What to do if you have symptoms which are similar to those with a KCNMA1-related disorder?

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. If you contact us, our answer will almost certainly be: “Sorry, we don’t know and we can’t tell you”. This is a question which should be directed at your personal physician who has access to your medical records and the ability to examine and directly discuss your symptoms with you, all of which are necessary to consider this as a possible diagnosis. But that doesn’t mean KCIAF can’t help provide education which will hopefully allow you and your physicians to come to some conclusion. At that point, a decision can be made about whether it might be helpful to perform one of many different types of genetic tests which include KCNMA1. See additional information on the KCIAF blog related to information you can share with your physician and read about KCNMA1 disorders and perhaps ask general questions on our forums.

Are the symptoms I saw on the Netflix episode KCNMA1-specific, or could this be something else?

One of the most important things to keep in mind is that any one symptom seen in a person with a KCNMA1-linked disorder can also be found in many other medical conditions. For example, the spells of stiffening or paralysis (“dyskinesias”) which are seen in one particular form of KCNMA1-linked channelopathy can be identical to the dyskinesias seen non-KCNMA1 disorders. In addition, there are several things which may look to an observer like a dyskinesia, but in fact be something else (for example, an epileptic seizure, a psychologically-related event, etc). Thus, it’s important to think about (in consultation with your physician) what sorts of medical conditions can also cause the particular symptom you are experiencing.

Some people have had some symptoms which can be seen in KCNMA1-linked channelopathies for a long time, and whose doctors may have not been able to establish a diagnosis. In those cases, it may be helpful to review whether previous testing may have already included KCNMA1-mutation testing, because KCNMA1 has been only recently added to certain genetic testing “panels” (which are tests which look at many dozens or hundreds of genes at the same time). A list of those genetic testing panels can be found in “Supplemental Table S2”, towards the end of this article.

Where can I find information on this condition to take to my doctor?

It would likely be very useful to call our doctors attention to recently published article on KCNMA1-linked channelopthy we’ve already mentioned above. This is certainly a very rare condition and certainly no medical professional can be expected to know details of more than 2000 “rare” conditions which exist.

What does the KCNMA1 gene do, and what does a mutation in this gene mean?

Read this page for information on KCNMA1 intended for a general audience.

What is the role of KCIAF for KCNMA1 patients?

Our mission at KCIAF is to provide education and resources for those with a diagnosis of a KNCMA1-related condition, and we don’t provide any medical advice. However, if you think you may possibly have symptoms which could be caused by a KCNMA1-linked channelopathy, feel free to register and post on our forums. You may find other patients in your area that would be willing to provide contact information for their neurologists and other physicians who have actually treated patients KCNMA1 mutations. The KCIAF forums also serve as a central ‘meeting place’ for patients, families, and physicians to share scientifically vetted information as what we know about this new and rare disorder grows with the number of patients diagnosed.

How Can I Help?

  • If you are a confirmed KCNMA1 mutation patient, KCIAF has partnered with Sanford Health Coordination of Rare Diseases to begin a major project to comprehensively catalog symptoms associated with KCNMA1 mutations.

  • Please encourage your doctors to participate in the KCIAF physicians-only forum. Since this disorder is so rare, sharing information is critical. One thing we hope to understand better is how patients respond to standard seizure or dyskinesia medications.

  • You don’t need to be a KCNMA1 patient to help! We welcome involvement from anyone who wants to help! We particularly need help with website maintenance, fundraising, and non-profit administration. If you would like to help, contact us through the web portal.

  • Donations are always appreciated! We hope to raise enough money to create welcome packets for the newly diagnosed, for the 1st KCNMA1-linked channelopathy patient meetup, and for education (patient and physician). You can donate here.