STAT July 25, 2024
It takes years for most people with a rare disease to learn what is ailing them. Their symptoms may be crystal clear, but the cause isn’t. Efforts by the Department of Justice — an agency not known for its medical expertise — will make things even harder for the millions of Americans, half of them children, with one of these diseases.
They deserve accurate diagnoses. Once they know what’s wrong, they may be able to pursue treatment, or at least put an end to the anxiety that uncertainty can produce. An accurate diagnosis can also empower them to make more informed health-related choices.
Recent advances in genetics have made it possible for many people with rare diseases to get the...