Results are IN :)

Kerissa • Jun 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!

******

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..🙁

By Kerissa Lee 23 Jan, 2024
Hi, friends, I had a whole other post ready to go with some good news, but instead, I have an urgent prayer request. I started experiencing sudden onset numbness, tingling, and weakness in my whole left leg, and it’s been so scary. 🥺 It just came on out of the blue. I was doing so well with physical therapy each week (able to walk fast on the treadmill and leg press 40 lbs), and now, I have to limp because my left leg is soo weak. I really want to avoid the ED as much as possible, so I saw one of my doctors today. She’s concerned I’m having a big motor nerve issue. 😭 The plan is to see a physical medicine specialist, have a nerve conduction study, get an urgent MRI done, as well as see my PCP and pain doctor on the 25th and 29th for further evaluation/testing. I know I already said this, but it really has been so scary to lose function so quickly. Can you pray that I will trust the Lord and not worry? It’s been very hard, so I’d really appreciate your prayers and support in the coming weeks. Thank you so much. ❤️
By Kerissa Lee 01 Jan, 2024
"Let us know; let us press on to know the LORD; his going out is sure as the dawn; he will come to us as the showers, as the spring rains that water the earth." Hosea 6:3
By Kerissa Lee 11 Dec, 2023
"This hard place in which you, perhaps, find yourself, is the very place in which God is giving you opportunity to look only to Him."  Elisabeth Elliot
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