The Struggle of Rare and Orphan Diseases

One out of every 10 Americans has a rare disease, but each disease affects fewer than one in 1,000 people. How can we find cures, especially when more common diseases demand so much attention and funding?

If you 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…