The road to an ultra-rare disease diagnosis can take a long, arduous and costly path, with scores of doctors and tests along the way. When patients finally find the culprit behind their misery, all too often, there is no effective treatment—and research moves slowly due to the limited number of patients who can enroll in clinical trials.

In Tilyn Sincere Richards’s situation, the route was riddled with plenty of obstacles to identifying the cause of his developmental impairments. By age 2, Tilyn army-crawled sideways and fell frequently. However, it wasn’t until other people began pointing out these strange movements that his parents realized this could be serious. They started searching for answers.

Initially, a doctor dismissed their concerns, insisting Tilyn wasn’t in pain. By minimiz

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