When Dalia was 5 years old, she was finally diagnosed with MERRF syndrome– an extremely rare form of mitochondrial disease.

By then, her parents had been searching for an answer for three frustrating years. And like most parents of a child suffering from an undiagnosed medical condition, they expected that Dalia’s diagnosis would start a path to recovery. 

Rare disease

Unfortunately for Dalia and millions of Americans who have a rare disease, the condition is chronic and life-threatening. More than 90% of rare diseases have no treatment. None are curable. Even more heartbreaking for Dalia’s family, MERRF is degenerative. Time is of the essence.

According to research published in The Journal of Rare Disorders, it takes seeing 7.3 physicians and trying for 4.8 years before getting an accurate rare disease diagnosis. This uphill battle aside, diagnosis is merely the first challenge. For the 7,000 known rare diseases, less than 600 have FDA-approved treatments.  

The irony of rare diseases is that many people have them. The total number of Americans living with a rare disease is estimated at between 25 and 30 million. Two-thirds of these patients are children. “You feel alone, because by definition, your child’s diagnosis is exceptional. And yet, 1 in 10 Americans and 300 million people globally are living with a rare disease,” explains Jessica Fein, Dalia’s mother, in a heartfelt HuffPost article detailing her daughter’s diagnostic odyssey. 

Orphan drugs 

In 1983, Congress passed the Orphan Drug Act to encourage companies to develop treatments for rare diseases. Before then, fewer than ten treatments had been approved. Since 1983, hundreds of drugs and biologics for rare diseases have gained FDA approval. Still, most patients—like Dalia—have no treatments.

Four years after her diagnosis, Dalia lost the ability to walk, talk, eat, and breathe without a ventilator. She was only nine. More than a decade later, she is finally enrolled in a clinical trial. Her parents hope greater awareness of rare diseases will drive research, funding, advocacy, and health equity.

At the California Institute for Regenerative Medicine, we understand the importance of supporting research beyond common diseases. More than one‑third of the projects we fund target rare conditions, including retinitis pigmentosa, sickle cell disease, Huntington’s disease, and Duchenne muscular dystrophy.

“If each of us learned a bit about just one rare disease… it might not change the trajectory for most who are suffering, but it could help someone be diagnosed earlier. We’ve made leaps in awareness, research, and treatment for AIDS, cancer, and depression—diseases once unknown. Awareness and action can’t wait for more common illnesses to be solved. We must do what we can today—and every day moving forward.”