Diagnostic odyssey: The lonely road walked by thousands of Coloradans with rare disorders
Diagnostic odyssey—it’s a term I’ve been captivated by, ever since I first heard it. While each rare disease patient is unique, most are connected by the unifying experience, which lasts an average of five to seven years. As a journalist, I strive to tell compelling stories—and few are so moving as a parent’s journey to heal, and potentially save, their child. Here are a few such stories, written as part of my 2021 National Press Foundation rare disease fellowship.
When Keegan Joines was born as a low-birthweight baby, his parents saw the rough start as a mere bump in the road.
“He plumped up quickly and everything seemed fine,” said his mom, Susan Joines, an elementary school assistant and pediatric nurse by trade who lives in Castle Rock.
But by the time he was a year and a half, the Joineses were noticing developmental delays, including in walking and speech. A year later he would be diagnosed with Type 1 diabetes, an autoimmune disorder that destroys the body’s ability to create insulin, a vital hormone that allows the body to use glucose for energy.
“We noticed more global abnormalities and we always just kept thinking, ‘Something is related here. These are not all separate instances occurring.’”
Little did they know that, half a decade later, Keegan would be diagnosed with a rare genetic disorder — KCNJ11, which affects the pancreas and the brain, resulting in developmental delay and juvenile-onset diabetes; the diagnosis was one of only 30 identified cases in the world at the time similar to his.
Even with the diagnosis, the search for answers continues, as the Joineses await therapies that could unlock his potential, allowing him to develop beyond the kindergarten-to-first grade level he functions at as a 10-year-old — or could have no effect at all.
“Unfortunately we don’t know what his future is — and you never can, even with a well-researched disorder,” his mom said. “Of course, the sky’s the limit for these kids. But, without having much research, we just don’t know what to expect.
“There’s just not enough kids like him to know.”