2019 Mitochondrial disease appointment recap

Kerissa • Aug 17, 2019

Hey friends,

First of all, I’m sorry it’s been so long again since I last blogged. Last month, I had my mitochondrial appointment in San Diego—traveling and the trip in general was hard physically (more details below), so when we got home, I had terrible nystagmus and other rough mito symptoms. And then, 2 weeks after that, I had an appointment with my pain doctor in Seattle. So it’s been pretty busy!

I also never mentioned here that I got a little job in January. I am a hand lettering artist with a company called Punkpost (you can look at their website here: Punkpost.com ). If you look around on the site, you might find a picture of me! I create card art designs for the company, and I also hand letter customers’ messages in the cards! This has truly been a gift from the Lord to be able to work from home and earn a little money! Here’s some fun news: I designed a Father’s Day card a few months ago, and for the whole month of June, it was the second most sold card out of all the Punkpost cards!! If you have Instagram, you can see the cards I’ve designed so far and also all of my other lettering art! And sometimes, I post pieces on there that I don’t post on Facebook. My IG account is @kerissa_kreative. It’d make my day if you followed along with me on my lettering journey!

But back to the San Diego recap.. Even though we’ve been going to SD for the past 5 years, this latest trip was kind of a disaster. I won’t go into all of the details because it would take too long to type, but I will tell you one of the biggest things that happened…

We had a lay-over in San Jose to change planes, and an older lady who lives in San Jose took from the carry-on luggage (the area above the seats) the bag that carried my adaptive-servo ventilator because it looked so very similar to her c-pap bag.

So, when I was getting ready for bed at the hotel in San Diego, my dad started setting up my machine. Only…it wasn’t my machine. Since the lady took my ventilator bag, we took hers and had no idea at all that she took mine until we opened the bag. We were all so upset and shocked, and we didn’t know who to call or what to do!!

By God’s grace, my dad found a sticker on her sleep device with the sleep company’s contact info, so he called them the next morning, and they were able to look up her contact info by entering the serial number of her device. My dad got in touch with her, and she overnighted my machine to our hotel (we did the same)….but I still didn’t get mine for 2 days.

I slept terribly without my machine because I have central apnea which is much worse than the typical “obstructive” sleep apnea….with obstructive, the airway relaxes a little too much and causes snoring. But with central apnea, the brain doesn’t tell you to breathe. So anytime I started dozing off those two nights, I’d wake up, feeling like I was drowning and needing air.

That whole ordeal with the mixed-up sleep devices was so hard to experience, but we’re all just so thankful that I got my ventilator back (it is very expensive!).

Anyways, the one year follow-up appointment with my mito specialist went well.He and the fellow added all my genetic info to the North American Mitochondrial Disease Consortium (NAMDC) and the MSeqDR (another mitochondrial data resource consortium) which is helpful in case they find others similar to me. My mito specialist is a part of NAMDC, and once a month, all the mito experts talk about specific medical cases and offer input to each other. He hopes to bring up my case because he’s never had a patient with both Mitochondrial DNA Depletion Syndrome and Wilson’s Disease. Every time I see him, he tells me that I’m a puzzle and so rare.

I also asked him what the doctors learned at the UMDF 2019 symposium this past June, and he said they’re seeing/learning more and more how mitochondria are involved with inflammation. That was interesting to hear about!

One of the mitochondrial drug trials (called Elamipretide) is in Phase 3 which is the last of the phases before it goes to the FDA approval process. That means it’s doing really well since not many drugs pass phase 1! My doctor said that the patients taking this drug trial feel a lot better. Isn’t that so awesome to hear!? That is, it doesn’t cure them, but they’re not as tired, etc. That news gave me so much hope! It’s a subcutaneous injection, and my mito dr. hopes it gets FDA approved in 2 years! When I tell people that, they’re always like, “That’s so long from now!” But to me, that’s soon! I’ve been seeing my mito doctor for the past 5 years now which means I’ve been waiting that long for some sort of drug treatment. Being on this long journey, I’ve had to learn a lot of patience (and still am!)… I just can’t believe that I may soon get treatment that is something other than supplements!

Next year’s UMDF symposium is in Phoenix, and my mito dr. who’s helping plan it wants me to go! But, we’ll see..

It was so good to see my pain medicine specialist (my favorite doctor in case you don’t know) in Seattle on August 1st. Here’s my yearly picture with him.

He’s seriously the best and so caring! I’ve known him for 8 years now. Regarding the terrible neck pain that I have, my MRI shows that I have a congenital vertebral fusion (another defect I was born with), so I have cervical facet arthropathy from that. He wants my local pain specialist to do a cervical medial branch nerve block, but sadly, she’s booked out until September 19th…and that’s just the office visit to talk about getting it done, not a procedure appointment. He also suggested other pain medications to switch to since I’m getting tolerant to the one I’m on currently.

The hemangioma on the bottom of my foot has been getting even more painful, so I now have to tip-toe on that foot when I walk. I have a 2 hour appointment next week to see the vascular anomalies clinic at Doernbecher’s—the Dermatology, Interventional Radiology, and Plastic Surgery specialists are going to see me all at the same time during that visit.

On top of that, I’ve been experiencing bad dizziness for almost 2 weeks now, and my neuro physical therapist doesn’t think it’s the benign paroxysmal positional vertigo (I’ve had this in the past) which can be easily fixed with the Epley Maneuver. He thinks it’s centrally-mediated vertigo, so I had to tell my neurologist. It’s sadly not resolving yet, and my neurologist said central vertigo can last a long time.

Anyways, that’s what I’ve been up to….lots of traveling, doctor appointments, physical therapy, and lettering cards for Punkpost. Continuing to lean on the Lord because I’m so very weak without Him. He is my rock. And I really really love the Charles Spurgeon quote above that I lettered! So encouraging!

Thank you so much for continuing to pray for me! I’m so grateful and blessed!

P.S. That sure was a long post. In addition to not feeling the greatest (due to vertigo, pain, and other symptoms), this is another reason why it takes me so long to post blog updates…I have to take breaks when working on these posts (I also have to think a while about how to say everything, etc.), so thank you for your patience! Shoutout to those who made it to the end of this!!

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Part 3 ❤️

By Kerissa Lee • 27 Apr, 2024

Read Part 1 and Part 2 if you missed it. | 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. 😔 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. 🥹 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. 🥺 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. | 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. 😔 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.” 🥺 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. 🥺💔 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…