Catherine Illingworth, 39, knew something was wrong the moment her son's neurologist walked into the room.
Illingworth requested the referral from her son's pediatrician based on instinct. George took a while to start walking, she said. Once he started, he never seemed stable. At 4 years old, George fell often and couldn't keep up with friends his age.
His diagnosis was a gut punch: Charcot-Marie-Tooth disease type 4C, a rare genetic neuropathy associated with early-onset scoliosis. As the condition progresses, George could develop other symptoms like cataracts, deafness, bone or joint abnormalities, cognitive issues and respiratory problems.
The doctor offered a ray of hope and told Illingworth that a treatment for her son's rare disease had likely already been invented. The catch? It was stuck in "the research valley of death." Illingworth found the neurologist's prediction was true. Her son's treatment was just a few clinical trials − and $6 million − out of reach.
Illingworth's situation is all too common. More than 7,000 rare diseases impact more than 30 million people in the United States, according to the FDA. Half of those patients are children. Most of those conditions do not have treatments, and many of the therapies that are invented to treat rare diseases never gain the capital to make it to market, leaving parents with few places to turn.
