Genetic Testing ResultsAugust, 2018
Genetic Testing Results
I just got my results and we found out that it looks like I have Andersen-Tawil Syndrome, which is a type of periodic paralysis. I have a variant of unknown significance (VUS) on the KCNJ2 gene that has been linked to Andersen-Tawil Syndrome in one study. There needs to be further study to confirm if this variant is disease causing, but with my symptoms being consistent with Andersen-Tawil Syndrome along with this variant, there is a good chance it is disease causing in me. I watched a webinar recently with a geneticist who deals in rare disease, and she said if an VUS comes back with a disease that the symptoms can explain then she treats the patient as if that is their diagnosis.
We have been using my Klor-con/ef medicine as a preventative treatment lately and have found it very effective. I have gone from having multiple paralysis attacks daily to an attack every few days. We are working with my neurologist to see if we can try out the new periodic paralysis drug Keveyis from Strongbridge Biopharma that a lot of periodic paralysis patients have had success with. It is the only FDA approved treatment for periodic paralysis at this time.
Strongbridge recent sponsored the Ride for Rare Diseases, where Gabriel Low rode 3000 miles across the US to raise awareness for primary periodic paralysis (PPP) prior to competing in the USA triathlon national championships and placed high enough to move on to the world championships. Gabriel has PPP and placed high enough to qualify for the national championships even while having a PPP attack during the race.
I am excited to see how we can change my treatment to try and help me get a better quality of life.
Sorry I have been so quiet for a while, but life has been interesting. After being approved for Keveyis, I had to work through what they call a titration schedule to determine the best dosage for me to take. I am very glad I did too. When I tried to change from 25mg...read more
So, the past couple of weeks have been interesting. I finally received a response from the lab (Illumina) that originally reported that my variant might be related to Andersen-Tawil syndrome. They stated that they have done more research since they originally...read more
The air has been so bad in north Idaho lately due to fires in California, Washington, and British Columbia Canada that I haven't been able to get out in my trackchair. It got so bad again this year that I had to wear a mask in the house because the smoke was...read more