely passed high school biology, but love is a great motivator, and I persisted. My Google searches became fewer and further between as there was no new research for years.
Turning to the internet
When Olivia was 18, she developed some alarming new symptoms. Doctors were stumped. I Googled symptoms; I Googled medical terminology. I Googled until I found the answer: Olivia and my youngest daughter, Hana, had Ehlers-Danlos syndrome (EDS).
Everything fell into place. Hana’s ability to contort joints in ways I didn’t think were possible, their dad’s hypermobility and a grandfather who was born with dislocated hips and a club foot. The diagnosis was confirmed. EDS can take decades to diagnose correctly and although there are no treatments, there are ways to manage and minimize damage to the joints and tissue. Google had saved my children from suffering needlessly.
Now, Google is my partner in finding a cure. Through my research on Google, I was able to find a treatment that has greatly alleviated some of my children’s symptoms. EDS is a multi-systemic disease with varying symptoms, even in the same family. Symptoms can vary in severity as well.
Researching this disease is incredibly challenging. Most doctors are highly specialized and have difficulty understanding a disease that can affect every system in your body. Therefore, as a mother, I feel compelled to learn everything I can.
My story is not unusual in the world of rare disease. The internet is sometimes our only resource. We are often the driving force behind research, treatments and cures.