Rare diseases affect from 263 million to 446 million people worldwide, yet little time is dedicated to them in medical school. Feb 28 is a day to mark rare diseases, and raise awareness of them globally.
“There are hundreds of millions of young people who wait many years before they have the right diagnosis. I was diagnosed with arthrogryposis at five years of age, but that name encompasses a variety of diseases all of varying severity with varying symptoms,” she says. On average, she says, rare-disease patients wait four years to receive a final diagnosis after consulting five doctors and enduring three misdiagnoses.
A few have been named after the patients in whom they were identified, or even the hospitals where they were first diagnosed: Lou Gehrig’s disease, a rare disease that weakens muscles and impacts physical function, was diagnosed in New York Yankees baseman Henry Louis Gehrig in 1939. It is also known as amyotrophic lateral sclerosis, or ALS.
Baker describes the rarest conditions, that tend to be “syndrome without a name”, or Swan, conditions. According to Swan UK, around 6,000 children are born in the country each year with a syndrome without a name – a genetic condition so rare that it’s often impossible to diagnose. International partnerships on rare disease are improving the future of those affected all the time. The Tipping Point Project, a genetic database of around 10,000 babies with rare diseases from 70 hospitals in the US and Canada, aims to persuade funders that this rapid Whole Genome Sequencing should be the standard of care for newborns who are hospitalised with a rare disease, says Baker.