'Diagnosis': Rare condition leaves 6-year-old fully paralyzed 300 times a day
Episode four of Netflix's 'Diagnosis,' a documentary web television series based on a column of the same name written by Yale School of Medicine physician and author Dr. Lisa Sanders, unfolds in Vermillion, a city of just 10,000-odd people in South Dakota.
At first glance, Kamiyah seems to be just another six-year-old girl. She loves playing with her toys, she loves getting her hair done, and she goes to school, just like all the other children.
But Kamiyah suffers from a possibly unique condition that sees her completely paralyzed without warning. The attacks leave her unable to breathe, last for anywhere between three and 20 seconds, and afflict her up to 300 times any given day -- that's more than 10 seizures every hour.
Her mom, Bretani Morgan-Berg, says that even a mundane activity like taking her daughter to the playground can be extremely challenging because she never knows when these attacks will leave the young girl paralyzed.
She said that she first noticed the problem when Kamiyah was just eight-months-old and that the constant episodes have left her slightly behind developmentally compared to other children her age.
The family knows her attacks are not seizures because an electroencephalogram (EEG) failed to detect any of the obvious tells that come along with them.
Despite trips to umpteen different specialists, nobody has been able to offer up a diagnosis, and Bretani is now fearing the worst.
She divulged that she worried incessantly about how Kamiyah would ever live a normal life, and how she would ever live on her own.
Desperate for answers, Bretani applied to have the National Institute of Health, which boasted of a highly-competitive Undiagnosed Diseases Program that takes on some of the most mysterious cases across the country, to look at the problem.
The NIH accepted her case but went radio-silent for the next two years. It could have been entirely possible that they too had failed to find the root of the problem, especially since they solved less than half their cases.
Having found herself at a dead-end once again, Bretani caught the attention of Dr. Sanders, who decided to dig into Kamiyah's medical records herself.
Curiously enough, the day after Sanders reached out to the NIH about the tests they ran on the six-year-old, the institute called Bretani and informed her that they had found the problem. The suspicion is that they had, carelessly, forgotten to inform the mother of the results of their tests.
Genome testing had discovered that Kamiyah had a break in one of her genes: KCNMA1.
The KCNMA1 is responsible for a unique potassium channel that controls the flow of the element, and which affects a variety of physiological processes including how neurons in the brain communicate and how muscles contract. The break in the gene explained all of Kamiyah's symptoms.
The NIH said she had not inherited the gene from either her mother or father and that her case was "groundbreaking" because she was the first person they had ever discovered who had that break.
For Bretani, the news was bittersweet. She now knew what was wrong with her daughter, but was helpless to do anything about it. There was no cure to the condition, no medication, no treatments, nothing. It was, in her words, 'A diagnosis to nowhere."
Even worse, it seemed like there was nobody out there who could even relate to what she was going through because nobody else out there suffered from such a condition. Or so she thought.
Once Kamiyah's story hit the headlines in the New York Times, Bretani found herself being bombarded with messages from parents who insisted that their child had the KCNMA1 mutation as well.
She was added to a Facebook group where she was introduced to dozens of other parents, and while it provided her with an essential support system, the cases of one of the older children hit her with a crippling realization: that it would get worse.
One of these parents, who were from Denmark, said that their 12-year-old son Atle had the episodes 40 times a day, but that each of those episodes lasted as long as five minutes.
Kamiyah's case was an outlier for 'Diagnosis,' which usually explores cases of those whose conditions remained a mystery. Here, the problem was obvious, but a solution remained elusive.
Will Bretani find an answer to her daughter's affliction? You can watch the episode on Netflix and find out yourselves.
Watch the trailer for the show below: