Hard News

Kerissa Lee • August 24, 2024

"Share in suffering as a good soldier

of Christ Jesus."

2 Timothy 2:3

Dear friends,

This was a hard post to write, and I’d really appreciate your prayers.

I received my whole genome sequencing results, and I’m saddened to say that a molecular cause was not found. 🥺 In other words, I have a confirmed Mitochondrial DNA Depletion Syndrome based on 2 muscle biopsies, but the doctors still cannot find the genetic mutation causing my mitochondrial depletion. It’s discouraging that my case is so rare. I saw my metabolic geneticist, and she came up with a plan.

She recommends that I apply to the Undiagnosed Diseases Network through the NIH (I am “diagnosed” but also “undiagnosed” at the same time). There are multiple clinical sites throughout the US (the closest being Seattle). The UDN researches patients’ DNA to try and find new gene mutations, but they unfortunately don’t accept every single applicant..

She is also trying to get in touch with a biochemical geneticist at Children’s Hospital of Colorado who is running a research study called proteomics. I don’t totally understand it, but similar to genomics (the study of genes), proteomics involves the study of proteins in cells. If there are any abnormal proteins found in the mitochondria, then this information could help guide them to look closer at a specific gene. This geneticist in Colorado might only be accepting certain patients, though, so she hopes to get in touch with him for additional information..

Some more hard news is that I received my sleep study results. It was quite a shock to find out that I was diagnosed with Central Sleep-Disordered Breathing. Central sleep apnea is different from obstructive apnea in that the brain doesn’t send proper signals to the muscles that regulate breathing. During the study, I stopped breathing 91 times. 😢 I didn’t even hit the “deep sleep” stage, so it was noted that my numbers were likely underestimated. I had a long appointment with my sleep specialist yesterday, and we’re going to try a type of ventilator at night again, along with possible medication assistance to “glue” together my fragmented sleep. It will be a lot of trial and error..

These last several weeks, it's been rough dealing with my neurological tremor symptoms. 😔 We think it’s due to not getting sufficient sleep. I mentioned in past posts that the neuromuscular clinic declined to see me as a patient, but I was hopeful they would change their mind after my PCP talked with them. Well, they still rejected me which was disheartening since OHSU is the top hospital in Oregon. 🙁 One of my doctors referred me to a movement neurologist for my tremors. Movement neurology is a different sub specialty than neuromuscular medicine, so I’m waiting to hear if he’ll accept me.. This doctor actually goes to my church, so we’re praying I can get some help.

On top of all the above, my pain dr. recently shared some concerning news. She didn’t want to scare me, but she explained that there’s a newer law in Oregon where pharmacists can sometimes override a doctor’s prescription and not fill pain medication. 🥺 My leg pain has been so severe lately, and I was shocked by this news that it could possibly get harder for my pain meds to be filled in the future. She also said it’s so sad that a few “bad apples” (people who abuse drugs and overdose) can ruin the “whole basket.” Yet another issue to leave in God’s hands and entrust to Him..

The Lord in his loving kindness sent some timely encouragement through Randy Alcorn’s recent blog post: “God Knows Exactly What Suffering He’s Called Each of Us to Endure.” It was so good, and I hope you read it as well. ❤️

Even though these test results were not at all what I was expecting, it’s not a surprise to God. He is faithful as I continue walking on this path set before me, and I thank him for the grace he sends to help me persevere each day.

I would so appreciate your prayers for the following issues:

1. That the Undiagnosed Diseases Network could accept my case and be able to research my genome and isolate the gene mutation causing my depletion.

2. That the biochemical geneticist in Colorado would be open to letting me be a participant in his proteomics research study.

3. That the treatment for my central apnea helps and that I will be able to tolerate the ventilator and/or medication.

4. That the movement neurologist could treat my tremor (it’s challenging to do my hand lettering art with such shaky hands). I did hand letter the above verse by using one of the new techniques I learned from my neuro-occupational therapist, but it’s still not the easiest.

5. That I will continue leaning on God and not lose heart. It’s been a long and weary journey with lots of waiting these last 14 years, but the Lord is walking beside me every step of the way.

Thank you so much for your love and support, friends. ❤️

< Older Post Newer Post >

Difficult trial 🥺

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. ❤️