When Rare Diseases Aren’t So Rare

By Liz Lewis: For More Info, Go Here…

Having a strange and little-known condition is increasingly becoming a regular part of life, bonding patients together with a common cause.

When Christy Collins’ daughter was born, the doctors were baffled. The baby’s body was larger on one side than the other, and her skin was covered with unusual birthmarks. The girl had low muscle tone and fluid in her lungs, and her legs felt doughy to the touch. But why? Medical experts could not say.

This was the beginning of Collins’ journey to find her daughter’s diagnosis. A freelance web developer, Collins already had two healthy children from uneventful pregnancies and was completely new to the disability world. Her journey over the next eight months would span multiple clinics, countless websites, and even continents before yielding answers. Just a few decades ago, children with seemingly undiagnosable conditions — children like her little girl — received a catchall label of “multiple disabilities” without further investigation. But things have changed.

Today genetics technologies and digital media capabilities have transformed the landscape for children and families with rare — and sometimes virtually unknown — syndromes. We now learn and share information about these lived experiences in fundamentally different ways than just a generation ago. As a result, people are now able to connect with others who have the same diagnoses or symptoms, simultaneously gaining new understandings of their shared experiences while also raising awareness about previously little-known conditions. Consider the example of myalgic encephalomyelitis (ME; formerly called chronic fatigue syndrome), an illness that received unprecedented media coverage in recent years. Indeed, the very concept of having a rare disorder has never been more common.

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