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The Boy Slumped to the Floor. Could These Be Seizures? – The New York Times

Posted: June 6, 2020 at 4:53 am

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 Dannys. They called their mother, told her what theyd seen and stayed on the phone as she watched the show. Twenty minutes in, they heard her gasp. She saw it, too. Thats when she picked up her phone and called her sister-in-law.

Dannys 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 theyd found the cause of their sons episodes. Theyd taken Danny to a geneticist early in their search for a diagnosis, but the genetic analysis didnt 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.

Dannys parents found Breteni and her daughter and told them about Dannys 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 daughters 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 Kamiyahs 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 Kamiyahs story. Might hadnt even considered Vyvanse until Breteni told him about how well it worked for her daughter and for Danny. And hes 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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The Boy Slumped to the Floor. Could These Be Seizures? - The New York Times

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