February 28, 2013 was the sixth international Rare Disease Day—an annual day of awareness for patients and families affected by rare diseases. There are approximately 7,000 different types of rare diseases and disorders, with 300 million people affected worldwide. About 50% of people affected by rare diseases are children. Diagnosing rare disease has often been a harrowing journey, but next-generation sequencing is making a significant impact on the diagnostic process. The story of the Spooner family demonstrates how advances in sequencing technology offer hope for rare disease patients and families.
The Spooner Family’s Diagnostic Journey
In 1998, Rick and Cristy Spooner’s first daughter, Cali, was born. At four months, she began shaking her head uncontrollably. After the family’s pediatrician didn’t show much concern, the Spooners sought a second opinion. Another pediatrician diagnosed Cali with cerebral palsy. Over the next few months, as Cali’s tremors worsened and she appeared to be having violent seizures, the Spooners rushed her to the hospital. Each test came back showing no signs of seizures. Cali’s MRI indicated damage to the cerebellum, but doctors had never seen an MRI like hers before. Before Cali’s first birthday, the Spooners hesitantly consented to a cerebellum biopsy. Frustratingly, although the biopsy confirmed damage to the cerebellum, it did not provide a diagnosis. By this time, Cali was noticeably falling behind developmental milestones. A few years later, the Spooners took Cali to see neurologists at the Mayo Clinic in Rochester, Minnesota—bringing yet more disappointment as neurologists and geneticists did not have an answer.
The Spooners’ second daughter, Raelyn, is healthy and happy. In 2009, their third daughter, Ryann, was born, and Rick and Cristy noticed as Ryann began to display the same symptoms that Cali had. With strong suspicions that they were dealing with something genetic, Rick and Cristy went through the familiar routine of testing in search of diagnosis once more. Last year, at the first annual Rare Disease Gala, they met Nicole Boice, president and founder of the Global Genes Project, and discovered that their case was a perfect candidate for a new test: exome sequencing. The Spooners jumped at the chance to have an answer at last, and exome sequencing provided them with a name: both Cali and Ryann have Complex I Deficiency, a very rare form of mitochondrial disease. So rare, in fact, that there are only two other people in the world that have been diagnosed with this disease.
Unfortunately, the story of the Spooners’ diagnostic journey is not a unique one. Many families, like the Allinghams, go through similar trial-and-error processes when trying to diagnose rare disorders and are met with frustration and disappointment. Advances in sequencing technology are enabling families to find answers faster. Exome sequencing is a noninvasive test that requires only a blood sample, minimizing the “poking and prodding” of other diagnostic tests. Even if sequencing results do not offer immediate options for therapy or cure, there is still great value in knowing, and families are often relieved to finally find answers to their questions.
The Global Genes Project
The Global Genes Project began as a grassroots movement in 2009 and has grown into a global organization that advocates for rare and genetic disease patients. The project aims to increase rare disease awareness, educate physicians and the public, and support rare disease research to find treatment and cures. Nicole Boice, president and founder, suggests that next steps involve building a starting point for rare disease education from what we know about these diseases. “There’s also a big opportunity to showcase the economics of knowing,” says Boice. Technologies like sequencing are making the “knowing” part easier, and the earlier doctors are able to provide diagnosis, the sooner families can pursue treatment and other options.
To learn more about rare disease and read other stories of hope, visit the Global Genes blog.