May 23, 2019

After nearly three decades of testing, genome-sequencing brings answers for Arizona family

By Sharon Rosen

Article by Lynn Closway

Debra, Kyle and Todd Christy

At age 27, Kyle Christy has defied the odds. He was born with seemingly insurmountable medical challenges that caused his parents, Debra and Todd, to fear what their beloved first-born son’s life would be like. When their second son was born, just 19 months later, Debra and Todd immediately noticed the differences between a healthy baby and Kyle, who failed to thrive.

“We just kept going from doctor to doctor,” says Debra, as she describes the litany of medical problems that Kyle has endured: low muscle tone, allergies, motor issues, kyphosis, osteoporosis, severe swallowing issues and GI problems. Additionally, Kyle faced numerous other obstacles with socialization in all environments.

“I won’t deny that it’s been tough,” admits Kyle. “Many told me that I wouldn’t make it through high school, let alone college.  But I’ve always been determined.”

Relentless search

Debra and Todd could only guess at what brought on Kyle’s perplexing symptoms.  They didn’t rule out autism, or even Marfan syndrome, characteristic of Kyle’s tall and thin body type. 

Kyle grew weary of the endless doctors’ appointments, testing and finding no answers. “We’ve done pretty much every type of testing you can think of.  But it’s always one dead end after another,” he says.

Those dead ends finally concluded when Kyle and his family discovered the Diagnostic Odyssey Clinic in 2018 at the Department of Clinic Genomics at the Arizona campus of Mayo Clinic, led by Radhika Dhamija, M.B.B.S.  Kyle and his family underwent whole exome sequencing, a test that can essentially read one’s genetic code.  The results can reveal the way the human body grows and develops.

The results of Kyle’s testing were thoroughly reviewed by the three-site Mayo Clinic Diagnostic Odyssey Board, representing the Department of Clinical Genomics and the Center for Individualized Medicine.  Specialists from numerous disciplines, including clinicians, laboratory physicians, genetic counselors and post-doctoral fellows discuss potential next steps for patients.

The family finally had their answer: Kyle has a gene mutation.  Although there is no cure or treatment for Kyle at this point, the family is relieved.  Kyle, too, understands that there is no cure.  “It’s genetic, and it’s part of who I am,” he acknowledges.

Unflappable resolve

“Kyle has been one of the most involved patients I’ve had,” says Dr. Dhamija. “He asked very intelligent questions, and said that if this was going to be for research, or to help patients in the future, he wanted to be part of it.”

The long journey leading to their answer posed significant challenges for Kyle and his family, and Dr. Dhamija and the team at Mayo Clinic learned much about Kyle’s medical problems that have troubled him since childhood. 

“I just wanted to find out what has held me back all these years,” he says.

Welcome relief

When the Christy family finally received their long-awaited answer that was revealed through Mayo Clinic’s Department of Clinical Genomics, it was a relief for Debra and Todd, as well as Kyle’s sister and brother. When it was explained that Kyle has a gene mutation, they embraced acceptance mode. “When Dr. Dhamija came into the room, for the first time, out of all the doctor visits we had gone through, she told us, “’We have an answer,’” recalls Debra. “It was just so overwhelming to finally hear that.”

Also relieved to have some answers, Kyle now focuses on his aspirations. “I want to just live my life, get a job and maybe have a family someday—just go where life takes me.”

“It’s genetic, and it can’t change anything, says Debra. “We know moving forward that Kyle was made that way on day one. We don’t have to keep searching and having him tested. That’s huge.”

To learn more about Kyle’s journey to a diagnosis, read the full story and watch a video on Sharing Mayo Clinic.

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Tags: #Dr. Radhika Dhamija, Genetic Testing, genomics, mayo clinic, Mayo Clinic Center for Individualized Medicine, Precision Medicine, Rare diseases, Research, undiagnosed diseases, whole exome sequencing

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