KCIAF.org reaction to Netflix series “Diagnosis”, featuring KCNMA1-linked channelopathy

Several patients and families living with a rare neurological condition called “KCNMA1-linked channelopathy” are featured in a new Netflix and New York Times documentary series called “Diagnosis”. The episode, titled “Looking for a Village” (Episode #4), follows a mother of an affected child who finally receives an official diagnosis of KCNMA1-linked channelopathy and discovers a community of other families with the same condition. People with a mutation in the KCNMA1 gene have a wide range of symptoms, but many suffer from sudden-onset episodes of muscle paralysis or inability to move normally, seizures, or both.

The KCNMA1 Channelopathy International Advocacy Foundation (KCIAF.org, a 501c3 designated charitable organization) is delighted that the broader public will have a chance to learn about this disorder and see how several families deal with this condition. KCIAF supports the efforts of families, neurologists, and researchers to find effective treatments for this disorder.

KCIAF.org was founded just a few months ago by a physician and a scientist: Dr. Andrea Meredith, a basic science researcher with a KCNMA1-focused laboratory at the University of Maryland School of Medicine, and Dr. Sotirios Keros, a physician scientist and pediatric epilepsy specialist who is transitioning from Sanford Children’s Hospital in South Dakota and returning to Weill Cornell Medicine in Manhattan.

Dr. Keros, the president of KCIAF.org (and who recently became the neurologist for one of the children in the episode), was happy with how it turned out. “The episode shows quite nicely what it’s like to have a diagnosis which is so rare, and how helpful it can be to find others dealing with similar issues. One of the reasons I helped create KCIAF.org was to ensure that newly diagnosed patients and their doctors had an immediate resource for learning about this condition and interfacing with other families, physicians, and scientists”.

 “It’s quite unusual for a patient advocacy organization to be founded by physicians and scientists” Keros notes, saying that it is usually families who lead the way. But he explains that he and Dr. Meredith had already been collaborating on KCNMA1 and found there was a lack of family and physician resources regarding this condition. Dr. Keros had prior experience founding non-profit organizations, and KCIAF.org was quickly born. Drs. Keros and Meredith are hopeful that KCIAF will quickly be “taken over” by families, to put the needs of families into the first mission of the organization.

Dr. Meredith, vice-president of KCIAF, is featured in the episode showing her lab’s efforts to understand the patient mutations. Dr. Meredith says, “I recognized the need for more information on this rare disorder, both for patients and families and for their neurologists and care providers.” Dr. Meredith and her research team, in collaboration with Dr. Keros, compiled a definitive review on KCNMA1-linked channelopathy as a resource for physicians to quickly get up to speed on the key aspects of this seizure and movement disorder. 

KCNMA1-linked channelopathy is rare enough that most neurologists will not see a case in their lifetime, which makes it doubly important that “word gets out” to physicians about this condition, so that the diagnosis can be considered when appropriate symptoms are seen in the clinic. KCIAF also hopes that the “Diagnosis” episode will move people to get involved with the organization, with donations, volunteering of time, and resources. We hope that there will one day be sufficient funding to provide research grants to scientists studying this disorder, in hope of finding a safe and effective treatment which will improve the lives of those affected.

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