Ifyou scroll through databases of children and families who are part of the rare disease community, vague words like “unknown” and “undiagnosed” appear over and over again.
Alexander: Mitochondrial disease
Bertrand: Unknown lysosomal disease
Bethany: Undiagnosed
Connor: Rare chromosomal disorder
Eithene: Unknown genetic disorder
Some disorders are too rare for most physicians to have heard of them; others are completely new mutations.
Ambreen Sayed, a PhD student at the University of Maine’s Graduate School of Biomedical Science and Engineering who researches rare neuromuscular diseases, recalls her time interning in a hospital’s genetics department: “Nobody knew the name or proper treatment for a disorder affecting a particular child that was brought in, so the child couldn’t be effectively diagnosed or treated. I had always thought science treats everyone equally,” she says.
“That was one of the first instances where I was exposed to the fact that not every problem has a proper scientific name or definition, let alone people who want to work on the issue. That’s when I decided I wanted to work in the field of rare diseases,” says Sayed.
lthough each rare disease affects fewer than one in 1,000 individuals, they collectively affect one in every 10 Americans, according to the National Institutes of Health. A select few — such as cystic fibrosis, ALS, and Huntington’s disease — have gained attention and research funding through mass awareness efforts and celebrity involvement, but most of the 7,000 known rare diseases remain completely unfamiliar to the general population and much of the medical community.