New Discoveries

Hello All,

After many months of being very sick with extreme weakness, brain fog and more paralytic attacks with  "ups" becoming shorter and my "downs" getting longer, I am finally doing much better. I have found a good balance that is working for me for the present time and I hope it continues.

I have attempted to put all of the little energy I have had into continuing to read and research regardless of how bad I am feeling and it has been very difficult. I did not want to give up. I have made a few important discoveries and continue to try to put it together. One of the important things I have wanted to share is that I finally had a breakthrough with my own genetic research, and my information will hopefully help all of you understand things that up until now, we have not been able to do.

I have been trying to understand how to decipher all of the information I have in my own DNA test results. I finally figured it out after a few months, and now I am painstakingly able to sift through the information and numbers and understand them somewhat.

I now know that positively I have Paramyotonia Congenita (PMC) a form of Periodic Paralysis. I have three mutations that are known to cause it.

Exon 5i c.703+55C>T - p.(=) SCN4A_00004
Exon 6 c.864C>T - p.(Asn288Asn) SCN4A_00009
Exon 8 c.1167T>C Tyr389Tyr r.(?) p.(=) SCN4A_00012

I also discovered that one of those mutations above is responsible for what is called "enhanced slow inactivation" . This is related to how long the episode of paralysis/weakness may last. If one has "enhanced slow inactivation," it causes the episodes to last longer. My research also led me to the knowledge that a lower pH will help shorten the length of weakness or prevent it.

PMC has now believed to be a form of Periodic Paralysis and is found to accompany Hypo PP, HyperPP and Normo PP, but usually hyperPP and normo PP.

Of interest in the PMC diagnosis is that people from Ravensburg, Germany have the highest concentration of it. My genealogy indicates I have one genealogy shows that one of my family lines is from Ravensburg, Germany!

I too have five mutations at KCNJ5. A new form of ATS has been discovered at that mutation. This is also called Long QT 13. I have 24 mutations at CACNA1C, which is related to mutations for Normokalemic Periodic Paralysis.

I discovered that for sure I have the mutation for Long QT 1:
KCNQ1:c.1638G>A (p.Ser546=) AND AllHighlyPenetrant

"AllHighlyPenetrant…Term used to represent disorders for which a pathogenic allele would be expected to be expressed as the disorder." This means if you have this mutation...you more than likely have the condition.

So it would seem I have PMC and Long QT 1 and the possibility of either HyperPP and/or Normo PP and/or ATS.

No wonder I have been so ill for so many years!!

If you want to find your genetic mutations I believe it is best to have “whole genome” testing done. It is unbiased and everything is revealed.

Until later…….