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!

******

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 January 21, 2025
Hi, friends, First off, the piece of art above was hand lettered by me last year before all “this” happened. I’m sad to say that I only have 3 or 4 pieces left to share until I run out.. 😢 I went to see my neuromuscular neurologist in Seattle on January 8th. My neck weakness continues to progress which has been so scary. He said I need to get a neck MRI and some specific blood tests to check for polymyositis. If it is normal, though, his opinion is that this is mitochondrial disease progression. 😔 I haven’t seen my mitochondrial specialist in San Diego in more than 3 years (I started seeing him in 2014!), so I’m sadly no longer considered his patient. The neurologist sent a new referral to him, but I’m not sure if it will be accepted.. He’s almost 80 years old (one of the pioneers of “mitochondrial medicine”). And I don’t know if he’s cutting back on “new” patients.. Even if he did accept my case again, I’m currently not physically well enough to fly down from Oregon.. 😞 My quality of life continues to worsen ever since this unusual neck weakness started this past October. I know I’ve said this before, but I truly miss doing all of my favorite things (like hand lettering art) or even simple tasks (setting up my own IV infusions, vacuuming, washing hair, etc.). 🥺 Before October, I was even starting to drive to physical therapy or the grocery store. Yes, I’m 32 and still don’t have my driver’s license due to being preoccupied fighting mitochondrial disease for almost 15 years now. I never shared the exciting news that I was able to get my driver’s permit over 2 years ago, and it was so fun to drive myself to appointments close to home. Now, I can’t do any of the above which has been difficult to process. I shed tears every now and then just thinking about all that has changed. 😢 I’m having to go to bed around 6:30 PM to lie down and rest my neck. But I’m so uncomfortable from the pain, and I don’t fall asleep until after 3 AM every night. So my pain dr. referred me to palliative care. 😢I know it’s not hospice, but I’m still sad we’re at the point where I even need palliative care. Unfortunately, they’re most likely going to deny the referral (if they haven’t already) because we were told they only see cancer or heart transplant patients. I even checked if there’s palliative outside of OHSU, but they, too, see only oncology. It’s so hard that cancer gets a lot of funding, research, and support, and those with rare diseases are left “on their own.” It’s isolating and lonely. 🥺 I saw my PCP again, and he is just the best and full of compassion. ❤️ He placed the neck MRI as urgent and also ordered more labs to keep pursuing answers since all this is such an atypical picture if it was mito progression.. In case palliative turns my case down, my dr. told me that the internal medicine clinic has a complex and chronic pain management clinic (different from the pain center that I’ve been going to since 2011). He referred me to them to try and help me get more comfortable. I have a wonderful team of doctors and an amazing naturopath, but I’m even going to see a functional medicine doctor for the first time on the 23rd. Praying he could maybe have some additional insight on everything and will offer some fresh ideas for treatment as well.. I also have an appointment with the metabolic geneticist on the 28th.. I’ve read through the Bible more than once, but it’s amazing how the Lord points us to specific verses at just the right time. I don’t know about you, but sometimes I think, “I don’t remember reading this before!” Paul David Tripp’s newest devotional Everyday Gospel has been so very encouraging. He shared 2 verses from the book of Genesis where Jacob said that God “answers me in the day of my distress and has been with me wherever I have gone” (35:3). Several chapters later, Jacob also said that God “has been my shepherd all my life long to this day” (48:15). When I read that, I felt such peace. God spoke to my heart to remind me that He is with me and for me….in every circumstance no matter how hard. ❤️ Could you please pray that I can have the MRI completed this month and not have to wait many weeks? Pray that all of my doctors will have wisdom as my case is so complex. Lastly, could you pray that I will persevere and keep walking by faith? I feel so weary, not only physically but also mentally and spiritually. 😥 Thank you so much for praying for me all these years. ❤️
By Kerissa Lee December 13, 2024
"He alone is my rock and my salvation, my fortress; I shall not be greatly shaken." Psalm 62:2
By Kerissa Lee November 9, 2024
“Be still, and know that I am God.” -Psalm 46:10 
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