In the next few weeks I will begin full genome testing. This is not the same as being genetically tested for Myotonia. I am not certain what this will reveal (obviously the Myotonia will be revealed, I am referring to opening the door beyond that). Due to certain fortunate circumstances, I have been able to talk to one of the leading authorities in Molecular Genetics at the academic medical center where I work. They will be mapping my entire genetic code. This is being performed by a (non-clincian)research geneticist, the authority mentioned above, and a Genetic Counselor. This runs to a volume of around 1Tb of data. With the current technology the material required is one drop of blood and about 17 hours for processing.

Since it was my intent to donate my body to science for genetic research upon my passing, I never expected to be able to do it while I was still healthy and alive. So, I am absolutely going for it.

My goal is to get as much information about Myotonia as possible, make it availabe here, and also help a current study being performed for the first time in about 6 decades regarding Myotonia (for those who might have access Ref: JAMA 10.03.12 Vol. 308, No. 13 pg. 135).

My hopes...

Find out which drugs really work and which don't or at least get a better idea of the classes.

Determine if there are markers for certain drugs that make them dangerous. Example being Mexiletine. In addition are there certain ways to tell which drugs can be metabolised. (Trust me on this one, not everything you take can actually be used by your system - 25% of people on Plavix can not metbolize it, the above test will confirm things like that.)

Is there a genetic marker for Hyperthermia? Does Myotonia always beget hyperthermia or vice versa?

Why are my bones 15-20% thicker than average?

Are there really three Myotonia's... more...?

.. a whole bunch of new data surrounding linked traits, mitochondrial lineage, and other things. Who are we?

I will post all information I can once the testing is done. Including release of information to medical professionals or to certified scientific study groups. As I noted above, I am donating my body, well genetics to science now instead of later. I already have a good life with Myotonia. My hopes are to help for the future. Also, sorry about being vague about who and what at the top of the page, until this is done, I don't want to reveal sources until they are approved and approve.

Here's to hoping this opens several new doors.

Type of Myotonia: Acetazolamide Reactive (Testing)

Country: US

If he wants another freak to donate blood, I'm game. ;) I have several things that freak out doctors regularly, not just MC and its associated weirdness.

Type of Myotonia: Thomsen's

Country: USA