Day 10!- Genetics evaluation

Hi, everyone!

This morning, I saw the mitochondrial disease specialist and genetic counselor in the Human Genetics department at Cincinnati Children's.  We went over my history/new symptoms and discussed my nuclear mitochondrial exome sequencing results.  

For those new to my blog, I had my nuclear mitochondrial genes sequenced through a lab called Courtagen Diagnostics back in August of this year.  The lab found several variants of probable significance, but the medical director (Dr. Boles) wanted more information about those specific mutations, so he tested my mom and dad's DNA in October.

So today, we discussed the new results which are now "likely positive" instead of "probable or uncertain":

My CHAT mutation is paternally-inherited.

And the remaining three big mutations (in the TRAP1, GARS, and RYR1 genes) are maternally-inherited.

Genetics had a conference after this appointment with one of the neurologists that I saw back in April.  They both think that the CHAT mutation is what's causing most of my symptoms.  In their words, I "can't synthesize the enzyme choline O-acetyltransferase" which is why I'm having neurologic problems.  The TRAP1, GARS, and RYR1 mutations may also be causing some of my symptoms, but they're going to focus on the CHAT variant first as it's the most important.

I see Neurology on Friday, but the doctors are also going to squeeze me in somehow tomorrow because they want to do more muscle testing.  Not exactly sure what kind yet, but I do know it's not another EMG..  They said it has to be done here before I head home..

Genetics also wants to test my sister and my younger brother (and possibly my older bro) to see if they carry the CHAT gene.  This will be done through Courtagen as well if insurance agrees to cover the additional testing..

I will update again soon!

P.S. Totally forgot to mention that my GI manometry testing is normal in that I don't have a structural GI disorder..  I guess that's good news. :)  But this means my dysmotility is functional...  What does it mean by functional?  For example, functional diseases can't be seen on, say, an MRI.  Complex Regional Pain Syndrome is a functional disorder.  You can't see it on MRI, but there still is a problem with the nerves..  Hope that's easy to understand. :)