This past Thursday, I received my mitochondrial whole genome sequencing results from Cincinnati. The report states that I have a missense sequence variant in my mtDNA.
“This variant, mt.13376T>C, results in the substitution of threonine for isoleucine at amino acid 347
in the ND5 gene.” Now that’s a confusing sentence! But at the same time, I’m so amazed at God’s wisdom and power in creating the human body! We truly are fearfully and wonderfully made!
Through the use of mutation prediction software, the lab said this amino acid substitution is predicted to be “not tolerated” and “probably damaging”…
My geneticist and genetic counselor said this sequence variant has never been reported before…! I wish I weren’t such a complicated case… They said it is possible that this change could be the cause of my symptoms, but they need more info to be sure. My dr. now feels that I should be evaluated by a mitochondrial specialist. She’s also going to order further mtDNA testing through an experienced lab down in California. The test is called nucSEEK: Comprehensive Sequence Analysis of the Nuclear Mitochondrial Exome. The dr. of the lab has found mutations between mitochondrial disease and CRPS. So I’m very interested in this. 🙂 Unfortunately, results won’t be back for more than 6 weeks!
In other news, my cardiology appt. went great last week! The dr. is so caring. She even gave me a hug when we said goodbye. :o) She’s very knowledgable about POTS and even trained in Ohio with one of the first doctors who learned how to treat POTS.
This coming Monday, I’ll be starting IV saline infusion therapy twice a week at the hospital. Each infusion takes 2 1/2 hours long! But hopefully this will help lower my high heart rate and decrease some of my POTS symptoms. If these infusions are helpful, then I’ll possibly get a port placed.
After my appt., I also wore a holter monitor (portable ECG) for 48 hours. I should get those results soon.
Hope all of you are having a blessed week. <3
P.S. Please say a prayer for my 89 year old grandpa (my mom’s dad). He’s in the end stages of renal failure, and it’s so hard to see him like this.. 🙁