The Long Awaited DNA Results: Part 2

Kerissa • October 3, 2013

The following two mutations are ones that are likely related to my mitochondrial disease:

  • Courtagen found a mutation in the CHAT gene (choline O-acetyltransferase).  Dr. Boles said my genetic variant in CHAT might contribute to the complex disease picture in (me).
  • The second mutation was found in the TRAP1 (TNF receptor-associated protein 1) gene.  My genetic variant is in the ATPase domain of the protein.  These mutations are thought to “predispose towards disease due to defects in antioxidant defenses.”  People who have variants like these have chronic fatigue, pain (now I know why I have Complex Regional Pain Syndrome! :), and G.I. dysmotility.  And I deal with those three symptoms..

Dr. Boles said CHAT mutations respond favorably to anticholinergic esterase inhibitor treatment, and he also wrote that TRAP1 mutations can respond favorably to aggressive antioxidant therapy.  That’s great news!

In addition to the GARS and RYR1 mutations that were found, I mentioned in Part 1 that Courtagen found 19 other possible disease-causing mutations.  This makes my case even more challenging..  I know I’ve said that before, but just in case you forgot..  I could possibly have a polygenic disease from multiple variants combined.

So in order to figure out what variants are likely causing my “disease,” Dr. Boles wants my mom and dad to be tested.  Courtagen is sending saliva kits to my parents, and their tests will be completely free of charge.  This laboratory is amazing!  Their tests will help Dr. Boles with my test interpretation.  This is going to take another 5-6 weeks..  My patience sure is being stretched.. lol

So in the meantime, stay tuned!  We’re SLOWLY BUT SURELY making progress!

One of my friends shared this quote with me recently, and I thought it was just perfect!!

    October prayer request

    By Kerissa Lee • October 19, 2025
    Dear friends, At the beginning of October, I started taking a new medication for the autoimmune disease. I thought I was tolerating it just fine, but after several days passed, I began experiencing nausea, loss of appetite, weakness all over, and increased pain. 🙁 It’s like I’m experiencing another “mito crash.” I found out that this specific lupus medication affects mitochondria. That is, it causes an overproduction of reactive oxygen species (ROS). This, in turn, causes cell damage and oxidative stress. I sure wish the rheumatologists would have known about this before prescribing. But I have to remember that Mitochondrial DNA Depletion Syndrome is rare, and they’re not “mito experts.” Anyways, the last time I felt like this was back in May.. I’m so grateful to God that I haven’t needed to be hospitalized from this, but at the same time, I’m also sad that this happened at all, especially because I had such a nice stretch of stable health. I’d really appreciate your prayers, that this muscle weakness can resolve soon, and that this increased pain all over will get back to my baseline. Every time I have a “mito crash,” it feels like I’m fighting the flu which always sucks. The pain has been hard to bear. And whenever I’m in the thick of it, it’s difficult to remember that this too will eventually pass. 😢 Pray that I will endure and follow Jesus’ example like this passage from Hebrews 12:1-2– “Let us run with endurance the race that is set before us, looking to Jesus, the founder and perfecter of our faith, who for the joy that was set before him endured the cross...” Thank you all so much for praying for me. ❤️

    Thank you! (+ a prayer request)

    By Kerissa Lee • October 4, 2025
    "Count it all joy, my brothers, when you meet trials of various kinds, for you know that the testing of your faith produces steadfastness." James 1:2-3

    Praises & Prayer Requests

    By Kerissa Lee • September 3, 2025
    "The steadfast love of the Lord never ceases; his mercies never come to an end; they are new every morning; great is your faithfulness." Lamentations 3:22-23