KCIAF is excited to learn that Jim Sweetman has put his recent efforts towards a fundraiser car show, and has pledged that all proceeds will be going to KCIAF. Jim has worked to promote awareness of neurological disorders for over 10 years, on behalf of “Age” who has autism as well as a mutation in KCNMA1 leading to a KCNMA1-linked channelopathy. It will be held at Island Beach State Park, just south of Seaside Park New Jersey on October 26th (10am-4pm). There will be a car show where car enthusiasts and “modders” can show off their creative efforts with a chance to win one of 30 trophies for various categories of cars, as well as trucks and motorcycles. There will also be a trophy for best Halloween costume. In addition to the car show, the entire park is a destination of its own, with miles of beaches, a nature center, birdwatching, and more. Click below for much more info!
We’ve created a map which lists all the cases of KCNMA1-linked channelopathy that are currently known to us.
KCNMA1-linked disorders are receiving increased attention after the Netflix ‘Diagnosis’ episode ‘Looking for a Village,’ that follows Kamiyah, a child with seizure and dyskinesia. Perhaps you’ve seen the episode, or perhaps you’ve come across KCNMA1 in some other way and now you wonder if you (or someone you know) may have this condition based on symptoms you have observed.
We are pleased to announce that Dr. Andrea Meredith and her research team, in collaboration with Dr. Sotirios Keros, have authored a comprehensive review on ‘KCNMA1-Linked Channelopathy’, synchronized to the release of the Netflix documentary. This review is a technical publication that can be shared with physicians to quickly get them up to speed on the basic science and clinical “phenotypes” of the first patients known to have this disorder.
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.
Episode 4 of the Netflix Documentary series “Diagnosis” is now available on Netflix. You’ll get to meet several families living with a KCNMA1 linked channelopathy. We’re hopeful that many thousands of people around the world will be moved, and encouraged to help us in our mission towards finding effective treatments!
A new Netflix documentary series called Diagnosis will premiere on August 16th. Episode #4 features a delightful little girl living with a KCNMA1 disorder. We are hopeful that this will raise awareness about this rare condition, and educate both health care professionals and families about how this condition can manifest itself in some people. And hopefully this will also help lead to getting additional physicians and scientists interested in this condition (and donors willing to help fund such research!), so that we can find safe and effective treatments for it.
So put this series in your Netflix playlist, and in the meantime, check out Kamiyah in the trailer below!
We’re happy to announce that we’re now set up to take on-line donations through our “Donate” link (top right). Use that link to donate via credit card, or alternately, send us a message to ask for our mailing address if you’d prefer to send a check. Donations are tax-deductible in the US for those who can otherwise deduct charitable contributions on their taxes.
We just got granted/approved for official non-profit status! Non-profits are registered at the state level. The next step is to apply for official 501c3 status with the IRS, which will allow us to provide tax-deductions for donations. So, we’re working on it!
Go to this link, which takes you to our forums, to see the “official” registration information.
We are hoping to compile a list of physicians or other medical professionals who are currently (or have recently been) treating people with KCNMA1 disorders. We hope that such a list will make it easier for physicians to communicate. It may also be helpful for any newly diagnosed people to find resources, or perhaps help those considering a move to a new location.
If you would like to share, please read this post on our forum, and then consider registering for our discussion forum and providing the information. Alternately, go to the “contact us” page and send us a note!
We’re going to be testing out this blog-like section of the website, as one potential way of getting out news of our activities. We don’t expect there to be many things posted or much progress made for a while, but we’re preparing ambitiously for the future.