Diagnosis and Treatment Update

September, 2018

No Andersen-Tawil Syndrome (ATS) and Keveyis Status

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 published that information and they have confirmed that variant to be benign, meaning not disease causing.  This means that I do not have Andersen-Tawil syndrome, at least from a genetic confirmation standpoint.  There still is a chance that from a diagnostic standpoint I could, but it is more likely that it is just Hypokalemic Periodic Paralysis with an unknown genetic variant.

I have been learning a lot about the infancy of DNA testing through this process and how results might not be results or might change over time as more information is learned about genes.  I have provided my raw DNA data to Fullerton Labs who is doing research into periodic paralysis so they can use it to possibly find more causative DNA variants in the future and help others who might be struggling for a diagnosis.

I also have an official diagnosis of periodic paralysis and a prescription for Keveyis.  Becky, at my neurologists office, works on the paperwork for special requests and she did a ton of paperwork to prove to Medicare that I need Keveyis and they approved it in about a week, which from my understanding may be a record.  I worked with my amazing neurologist, Dr. Hampton, on a treatment schedule and started about a week and a half ago.  We have a very conservative schedule because I am so sensitive to any medication, but my first dose was so low that I upped it after a few days with his agreement.  I have now been on a quarter of the normal prescribed dose for a week and am starting the feel the benefits already.

We got some plastic shelving for the garage to put stuff on to make more room for the trailer and trackchair since winter is coming up and we will need to put the plow on soon.  Normally if I tried to do something like this I wouldn’t be able to finish, or would have a paralysis attack right after I finished.  Today, I was able to complete the task and not feel like I was going to have an attack.  I also have only had to take preventative potassium once today and it is 5pm!  You might not understand how amazing this is, but for years I have been dealing with drop attacks weekly and multiple paralysis attacks daily.  Even with supplementing potassium alone I was still having about an attack a day.

I am excited to see the potential benefits this medication is going to bring me and am so grateful to Strongbridge Biopharma and my neurologists office for their assistance in helping make the ability to get this treatment so quickly once we decided it was the right next step.

I also want to thank Dr. Hampton for his amazing support.  He has worked with me for the past two and half years to try and figure out why I have been having all of these weird problems and made himself available outside of appointments so I could get testing and treatments as soon as possible to try and get me feeling better.  He has gone above and beyond when I know he is already as busy as anyone could be and am extremely grateful.  I am glad I found a doctor that was willing to partner with me in finding a solution so we could limit the amount of time to diagnosis and treatment.

Until next time.

Recent Tracks

Thanksgiving

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...

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Genetic Testing Results

Back in March I was made aware of discounted whole genome sequencing (WGS) from Dante Labs as part of an agreement with a periodic paralysis genetics support group I am a member of on Facebook.  I sent in my sample and have been waiting since then to get the results. ...

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Smoke is Clearing

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...

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