A Ray of Hope for Rare Diseases
When Joe and Retta Beery brought home their newborn twins, Noah and Alexis, in 1996, they were happy and excited. Although well aware of the challenges of twins, neither of them would have predicted the ups and downs of the next five years. “It just felt like a never-ending roller coaster,” remembers Joe.
The twins cried constantly and never slept through the night. This scenario is one experienced by many new parents and, after consulting their pediatrician, the Berrys were told that the endless crying and sleepless nights were due to the babies having colic. The doctor predicted that the colic should only last three to six months – or, at worst, up to a year.
But more problems developed over time: The twins were ”floppy” and showed weak motor skills, frequent vomiting ("I would throw up 24/7,” Noah now says), and then Alexis had a seizure. “We were very, very concerned,” says Joe. “It was then that we started looking for an answer that the doctors weren’t giving us.” When the twins were two years old, their anxious parents were told that both Noah and Alexis had cerebral palsy (CP).
Mystery solved – or was it? The twins began physical therapy and seemed to improve. But by the time they were five-and-a-half years old, Alexis began to regress. “The biggest thing I remember is not being able to reach people,” recalls Alexis. Watching the home videos of her attempts to keep her balance before collapsing on the floor, one can only guess how frightening it must have been for her – and for the whole Beery family.
“The very idea that Noah and Alexis had something that was treatable …was beyond anything that we had ever hoped for or dreamed of.”
Besides Alexis’ regression, other pieces didn’t really fit the CP diagnosis. Retta remembers asking herself: “Why is it when she wakes up in the morning, she can walk and she can talk, but by 10:30 or 11 o’clock in the morning she couldn’t even sit up?” Searching online, Retta found a 1991 article in the Los Angeles Times that would change the family’s lives forever.
The newspaper article on Segawa’s Dystonia described Alexis perfectly. The article even mentioned that Segawa’s symptoms are mild in the morning and get progressively worse during the day. “The very idea that Noah and Alexis had something that was treatable,” remembers Retta, ”was beyond anything that we had ever hoped for or dreamed of.”
The LA Times article described a little girl in North Carolina who was affected by a rare disease. At seven years old, she had poor balance and frequently fell down. By 14 years old, she had to hold onto someone to walk. Her parents, like the Beerys, never gave up hope of finding a cure.
After visiting multiple hospitals across the United States, the girl and her family visited the National Institutes of Health where they saw neurologist Dr. John K. Fink. He and his colleagues thought Segawa’s disease was likely, but the surest way to tell was to give the girl a small dose of L-DOPA – the same substance used to treat Parkinson’s Disease. Less than two hours after her first dose, the girl was walking without help.
“The following morning, Retta and Joe realized that Alexis had slept through the night for the first time in her life.”
Retta immediately emailed Dr. Fink who, in the decade since the LA Times article, had moved to the University of Michigan at Ann Arbor.She described Noah and Alexis’ symptoms – expecting to wait months to see him. But after exchanging several emails, “he asked if we could bring Noah and Alexis out to Michigan,” recalls Retta, “and I said ‘Absolutely!’”
After carefully examining the Beery children, Dr. Fink sent them back to their hotel with a dose of L-DOPA, asking them to return the next day. The following morning, Retta and Joe realized that Alexis had slept through the night for the first time in her life. In addition, she had climbed into the car on her own and fastened her own seat belt. “Joe and looked at each other, and we had tears in our eyes.”
A Ray of Hope
In 2009, the chronic cough that had plagued Alexis for several years developed into a life-threatening breathing problem. “We almost lost her several times,” Retta said. “We were back in the world of doctors and testing and no one can come up with an answer.”
But there was one ray of hope: Only the year before, Joe had started work at a technology company that offered an opportunity to have the twins' genomes sequenced. "I couldn't help but believe that we were going to find something," says Retta. And she was right. After years of unanswered questions, genome sequencing identified the gene – even the specific mutation that caused the twins' problems.
“The twins’ neurologist prescribed 5-HTP, an amino acid that converts into serotonin … Within 2½ weeks, Alexis had stopped coughing”
Segawa’s disease is caused by mutations of the SPR gene on chromosome 2, and involves an error in dopamine synthesis. Because the disease responds to small doses of L-DOPA, it is also called Dopamine Responsive Dystonia (DRD). Dystonias are a category of nerve disorders affecting 100,000 to 200,000 people in the U.S., but Segawa’s includes only the 2 or 3 percent of dystonias that respond to L-DOPA.
Noah and Alexis have an especially rare form of the disease. The twins’ rare SPR mutations – one from their mom and one from their dad – are found in only 3 percent of DRD patients and affect not only dopamine but also serotonin production. With that knowledge, the twins’ neurologist prescribed 5-HTP, an amino acid that converts into serotonin in the brain. Within 2½ weeks, Alexis had stopped coughing. Today, she participates in any sport that she likes.
“That’s our hope,” says Retta, “that kids with rare diseases will have this opportunity so not only can they be diagnosed but, if there’s treatment available, that they can be treated.” “This is a living example of … how this research allows doctors to better understand diseases,” added Joe.“ And it’s personal to me.”
The Beery family story on YouTube (Discovery Health Channel and Arizona News Channel 3).
“Deft Diagnosis: Segawa’s Dystonia Mimics Cerebral Palsy But Is Treatable.” Los Angeles TImes, April 08, 1991.