Hard News
"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. ❤️
