Rare Diseases More Common Than We Know

By Dennis Ridenour, President & CEO
BioNexus KC

There’s a common saying in the rare disease community that “rare is common.” By definition, a rare disease impacts fewer than one in 200,000 people in the U.S., but collectively, nearly 1 in 10 have a rare disease. In the Kansas City metropolitan area, that means more than 250,000 people have a rare disease.

In the U.S., 25-30 million patients have been diagnosed with one of the more than 10,000 currently known rare diseases, which include many uncommon and ultra-rare conditions, as well as some of the most well-known rare diseases like Amyotrophic Lateral Sclerosis (ALS), Cystic Fibrosis and Multiple Sclerosis.

My journey in rare disease started in early 2015. My wife was pregnant with our third child, and, at our 20-week ultrasound, my son was diagnosed with a congenital heart defect that was  incompatible with life.” Theo was born early a few months later at Children’s Mercy Hospital (CMH), and, when he was one week old, was medically flighted to Boston Children’s Hospital, where he underwent open heart surgery at 10 days of age. While he was in surgery, CMH called and informed us that they had diagnosed him with a rare condition known as Rubinstein Taybi Syndrome (RTS). Since that day, rare disease has been a thread that has woven itself through every facet of our lives. We have joined a community of patients, families and advocates that is incredibly resilient, generous and empathetic, and has been helpful as our family navigates our journey. Today, Theo is thriving and doing very well. While he is mostly nonverbal and must endure weekly physical, occupational and speech therapy, he is an incredibly happy and loving kid who loves nothing more than to watch TV, swing and play with his siblings.

As a molecular biologist by training, I have always had a keen professional interest in DNA, genetics and rare disease. I explored potential career paths that included genetic counseling and medical science liaison, which both involve using one’s technical background and expertise to educate patients, families and clinicians on a wide range of conditions. My interest in genetics and rare diseases suddenly became more personal because of my son’s diagnosis with a rare disease.

The average time from symptom onset to a diagnosis for a rare disease is 6 years. Knowing what is causing a patient’s symptoms has significant benefit: it allows a patient to find their community and others who have gone, or are going through, what they themselves or their families are going through. It also allows the medical provider to chart a course of care that may include a treatment or cure.

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As President & CEO of BioNexus KC, Dennis Ridenour leads regional collaborations for life sciences and healthcare research to improve the health of patients and animals, while reducing and eliminating health disparities. Ridenour has held similar roles at Stowers Institute for Medical Research in Kansas City, MO, Merck Research Labs in Boston, MA, and the Department of Neurobiology at Harvard Medical School.