Mitochondrial genetics appointment.

Kerissa • Jun 02, 2017

Hello friends,

My family and I got back from CA on Sunday.  It was a super quick trip, but we were able to spend a lot of time together which was so special.πŸ™‚

Our first two evenings there, I suddenly had terrible nausea and severe muscle weakness to the point that I couldn’t lift my arms or even get up to brush my teeth.  All I could do was lay on the hotel bed.  It was even so hard to hold my phone up.πŸ™ I couldn’t help crying because it was scary.  This didn’t happen at all when my parents and I traveled to San Diego in January.  I hate that I’m getting worse and feeling the disease progression. :'(  If I were home, I would have had to go to the ER.  At one point, I thought I’d need to go to the hospital in LA.  We don’t exactly know what caused these episodes—maybe a combination of very low blood sugar (despite being hooked up to my regular tube feeds and IV fluids), exhaustion from not getting enough rest, etc.  So for the rest of the trip, my family mainly pushed me in my chair (instead of me “wheeling” myself) so that I could save energy.  When we went to Universal Studios on Friday and Saturday, I didn’t wake up till the afternoon so that I would have enough strength.

Regarding the appointment, my mitochondrial geneticist spent 3 1/2 hours with me!!  He is amazing and so knowledgeable.  He hasn’t seen a new patient in more than a year because he mainly travels across the US and teaches doctors about gene sequencing and more, but he wanted to see me because I stood out to him!πŸ™‚ So grateful to be under his care!

In a nutshell, he explained that I have a multi-factorial (polygenic) mitochondrial disease which means it’s not just one gene mutation causing the disease—it’s a combination of gene variants that are contributing to my symptoms.  He believes the CHAT variant I have is modifying the TRAP1 (TNF receptor-associated protein 1) gene.  In his words, TRAP1 is a mitochondrial chaperone that is believed to protect mitochondria from the effects of reactive oxygen species-related damage.  Having CHAT and TRAP1 together is much worse than if I just had one or the other.  He said patients with both are in bad shape.  I have intestinal failure and many other things going on.  He agrees that my mitochondrial disease is progressive.  In his practice, 90% of his patients improve or stabilize with his treatment and 10% don’t…

He’s putting me on high-dose co-factors (antioxidants) and supplements.  He wants my blood CoQ10 level and blood “free and total” carnitine level checked.  Normal blood CoQ10 is under 4, but he wants my level to be way above 4 because he has found that a higher level is much more effective to help.  Once I email him the blood results, he will tell exactly how much of each antioxidant I need to take.

He stated that I shouldn’t go more than 2 hours without eating because fasting makes everything worse.

He also wants a migraine genetic panel done through this certain lab that is a division of Courtagen Life Sciences (he’s the medical director of Courtagen, and I had gene sequencing through them).  There are many genes (including pain genes) on this panel that I haven’t had sequenced before.  And the results will tell him exactly what migraine treatment is good for each variant that is found.πŸ™‚

He wrote up a very long report for me and my doctors which is so helpful!  He wanted to see me back in 6 months, but we’ll see him in a year instead because it gets expensive traveling and because I still see my mito dr. in San Diego.

Here are few pictures from the trip.πŸ™‚ Some of these I already posted on FB, but I know some of you aren’t on, so I wanted to share them here!

me and my siblingsπŸ™‚

My GI dr. told me to find these two famous paintings in the Huntington Library known as Pinkie and the Blue Boy. They face each other from across the room!πŸ™‚

The Blue Boy

The Huntington Library and Botanical Gardens in Pasadena was a highlight of the trip!!

the Gutenberg Bible!!

My family and I had a blast at Universal! It was so much fun, and we didn’t have to wait in line much at all because they let us use the front-of-line access since I’m in a chair!πŸ™‚That was a huge blessing!

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Today, I had a follow-up with my PCP.  She is going to order the migraine panel that my mito geneticist wants done.  She is also going to talk to my nephrologist and GI specialist to see about adding D5 (dextrose) to my daily IV Magnesium bags.  Hopefully it helps prevent those weakness episodes (as I had another episode a couple days after we got home) since the body can get energy fast from dextrose infused directly into the bloodstream.  Waiting to hear if my neurologist can order the blood tests.  In 2 weeks, I see my GI specialist again.  And tomorrow, I resume physical therapy..  Thank you for all your caring comments and continued prayers, especially after my previous post!  I love you all!πŸ™‚

Part 3 ❀️

By Kerissa Lee • 27 Apr, 2024
Read Part 1 and Part 2 if you missed it. ο»Ώ | Part 3 | After numerous days inpatient, I was ready to begin physical therapy at home and work my way off the TPN (IV nutrition). On February 19th, I ended up getting enrolled into a fairly new 1-year old program called “Hospital at Home.” It’s a weird concept, but those who do HAH are still considered inpatient—the only setting that’s different is you can sleep in your own bed and the nurses come to your home. You also are connected to doctors virtually through a tablet. In theory, that probably sounds amazing, but for complex patients like me, I regretted doing HAH because it was complicated and stressful. For example, the leg pain was still so severe, and each time I took pain medicine every 2 hours, I had to log onto the tablet and talk to the nurse who charted everything…. Even during the middle of the night, I had to show the nurse which meds I was taking and what dosage. It unfortunately wasn’t restful, and there were a bunch of other challenges while I was with HAH. By the next morning, I was definitely ready to be discharged from the “hospital” since a lot could be done outpatient. Around 11:45 AM on February 20th, a nurse practitioner came to my house to make sure I was medically stable and ready for discharge. She agreed I was because my vitals were perfect. She left, and another nurse was scheduled to arrive sometime in the afternoon to stop my TPN for the day. But, in the blink of an eye, things changed yet again and the nystagmus suddenly came back with a vengeance. I could barely see out of my eyes (because they shook so much), and when I went to lay down, I asked my mom if the heat was on. She said yes, but I felt soo cold. When the last nurse arrived to stop the infusion, she took my vitals which showed that I spiked a high fever out of the blue. I was so devastated by this turn of events and cried, “I can’t do this again.” 😭 I felt weary, down to my very bones. Experiencing all my usual sepsis symptoms (fever, chills, high heart rate and respirations, severe low back pain, etc.), I hit rock bottom and was extremely distressed that I had to go back to the hospital. πŸ˜” While the doctors scrambled to find a bed available for me, I physically got even worse. During that scary and emotional time, the nurse was so compassionate and caring. I know God in his loving kindness handpicked her especially for me that day. She stayed right by my bedside and encouraged me with words filled with hope. πŸ₯Ή She saw a devotional by Joni Eareckson Tada on my nightstand and asked if I was a believer. I nodded, and she immediately began praying for me. 😭❀️ In the midst of this whole trial, some days God felt far away. πŸ₯Ί I could really resonate with the psalmist’s cries—“Why are you so far from saving me, from the words of my groaning?” (Psalm 22:1) But when my nurse prayed for me, it was in that very moment I felt God’s presence and peace so near. It was like he knew I needed some tangible comfort to hold on to. I felt so seen and loved by him. I’ll never forget the sweet nurse he sent and the prayers she lifted up. ❀️ Through her, the Lord revived my soul to prepare me for this latest battle. Up next: Part 4…

Part 2 ❀️

By Kerissa Lee • 16 Apr, 2024
Read Part 1 if you missed it. ο»Ώ | Part 2 | Just 2 days after I was discharged from the hospital, I started experiencing severe nystagmus (shaking eyeballs) along with nausea, vomiting, and retching. I didn’t know what was happening and was again so scared. πŸ˜” I was told to go to the ED since I wasn’t tolerating any of my oral medications. The doctors gave me IV fluids and lots of different IV anti-nausea and pain meds. They told me I needed to be admitted and talked with the neurology and internal medicine departments to see which one should admit me. But….to my dismay, both teams made a bad judgment call when they decided not to have me admitted (my mom has since talked with a patient advocate for guidance on what to do if “this” happens again). Even the ED observation unit didn’t want to take me because I was “too complex.” πŸ₯Ί I was sent home still vomiting and in so much distress (with mitochondrial disease, anything like untreated vomiting/diarrhea is a big “no-no” to put it simply because it’s a huge stress on the metabolic system). My body was really struggling, and I experienced very drooping eyelids and worsening weakness all over. The next day, I was seen by my PCP’s colleague, and after much discussion, he directly admitted me to the internal medicine floor. I’ll always be grateful to him for his quick action and the very thorough letter he wrote. There were sadly no beds available, so I waited at home. But, the following day, God was so kind to bless me with a private room that became available. Once I was inpatient, the doctors tried to get a handle on the nystagmus and vomiting. All the usual IV anti-nausea meds didn’t resolve things, so they gave me an “off-label” medication that can sometimes help nausea. That did the trick, but another issue soon arose—I started showing signs of mental confusion. I remember not being able to explain what was on my mind, and if I did talk, it didn’t make sense! For example, 2 nurses were in my room helping each other, and I made a comment about them being married. 🫠 Another instance, my family later shared that I asked them if they could see the ocean out the window. I can’t recall a lot of my time in the hospital because I was so confused.. My mom wondered if the confusion was from the off-label nausea medicine, so the team immediately discontinued it. By God’s grace, that did the trick…. Hospital life was definitely a roller coaster. You know that whack-a-mole arcade game? Once one problem ended, another popped up. After not receiving proper nutrition for many days, I started trying to eat orally again and resumed j-tube feeds, but for some reason, I wasn’t able to tolerate either like before. My stomach became so huge and distended….even with the feeding pump setting of just one teaspoon per hour. It didn’t make sense, especially since I tolerated a high rate of tube feeds two weeks earlier when I was admitted for the neurological weakness. I kept trying to increase the tube feed rate, but my GI tract didn’t tolerate it. The doctors brought up the possibility of TPN (IV nutrition). I was very discouraged and so homesick. With no progress increasing the formula rate, I did in fact have to be placed on TPN. Emotionally, it was a struggle dealing with this new problem on top of the mitochondrial crash.. 😒 Up next: Part 3…

Part 1 ❀️

By Kerissa Lee • 13 Apr, 2024
Dear friends, It’s been almost 3 months since I last blogged.. So much happened, and it’s very hard to believe how quickly things changed. I know many already know the whole story. But for those who haven’t heard it, I will try to recap here. It’s quite the tale, but I wanted to share it on my blog to look back on because God truly carried me through the unimaginable. ❀️ When I requested urgent prayer for the sudden onset numbness and weakness in my whole left leg back in January, I had a routine follow-up already scheduled with my primary care dr. on January 25th. I was so thankful I could see him right away for this new issue. I showed him my worsening weakness, and he sent me straight to the ED to make sure I didn’t have a condition called Guillian-Barre Syndrome (GBS). While waiting for a bed to open up on the neurology floor, the muscle weakness spread to my right foot and up my right leg to the point that I could barely lift both legs up. Words can’t express how truly scared I felt that I was going paralyzed. πŸ₯ΊπŸ’” It was the hardest time of my life, and I continually wept, not just because of the physical pain (which was the worst leg pain I’ve ever experienced) but also because of the emotional distress.. The “foot drop” in both feet was so severe that my soles were almost parallel to the hospital bed when laying down. It was devastating. Due to the weakness, I couldn’t even walk to the bathroom and had to use a bed pan. The team was concerned about possible heart/lung issues, so I had to be placed on a continuous cardiac telemetry monitor (which is different than the standard one). Twice, they asked me if I’d be okay with life-saving measures like getting intubated (placed on a ventilator) if the weakness kept spreading like it was.. I underwent countless neurological exams by nurses, medical students, residents, and attending neurologists. To rule out GBS, a spinal tap had to be done as well as extensive brain and spinal MRIs (cervical, thoracic, lumbar, and sacral). Not feeling well, it was incredibly difficult to lay in the very narrow MRI tube for more than 2 1/2 hours without a break. When GBS was ruled out, we still didn’t know what was causing the weakness. To be honest, in a way, I WANTED to have GBS because they explained GBS has a good treatment. So, not knowing the outcome and prognosis was very hard. 😒 Looking back, I remember how I shared a verse from Isaiah when I wrote my “2023 reflections” blog post at the beginning of this year: “Let him who walks in darkness and has no light trust in the name of the Lord and rely on his God” (Isaiah 50:10). When I posted that on January 1st, I never could have imagined how dark life would get. I knew God had a plan, but I was still so terrified. And there was nothing I could do but trust him (even though my faith felt so weak while in the thick of it). I cried so much and struggled with great fear. But in the midst of that dark time, I thought of a well-known passage from 2 Corinthians: “So we do not lose heart. Though our outer self is wasting away, our inner self is being renewed day by day. For this light momentary affliction is preparing for us an eternal weight of glory beyond all comparison…” (2 Corinthians 4:16-17). A phrase stood out to me: “light momentary affliction.” This trial weighed heavily on my shoulders….it definitely didn’t feel “light” OR “momentary.” I had so many questions. Could I surrender all and trust that God has my best interests at heart? I prayed that he would grant me the eyes to see everything from an eternal perspective and use this hard time for his glory and good purposes. After spending 9 days on the neuro floor, I was sent home.. The neuro team attributed this whole event to a “very unusual mitochondrial crash.” And only time would tell how I would recover. Up next: Part 2…
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