Results are IN :)
Kerissa • June 26, 2013
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!
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..
Dear friends, I just wanted to thank you all so much for praying for me during my abdominal surgery on August 6th! 💚 All of your messages/emails really encouraged my heart! If you missed my previous post, I had to have an unexpected surgery to take down the jejunostomy tract and repair an enterocutaneous fistula (a rare complication from having a j-tube for 12 years). I truly felt your prayers, and the Lord answered so many of them as well! 🥹 My surgeon only had to remove about 1 1/2 inches of my small intestine which is great news! I was in the hospital for 4 days because my blood pressure was low and pain control was rough (it’s a long story, but pain management is complex due to a specific medication I take daily at home..). But aside from that and having an allergic reaction to the surgical glue, I’ve been healing well. Thank you again for praying!! God has been so faithful throughout this journey. I got a visit from my sweet foster nephew when I was in the hospital (2nd picture)! 🥰 I can’t wait until I can show you his face—he’s so adorable. 🩵 I’ve mentioned this before, but an important medication I take causes severe insomnia (still not falling asleep until anywhere between 3 AM-9 AM). 😞 But I saw my naturopath this past Monday, and she’s going to treat me for suspected cortisol spiking up during the night (which disrupts the body’s circadian rhythm). I’m thankful for the wisdom God gives her, and I’m excited to see if this treatment will help! It will take 6 weeks to see if there’s any benefit, but I first have to specially order it..
"God is our refuge and strength, a very present help in trouble." -Psalm 46:1
Hi, friends, I thought I wouldn’t be posting for a while since I’ve been doing really well, but I’ve hit a bump in the road again and would appreciate your prayers. 💚 This past Tuesday the 21st, after nearly 12 years living with it, I had my jejunostomy tube removed completely. I thought it was going to be a simple process and that the stoma (hole) would close quickly within 30 minutes like they said. That didn’t happen, though, as the stoma started draining a ton! I couldn’t even leave the lobby and had to go back up to the clinic on the 8th floor to have an ostomy bag placed to collect all the small intestinal digestive juices that continually drained. Unfortunately, I’m experiencing a very rare complication called an enterocutaneous fistula. 🥺 I’m disappointed this is happening, but I’m not exactly surprised since my whole medical case with Mitochondrial DNA Depletion Syndrome has been rare from the very beginning.. I also don’t heal well due to connective tissue problems from Ehlers-Danlos Syndrome (case in point: my port site issues back in May when I had to have a new one surgically placed on the other side of my chest).. 😞 The clinic told me to keep emptying the ostomy bag and monitor the output. It wasn’t a fun 2 days. This whole process has definitely made me so grateful to God that I’ve never needed something like an ileostomy! TMI, but I lost almost a whole pound of fluid because so much was gushing/spurting out of the stoma every time I ate or drank. Losing so many electrolytes, I started experiencing symptoms of dehydration—weakness, high heart rate, and headaches. So yesterday, I had to go back and see the surgery resident who basically placed another j-tube (it was so painful again!). 😭 This is a temporary “plug,” and I’m bummed to say that I have to go to the operating room to have the jejunostomy tract taken down and the fistula repaired. This surgery will be happening as early as next week (it depends on my surgeon’s schedule).. She said it will be complex, especially because adhesions (scar tissue) form when a person has multiple abdominal surgeries.. I lost count what number this surgery/procedure will be, but I do know I’ve had more than 20! 😞 I know God is with me wherever I go and will supply me with the strength to endure yet another surgery like he always does. But, I’m still sad that I have to have more incisions added to my body. I shared the lyrics to this song before on an old blog post (the song is called It Is Well With My Soul by Matt Redman), but it immediately came to mind again when I was thinking of scars. As the song below said, it’s a reminder to me that my scars can be a testimony to others of God’s grace in my life and how he has brought me through every single pain and sorrow. In the Bible, I’ve always thought it’s so neat that Jesus still had his scars after he rose from the dead—he had a new body, and yet, his scars were still visible. ❤️ Our scars are a sign of grace in our lives Oh Father, how You brought us through When deep were the wounds And dark was the night The promise of Your love, You proved Now every battle still to come Let this be our song It is well (it is well) With my soul (with my soul) It is well, it is well with my soul
