My Husband Has MELAS. Here's My Side of the Story: Mitochondrial Disease Awareness Week 2021

This week is Mitochondrial Disease Awareness Week so I’ll be sharing my story as the wife of a #mitowarrior. P.S. Trigger warning for those grieving the loss of someone.

For content, Jake and I were married in May 2019 and the following months were complete bliss. We traveled together. We went on date nights and wine tours and just enjoyed being married. We started planning our future – you know, the white picket fence, kids, dog, house, car type thing. We were happy. We were married. We were safe. At least for the first five months…

Broken. Shattered. Helpless.

That’s how I felt October 2019 when my husband of five months went into the hospital for two weeks. I was woken up in the middle of the night on October 1 by Jake having a seizure. I can’t even describe that level of terror. In what I hoped would be a fluke seizure + one day in the hospital turned into my absolute worst nightmare.

Let me paint a more accurate picture: I was in PJs, no glasses or contacts so I couldn’t see clearly, didn’t brush my teeth, didn’t brush my hair. I had just enough sense and time before the ambulance arrived to throw on a sweatshirt, grab phones/wallets/keys, and a phone charger. I was freezing, starving, and panicked as we waited in the ER room. Jake was taken back for an MRI, completely out of it and confused as to where he was or what was going on. His mom arrived, just as panicked as I was and convinced me to eat something while he was in his MRI.

We got back to the room and after more hours of testing and waiting, we were informed Jake had brain swelling. That alone is terrifying. What’s even worse is remembering the night before Jake complaining of a headache and me brushing it off as a normal headache and thinking he was being a baby. I was terrified, guilty, and upset with myself.

The next few days are an absolute blur. Luckily the hospital was only a 10-minute walk from our apartment so I was able to run home to brush my teeth and grab a few things. I stayed at the hospital every day. We bought groceries and basically moved into the hospital room. Jake’s dad flew in from Phoenix. I mention this because trying to keep a straight face for my parents-in-law while my entire world was shattering was the most difficult. Jake has no memory of this part of the hospital stay. While he was awake, you could tell he wasn’t there. He couldn’t hold a conversation, and would want to sleep after 30 minutes. The first week I didn’t work. The next week I did. I slept in a chair for two weeks straight. I learned the nurses who were good at coming in for middle-of-the-night rounds without waking him, and learned who would give extra ice cubes with water.

Back to the medical – like I said, the first few days are a blur. I barely remember them. There were so many theories thrown at us. Finally, an infectious disease specialist concluded Jake had Herpes Meningoencephalitis (spoiler alert, this is the wrong diagnosis). P.S. Not the kind of herpes you’re thinking of. This virus is deeply concerning and as the doctor explained this to me while Jake was asleep I clutched his hand with tears streaming down my face. Then the doctor said the one thing that has never left my brain “We think at best he has a 15% chance of surviving.”

I pray no one reading this ever has to hear that. I completely broke into sobs and will forever be grateful for my mother-in-law stepping in, telling the doctor off and sending him away. I couldn’t speak. I couldn’t breathe. I ran out of the hospital, called my mom, and curled into the fetal position out in the main lawn of the hospital. Everything was spinning. I didn’t care what I looked like. I was completely broken. Completely shattered. Completely helpless. I called my mom asking her what to do. I asked her how to plan a funeral. I asked her what I was supposed to do as a 23-year-old widow. It wasn’t that I wanted to believe in it. I wasn’t that I was ready to actually believe it. But hearing your husband has a 15% chance of survival is the most devastating thing I’ve ever experienced. I want to write that I was a fighter. That I loved Jake so much I refused to give up. But in that moment, I didn’t know how to continue fighting. Love shattered me.

I don’t even remember how I got up from the grass. How I got back into the hospital. Again, the next few days are a blur. I do remember another doctor mentioning MELAS, a rare disease she only saw once in kids in London. I remember agreeing to send his blood work to Mayo Clinic for testing of MELAS. At the same time, Jake was still chained to the IV undergoing treatment for what the doctor thought he had.

Two weeks later we were finally free from the hospital. Jake had healed but we still faced many challenges ahead. For one, Jake had to continue healing at home. He now had a slew of therapies, doctor follow ups, and worst of all regulations for what he could or couldn’t do. P.S. if you have a seizure, you’re on a mandatory 6-month suspension from driving. For another, we both were undergoing what our therapists classify as PTSD. I can’t speak for Jake, but I struggled to eat. I didn’t sleep for months. I was constantly on-edge, exhausted, and anxious. It manifested in weird ways too. I was anxious about walking on the street. I was anxious riding elevators. Anything that reminded me of the possibility of death made me anxious, which meant everything did.

Slowly we started to heal. We had the best holiday season. We enjoyed our time together. We thought that was a crazy two-week fever dream. Then January 2020 happened.

January 2020 we received the news that Jake’s MELAS test came back positive. Jake had MELAS: Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes. You can Google the scientific meaning of this, but in layman’s terms this means about 50% of Jake’s mitochondria do not work properly. You may remember from high school that the mitochondria is the powerhouse of the cell. I never knew how true that was until I learned what happens when you don’t have mitochondria. Because of MELAS, Jake is not only susceptible to strokes and seizures, but he is hard of hearing, has diabetes, loses energy faster than others, is colder than others, and more. Oh, and there’s no cure or formal treatment. Most of what Jake takes is vitamins. Jake takes 28 pills a day, including 18 L-Arginine (you should’ve seen the poor girl’s face at GNC when she said the average dosage was 1 pill per day and Jake said he took 18!).

Navigating this diagnosis has been tricky. Most people with MELAS are diagnosed as children. Jake was 27 when he was diagnosed. This means many of the specialists will not see Jake as they are pediatric doctors. We were blessed with a doctor in Chicago who understood MELAS, but since moving, we haven’t had luck finding anyone here. Doctors have rarely heard of this disease and often incorrectly treat it. I have to carry around a sheet in my wallet because normal treatments could severely harm Jake, should anything happen again.

Needless to say, it was a wave of devastation and grief all over again. The nightmare of October wasn’t ending. Worst of all, Jake experienced two stroke-like episodes in January and February. We were at a new hospital with a doctor who understood MELAS so they were shorter trips and more comfortable (I got a cot instead of a chair!!), but it was still heartbreaking. Seeing your husband with wires all over is heartbreaking. Not being able to hold your biggest source of comfort when you desperately need comforting is unlike any other experience I’ve ever gone through.

Thankfully, since February 2020, Jake has not experienced any more strokes/seizures and we’ve been out of the hospital since then. But something I still struggle with is the grief that our life will never be the same again.

You normally think of grief as the loss of something tangible. But the weirdest and most isolating is the grief of the intangible. After Jake’s diagnosis I deeply struggled. I was grieving but felt I couldn’t because Jake didn’t die (thankfully). But I lost the security marriage normally grants - security of building a life together long term. I lost the peace of sleeping. I lost wine trips to Napa. I lost the feeling of being invincible together. I lost the feeling of complete newlywed bliss. I lost the romantic notion of marriage + traded it in for the scary realities you hopefully don’t face until old age. I was grieving the life we had/I thought we would have. It’s a unique situation to go through + as a younger wife, I didn’t have anyone who I could really talk to. Not to say I didn’t have support but I knew no one fully understood what I was going through. Not only that but Jake and I were both processing our own grief + didn’t talk about it frequently with each other. We couldn’t be there for each other how we both wanted/needed. All I can truly say is thank god for therapy. It’s the only way I was able to heal.

As mentioned, I’m beyond grateful Jake is still with me and we haven’t been back in the hospital. And more than that, I’m beyond amazed at how he’s taken this diagnosis in stride. When doctors suggested he not work, he defied odds, changed his career, was accepted into ASU Mary Fulton College of Education Master’s Program, and became a 5th grade teacher. He dedicated himself to participating in studies and raising money to find a cure. He has been his own biggest champion. I’m so proud of him and so honored to be by his side. I’m also so grateful for the support our family and friends have given us the past few years. From my mom listening to me cry, to my mother-in-law being there every step of the way and helping be Jake’s advocate when I couldn’t speak, to my father and father-in-law for checking in on Jake and being a lending ear, to my friend Sally who brought me chipotle and chocolate during the hospital stays, to our friends Abigail, Connor, and Suman who visited Jake in the hospital. To Jake’s friend Luke for talking to him like normal and keeping his mind off things. For all the doctors, nurses, therapists, etc. who cared for us. We wouldn’t have gotten through this journey without our support system.

This was painful to write. Thank you for getting through it and for supporting us. Nothing I write is for sympathy. It is for you to know the truth of how diagnosis effect an entire family. It’s to motivate the medical community to care more about this disease, to educate themselves and fight for a cure.

Most importantly this is for Jake so he knows how much I love him. So, he knows how proud of him I am. Always and forever.