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    Genetic Testing Reveals Answers During Long Medical Odyssey

After searching nearly three decades for an explanation to his challenging medical problems, whole-exome sequencing at Mayo Clinic finally provided the information Kyle Christy needed to better understand his condition and chart a way forward.
Debra, Kyle and Todd Christy

After searching nearly three decades for an explanation to his challenging medical problems, whole-exome sequencing at Mayo Clinic finally provided the information Kyle Christy needed to better understand his condition and chart a way forward.


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 firstborn son's life would be like. When their second child was born 19 months after Kyle, the couple 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, osteoporosis, a spinal condition called kyphosis, severe swallowing issues and gastrointestinal problems. Kyle also had a difficult time socializing and interacting with others.

"I won't deny that it's been tough," Kyle says. "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. Given Kyle's tall, thin body type, they thought Marfan syndrome might be a possibility, too. They kept searching. After a while, Kyle grew weary of the endless doctors' appointments and tests. "We've done pretty much every type of testing you can think of," he says. "But it was always one dead end after another."

The long search finally came to an end in 2018 when Kyle and his family discovered the Diagnostic Odyssey Clinic led by Radhika Dhamija, M.B.B.S., in the Department of Clinical Genomics at Mayo Clinic's Arizona campus. Kyle and his family underwent whole-exome sequencing, a test that can essentially read a person's genetic code. The results can reveal the way the human body grows and develops.

"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."

Debra Christy

The results of Kyle's test were thoroughly reviewed by the Mayo Clinic Diagnostic Odyssey Board, which includes representatives from the Department of Clinical Genomics and the Center for Individualized Medicine. Specialists from numerous disciplines, including clinicians, laboratory physicians, genetic counselors and postdoctoral fellows discuss potential next steps for patients.

The test results uncovered the cause of Kyle's medical issues: a gene mutation. Although there is no cure or treatment at this point, Kyle accepts that. "It's genetic, and it's part of who I am," he says.

His mother says having the information in hand now, even though no treatment is available, is a significant step. "We know moving forward that Kyle was made that way on day one," Debra says. "We don't have to keep searching and having him tested. That's huge."

Unflappable resolve

As they worked with him, Dr. Dhamija and the rest of Kyle's team at Mayo Clinic learned much about the medical problems that have troubled him since childhood, and they were impressed with his tenacity.

"Kyle has been one of the most involved patients I've had," Dr. Dhamija says. "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."

Mary Weise, a nurse coordinator who supports the program, said that after all the years of uncertainly, the care team was gratified to be able to give Kyle and his family the information they needed. "It provided them that peace of mind they were seeking," she says.

Although knowing the root cause of Kyle's medical concerns will be useful going forward, his parents are confident that the unstoppable resiliency Kyle relied on during years of uncertainty also will continue to serve him well. "I always say he is totally Kyle," Todd says. "Kyle does not fit any mold," Debra adds.

"When people tell me I can't do something, I'm eager to prove them wrong."

Kyle Christy

Todd marvels at Kyle's ability to see the good in life, despite all he has been through. "He has such a great attitude," Todd says. "He's just so unique."

"He has always been a light in our family," Debra says. "He could be having the worst day, and he will just say: 'Look at the sky. Isn't it beautiful?'"

His attitude isn't the only area where Kyle's positive approach to life shines through. He has always been confident in his ability to tackle daunting challenges. Despite his medical concerns, Kyle's language skills are highly evolved, and he has a passion for writing. He insisted on going to public high school with his siblings.

After he graduated, Kyle posed the idea of Mesa Community College. "We said, 'Go for it.'" Debra says. After receiving his associate's degree, the prospect of pursuing a bachelor's degree came next. Kyle didn't hesitate to suggest Arizona State University, close to their home in Tempe, Arizona. Both Debra and Todd were on board with Kyle's decision. He earned a degree in English literature.

"When people tell me I can't do something, I'm eager to prove them wrong," Kyle says.

Welcome relief

Although he took pride in all he accomplished, it was still important to Kyle to better understand the cause of his medical problems. "I just wanted to find out what has held me back all these years," he says.

While Todd and Debra also celebrate Kyle's achievements, for 27 years the couple was undeterred in pursuing their mission to help Kyle learn more about his condition. But it wasn't easy. At times, Debra questioned herself, wondering if "another mom would have figured this out sooner."

When the Christy family finally found out about Kyle's gene mutation, it was a relief for everyone involved. "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,'" Debra says. "It was just so overwhelming to finally hear that."

With his search for an explanation at an end, Kyle now is focusing 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."

Words of encouragement from Kyle Christy …

From the very moment I left the womb, people could tell there was something different about me. As a baby, my development was slower than most, and it was believed I was suffering from a connective tissue disorder that was impeding my ability to develop on the same level as my peers.
 
Because of this, some of my instructors vocalized that I would not be able to make it through high school, let alone college. However, I have never let my limitations define my life, and I made it my mission to prove everyone wrong who doubted me! I graduated from one of the most prestigious universities in the country with a bachelor's degree in English literature.
 
It was only recently that I learned the true cause of all this, thanks to the amazing doctors at the Mayo Clinic in Phoenix, Arizona. Thanks to the latest developments in genetic research, they were able to determine that all the issues I had dealt with all of my life were caused by a genetic mutation that had developed in my body before I was even born.
 
Never believe you don't have a choice, because your life is just that — your own — and you always have the power to shape it any way you want to. As long as you believe in yourself and have the right amount of support, a life of success and happiness is right outside your door.

Learn more about Kyle's story in this video:


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