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A Disease So Rare, It Took 23 Years to Diagnose

Dustin Bennett was 23 years old when doctors finally figured out what was causing his strange spasms.

By Dr. Sanjay Gupta

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Dustin Bennett has a disease so rare that only 100 cases have been identified in the entire world. It’s called episodic ataxia type 1, and it causes Dustin to lose control over his muscles. It can be treated, but first it has to be diagnosed. And in Dustin’s case, that took 23 years.

Dustin was adopted at 18 months old. His mother Linda says when she stood him on the floor, he was unable to . So began years of doctor’s visits and testing, none providing an answer.

As Dustin got older, the problems got worse. Linda says she was often called to his high school to pick him up when school officials thought he was having a seizure.

“I knew it wasn’t anything he was just doing because he would be so exhausted afterward,” she says.

RELATED: 10 Things Your Doctor Won’t Tell You About Your Blood Tests

Today, Dustin can walk normally, thanks to his mother’s refusal to give up the search for an answer and to a new tool in doctors’ toolkit.

Dustin Bennett's mother, Linda, refused to give up her search for a diagnosis of his condition.

It’s called whole exome sequencing, and it allows doctors quickly and inexpensively to scan all 22,000 human genes to spot any mistakes.

Using blood samples from Dustin and from three of his biological relatives, doctors at Mayo Clinic spotted the specific mutation in one of Dustin’s genes that is the hallmark of episodic ataxia type 1.

“Whole exome sequencing allowed us to make the diagnosis precisely and quickly,” says Zbigniew Wszolek, MD, a neurologist at Mayo Clinic.

With the correct diagnosis, doctors were able to find the right treatment. “When I saw Dustin for the first time, he was not able to function,” says Dr. Wszolek. “Now he is able to play basketball, to go to school. Different man.”

Genetic Testing May Become Routine

The human genome was first sequenced in the year 2000, but it wasn’t until recently that the process became fast and inexpensive enough to be a useful tool for doctors.

Today, gene sequencing is contributing to what President Obama called a “new era of medicine” in his most recent State of the Union address. Sometimes called precision medicine, it will use genetic testing not only to diagnose but to tailor treatments to an individual’s genetic profile. Some doctors predict genetic testing could one day be as routine as a blood test.

Last Updated:6/30/2015

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Date: 12.12.2018, 14:50 / Views: 84372