“I know what Danny has,” said the boy’s aunt to the boy’s mother, her sister-in-law. Her voice on the phone cracked with excitement. “I saw someone just like him on TV!”
This was last fall, and Danny was 18. He had been a medical mystery since he was 7 months old. His mother recalled that she had just finished changing his diaper and picked him up when she heard him make a strange clicking noise, his mouth opening and closing oddly. And then his head flopped back as she held him. She hurried to the living room of their Queens home to show her husband, but by the time she got there, Danny was fine.
Those sudden episodes of clicking and collapse happened again and again, eventually occurring more than 100 times a day. His first doctors thought these episodes could be tiny seizures. But none of the antiseizure medications they prescribed helped.
Then, when Danny was 8, and almost too big for his mother to catch when he slow-motion slumped to the floor, his parents found a doctor who was willing to explore a different diagnosis and treatment. Could this be a rare disease known as cataplexy? In this disorder, patients have episodes of sudden weakness in the skeletal muscles of the body. In some, cataplexy may affect only the face or neck, causing the eyelids to droop or the head to fall forward. But in others, it can also affect the entire body. These episodes are often triggered by strong emotion, which was the case for Danny. Cataplexy is usually part of another rare disorder, narcolepsy, in which the normal control of sleep and wakefulness is somehow lost. Those with narcolepsy have sudden episodes of sleep that invade their waking hours and transient periods of wakefulness that disrupt their sleep.
A Medication That Works
The boy was tested for narcolepsy when he was 5, but the parents wondered if the negative result could have been wrong. The doctor and the parents decided to try treating him with Adderall, an amphetamine usually given for attention-deficit hyperactivity disorder but used to treat cataplexy as well. The parents agreed, but the drug didn’t do much.
Undeterred, the neurologist started Danny on a different type of amphetamine, called Vyvanse. And, says the boy’s mother, it was like a miracle. At school her son had an attendant who stayed with him throughout the day to keep him from getting hurt when he fell down during an episode. And he had lots of episodes — up to 20 every hour. After he was on the medication for just three days, she told me, Danny brought home a note from school, which read: “Dear Mommy, I didn’t have any episodes today.” She burst into tears.
The medication stopped these spells completely while it was in his system. Before he took his pill in the morning, and when it wore off at night, he continued to have the episodes of jaw clicking and collapse. He couldn’t take a second dose at night because it would prevent him from sleeping. But during the day, for the first time Danny was able to have a life like other children’s.
An Unexpected Answer
Although the boy had a treatment that worked, his father didn’t think he had cataplexy. He’d seen a documentary about a girl who had it, and her attacks didn’t look at all like his son’s. The attacks of cataplexy were fast — like a switch that clicks off then on again. Danny’s attacks were much slower — as if he powered down rather than switched off. His father searched through websites on rare diseases and clicked on YouTube videos of children who were filmed having various types of spells. None of them looked like what happened to his son. What he had seemed unique — until Danny’s aunt called to say she’d seen a child just like him.
Earlier that day, her teenage daughters watched a Netflix documentary series called “Diagnosis,” which is produced by The New York Times and is based on this column. Before filming began, I wrote about patients with undiagnosed cases in special online versions of this column. The idea was to use the broad reach of the internet to try to find help for them.
The daughters watched an episode featuring a 6-year-old girl named Kamiyah who had spells that looked exactly like Danny’s. They called their mother, told her what they’d seen and stayed on the phone as she watched the show. Twenty minutes in, they heard her gasp. She saw it, too. That’s when she picked up her phone and called her sister-in-law.
Not One of a Kind
Danny’s mother fast-forwarded through the first few minutes of the episode until she saw the girl collapse and then recover, just as her son did. She rewound it and watched from the beginning.
The mother on the screen, Breteni, described how Kamiyah first started to have these spells when she was 8 months old and learning to crawl. That child had gone to the National Institutes of Health Undiagnosed Diseases Network (U.D.N.) — a program dedicated to finding answers for patients who did not have diagnoses after a full investigation. Doctors at the U.D.N. discovered that the girl had a rare genetic abnormality shared by only a handful of children in the world. The affected gene, known by the name KCNMA1, made an aberrant version of a piece of cellular machinery in the brain. That abnormality causes episodes of collapse in which the body simply seems to grind to a halt, then start again.
The woman called her husband, and they watched the show together. He, too, was convinced that they’d found the cause of their son’s episodes. They’d taken Danny to a geneticist early in their search for a diagnosis, but the genetic analysis didn’t reveal anything. They went back and asked the same doctor to test their son again, this time specifically for the KCNMA1 gene — an abnormality unknown at the time he had his first test. It took two months for the results to come back: The boy had a mutation in his KCNMA1 gene, just the way Kamiyah did.
The Power of the Crowd
Danny’s parents found Breteni and her daughter and told them about Danny’s successful treatment. Kamiyah, too, was first thought to have epilepsy, but the medicines she was given seemed to make her episodes even worse. Since then, Breteni had been reluctant to treat Kamiyah with any medication. But after hearing what this medication did for Danny — allowing him to go to school, to learn, to make friends — Breteni reached out to her daughter’s neurologist, and with his approval started Kamiyah on Vyvanse. The results were immediate. Within days, Kamiyah went from having hundreds of spells a day to having none at all — at least not while the medication was in her system.
After Kamiyah’s story was told, researchers began looking for ways to help patients with this unusual genetic mutation. Andrea Meredith, a neuroscientist at the University of Maryland School of Medicine, had spent her career studying this gene in mice. She contacted Breteni, after hearing about Kamiyah, to share what she had learned about the gene and its diseases and to work with them to find a treatment. Matthew Might, a researcher at the University of Alabama at Birmingham School of Medicine, also decided to look for medications to help those with this mutation after reading Kamiyah’s story. Might hadn’t even considered Vyvanse until Breteni told him about how well it worked for her daughter and for Danny. And he’s now looking for other drugs that will have the same positive effects as Vyvanse, but with fewer of the side effects from taking amphetamines.
Until then, Kamiyah and the handful of others like her can still enjoy something they never had before — a nearly normal life. In April, after three weeks on this medication, Kamiyah learned to ride a bike, something her mother never dreamed would be possible. She still has the training wheels on, but she and her mother are looking forward to a day when even those might come off.
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