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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.
Unfortunately for Dalia and millions of Americans who have a rare disease, the condition is chronic and life-threating. 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 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 a lot of people have them. The total number of Americans living with a rare disease is estimated at between 25-30 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.
For decades, the rare disease community has pointed to these staggering numbers to highlight that while individual diseases may be rare, the total number of people with a rare disease is large.
In 1983, Congress passed the Orphan Drug Act in order to provide incentives for drug companies to develop treatments for rare diseases. Between 1973 and 1983, fewer than 10 treatments for rare diseases were approved. Since 1983, hundreds of drugs and biologic products for rare diseases have been approved by the FDA. While researchers have made progress in learning how to diagnose, treat, and even prevent a variety of rare diseases, there is still much to do because like Dalia, most patients living with a rare disorder have no treatments to even consider.
Four years after her diagnosis, Dalia lost her ability to walk, talk, eat, and breathe without a ventilator. At the time she was only 9 years old. More than a decade after her diagnosis, Dalia is finally enrolled in a clinical trial. Her parents hope that awareness about rare diseases and their prevalence will lead to research, funding, advocacy and health equity.
Here at the California Institute for Regenerative Medicine (CIRM), we understand the importance of funding research that impacts not just the most common diseases. In fact, more than one third of all the projects we fund target a rare disease or condition such as: 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 probably wouldn’t change the trajectory for most of the people who are currently suffering, but it might help someone be diagnosed earlier. We’ve made leaps and bounds with awareness, research and treatment for AIDS, cancer and depression, all diseases that were once unknown… Awareness and action aren’t things that can be put on the back burner until more common illnesses are cured. We must do what we can today- and every day moving forward.”