The Doctors: Whole Genome Sequencing & Segawa’s Dystonia


The Doctors: Twins Genetics

The Doctors introduced a mother named Retta who was on a desperate search for a cure for her twins, who were colicky and vomiting. The twins had trouble with development, and they discovered around the twins’ second birthday that Noah had brain damage in his ventricle.

This meant their son had Cerebral Palsy, and family members including their older brother were concerned about the challenges the twins would face. Over the years, the parents became concerned that twin daughter Alexis was degenerating, calling into question the CP diagnosis.


The Drs: Genetic Mapping

The Doctors shared a remarkable story of a mother's fight to get the right medical diagnosis & treatment for her twins, using advances in genetic research.

Twins Misdiagnosed With Cerebral Palsy

In researching the issue, their mother learned of Segawa’s Dystonia, which mimics the symptoms of Cerebral Palsy, but is treatable. Upon learning this information, they were able to get their children on the proper medication and treatment for their condition.

But over time, Alexis developed a chronic cough. As the cough worsened, the parents went back through a battery of tests with specialists who struggle to find answers.


Whole Genome Sequencing

After attending a medical conference and hearing a presentation about Whole Genome Sequencing, Alexis’s parents considered having her Genome sequenced, to get to the bottom of her medical issues.

Finally, they got answers, learning that their children had a rare form of Dystonia, and getting the specific diagnosis they had been chasing for years. This helped the twins finally get the accurate treatment they needed and get on a path to good health.

Retta’s Twins: Gene Mapping

The twins’ mother, Retta, appeared in the audience to talk about how Gene Mapping helped cure her children. “That was something that had never been done before,” she said.

Dr. Travis Stork said Gene Mapping can help to detect problems, but in this case it also led to the proper treatment solution.

The Doctors invited twins Noah and Alexis, now young adults, to share their story.

“We actually really are proud of our mom and our dad, and how far she went, and how much she loved us, to get us back on our feet and act like normal kids again,” Noah said.

Dr. Jim Sears said this amazing breakthrough could help thousands or millions of other patients, by paving the way for parents to get Gene Mapping for their children, comparing the diagnostic search to finding a needle in a haystack.

Gene Mapping Research: Baylor College of Medicine

Dr. Travis Stork said the applications of this technology could be limitless. By phone, he spoke with a genetic researcher from the Baylor College of Medicine, which did the twins’ gene mapping.

“Each of us…has 3.5 million different variations that are unique to them, and different from a reference sequence,” Dr. James Lupski said. “So determining which of the variation plays a role is a challenge.”

How Genetic Mapping Works

Dr. Lupski said researchers are still learning about what all of our genes do, but computer methods and models, as well as a background in biology, can help doctors apply Genetic Mapping to mystery diagnosis.

Dr. Jim Sears said this process is quickly becoming more affordable with every passing year.

“It’s pretty amazing, beyond what we could’ve ever thought of,” twin Alexis said. The twins said they were able to see how the medication was giving them their lives and childhood back. Dr. Travis praised the perseverance of the twins’ parents.

Genetic Mapping Research Applications

Dr. Jim presumed that this genetic research could lead to cures in the future for conditions like Cancer, Heart Disease, and even Asthma. “More amazing cures on the way,” he predicted.

That can only be good news, and after hearing these twins’ story, I’m a believer.


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