• Home
  • Health & Wellness
  • Disclaimer
    • Terms of Use
    • Privacy Policy
    • DMCA Notice
Podcast
  • Home
  • Health & Wellness
  • Disclaimer
    • Terms of Use
    • Privacy Policy
    • DMCA Notice
24/7 Health News
No Result
View All Result
Home News

I Was Finally Diagnosed With a Mitochondrial Disease at Age 54 After Having Muscle Spasms and Seizures My Entire Life

October 12, 2021
in News
0

I’ve been sick my entire life, and no one could tell me why. I was 54 years old when I was finally diagnosed with an invisible illness last year.

For years, I had tried to explain what was going on to doctor after doctor. I had these really weird symptoms, so doctors had these really weird responses. They would get mad at me, blame me. I could see them rolling their eyes, hear them sighing. It was all very unprofessional. They would look at me like I was wasting their time. To be fair, they didn’t understand.

I remember once trying to describe muscle spasms or cramps I was having. I was in huge amounts of pain from these spasms all over my body. The doctor told me, “They’re not cramps or spasms. You’re perfectly normal.” I knew this was not normal. But rather than admitting there’s something wrong but we don’t know what it is, the default was to say I was normal.

I hid as much of my disease as I could. I pretended to be normal. The person I was projecting on the outside was very different from me on the inside.

RELATED: Millions of Women are Living With ‘Invisible Illnesses’: Here’s What That Means

Table of Contents

  • A lifetime of symptoms—with little help
  • Piecing together the puzzle
  • Becoming visible
  • Staying healthy with my invisible illness

A lifetime of symptoms—with little help

My mom had mysterious symptoms of her own. She always had problems going to doctors; they couldn’t work out what was wrong with her—or with me. She had taken me to many doctors, but when my symptoms got worse when I was 10, a doctor told her for the first time it was probably all in my head.

Frustrated that neither of us could get a diagnosis, she gave up on taking me to the doctor—they did nothing to help. Test after test after test showed nothing was wrong.

From her own experience, my mom knew some ways to help me, at least a little. For example, years before, she had worked out on her own that to manage her symptoms, she needed to eat sugar basically all the time. She made me eat this way too.

I was always cold; my body couldn’t maintain its temperature. I was always dressed way too warm for what anyone else thought was appropriate, so it seemed like almost on a daily basis people would make derogatory comments or make fun of me for being overdressed.

I was always smart, but I had trouble learning; sometimes words sounded jumbled. Even today, it’s hard to retrieve information I know. Throughout my career, there have been gaps in my progress where I’ve struggled with my health and hardly accomplished anything.

During my postdoctoral work, I got really, really sick. I was so weak I couldn’t exercise—at times I could hardly walk. I had been diagnosed with asthma, but it turned out that my breathing problems were due to muscle spasms. I had also been having seizures and what’s called “metabolic crashes” at home. I had even lost some short-term memory.

One doctor I saw around this time brought a psychiatrist into the room to talk to me without asking me first. I refused to talk to her because I knew this was a physical problem. The doctor made a permanent record in my file that I was a patient with a psychological problem. He made it clear he thought I was wasting his time: He told me no one would believe me, and that if I wanted to pursue treatment for a physical problem, I’d have to go to doctors outside of my university’s system. I was a student and couldn’t afford to do that.

Because I looked normal, and because my symptoms didn’t make sense within the medical framework we knew at the time, my husband of nearly 20 years sided with the doctors. It didn’t matter that I was saying I had these symptoms: the tests weren’t proving anything. He didn’t understand why I couldn’t, say, go out for a hike for hours without eating. He didn’t want to stop for food and rest. He didn’t understand why I was so cold or sometimes couldn’t walk. He thought I was having emotional tantrums or didn’t want to do what he wanted to do. It was just an impossible situation. We got divorced in 2014.

RELATED: 10 Things You Should Never Say to Someone With a Chronic Illness

Piecing together the puzzle

Even though my symptoms made school challenging, I had always been high-functioning enough to figure out workarounds. I would have trouble understanding my teachers, but I’d be able to figure out things like reading or math more easily on my own. I didn’t have good grades, but I continued to pursue a PhD because I was so interested in science, and ultimately landed a job in research. When I first started working at Mayo Clinic in 2015, where I research myocarditis and sex differences in inflammation, I went to see a neurologist who specializes in migraines.

He recognized my symptoms right away as signs of a type of mitochondrial disease, an umbrella term for a group of genetic disorders that affect around 1 in every 5,000 people. One of the common symptoms of mitochondrial diseases is migraine, so my neurologist was familiar with both conditions. He referred me to a geneticist who finally was able to diagnose me with mitochondrial disease after 54 years using a test called a whole exome sequence. He also tested the genome of my mitochondria.

We all have mitochondria in our cells. If a cell is a car, mitochondria are the engine. Sugar provides energy—it’s the gas for the engine. If you have a mutation in your mitochondria, your body may not make or use energy correctly, which can lead to all different kinds of symptoms. For this reason, it can be very difficult to diagnose mitochondrial disease.

I really was having classic symptoms, but it never occurred to me or my doctors then that I had a genetic disease that no one knew about. Now, there are ways to detect what was wrong on a cellular level, but of course this didn't show up on a blood test or CT scan or tests that were available when I was younger.

RELATED: How to Actually Get Your Doctor to Listen to You

Becoming visible

It was incredibly overwhelming to finally get a diagnosis. For so long, I had been afraid to tell people my really weird symptoms because I was afraid they’d think I was crazy. Now I was able to start putting everything in context. Suddenly I had a frame of reference for all these things that had happened to me. Everything started making sense.

But it was traumatic at the same time. I had faced so much rejection and there was so much I had never been able to tell anyone. I always felt alone. That was the very worst thing about living with an invisible illness. But telling people in my life what was really going on made me feel rejected all over again. People responded in many different ways: Some didn’t want to hear about it; others would say unsupportive things like, “Well, you’re not dead,” or “You’re not in a wheelchair, so you’re fine—what’s the big deal?”

People close to me found it hard to hear about, wondering how this could all have been going on with my health and yet I had never told them. Other friends and colleagues were surprisingly compassionate and understanding. I’ve considered contacting my ex-husband now that I have a diagnosis, but I haven’t done that yet because it’s still so emotionally charged.

RELATED: This Might Be Why Your Hands Are Always Cold

Staying healthy with my invisible illness

There is no cure for mitochondrial disease, and treatment options are limited. For many patients, there’s nothing that helps. I appear to be low in a specific enzyme, CoQ10, that I can get in a special supplement for patients with mitochondrial disease. I also take antiviral medications—for so long I had chronic viral infections that I couldn’t get rid of, so that has helped a lot. I was in agonizing pain every day, but I didn’t realize how bad it really was until these treatments started to provide some relief. I’m going to research medications that seem to be helping my muscle spasms and stopping my seizures to see if they could have a benefit for other patients with mitochondrial disease.

As a teenager, I decided to rebel against my mom and eat my own way. But I got really, really sick and went back to eating sugar every few hours. Now I know I feel my best if I eat sugar and fat every few hours. I even set an alarm to wake up during the night to eat. When I was feeling my worst, I ate a lot of chocolate truffles and I was just gaining and gaining weight. With my medications, I have been able to diet for the first time in my life without having a metabolic crash.

There’s some preliminary evidence that getting complex carbs and plenty of fat can help people with mitochondrial disease. I’ve found starchy foods, like potatoes, work better for me than simple sugar, which the body burns too fast, so I keep 150-calorie snack bags of potato chips with me all the time.

Along with my snack supply, I carry a backpack with an emergency letter explaining step-by-step instructions for my medication. And my phone is full of alarms that I depend on to remember the times to eat and take my medicine.

When healthy mitochondria make energy in the body, they also give off heat—I finally understood why I’m always cold. I wear a winter jacket all the time, and I live in Florida. I keep my office very warm, and I have an electric blanket and a heating pad there. I travel with an electric blanket too.

I’m learning how to take more time off to rest and recover. Instead of working late, I go home and sleep. I didn’t do that before because it was my habit to just keep going because I was always behind.

I have to think about my health all the time every day to stay stabilized. I’ve been doing it my entire life, but now I know why. It is tiring, but when I don’t, I have terrible symptoms, so it’s worth it.

Today I have “white coat hypertension”—doctors literally make my blood pressure rise. Every time I visit a new doctor, my blood pressure goes through the roof, but I have great relationships with the doctors I see now. I think I also have what people are just starting to call “medical PTSD,” or post-traumatic stress disorder, after a traumatizing medical experience.

I worked all my life to appear “normal,” but now I can start to discover who I really am. Now that I can explain what’s going on, I can become a new person. I feel like I recognize myself in the mirror for the first time.

If you have a story to share about living with an invisible illness, email us at invisible@health.com

ShareTweetSharePin
Previous Post

Meghan King Edmonds Responds to Concern Over Her 'Too Thin' Appearance: 'I'm a Stress Non-Eater'

Next Post

5 decrease again ache aid workouts

Next Post
lower back pain relief exercises

5 decrease again ache aid workouts

Most Read

What causes stuttering? A speech pathology researcher explains the science and the misconceptions around this speech disorder

What causes stuttering? A speech pathology researcher explains the science and the misconceptions around this speech disorder

December 15, 2022
morning back pain

Morning Again Ache Trigger Is Not the Mattress

October 11, 2021
lower back pain relief exercises

5 decrease again ache aid workouts

October 11, 2021
3 years after legalization, we have shockingly little information about how it changed cannabis use and health harms

3 years after legalization, we have shockingly little information about how it changed cannabis use and health harms

October 15, 2021
bleeding in gum

When The Bleeding in gum Is Severe ?

October 11, 2021
Good Night Sleep

6 Causes of Good Evening Sleep

October 11, 2021
Nasal vaccines promise to stop the COVID-19 virus before it gets to the lungs – an immunologist explains how they work

Nasal vaccines promise to stop the COVID-19 virus before it gets to the lungs – an immunologist explains how they work

December 14, 2022

COVID vaccines: how one can pace up rollout in poorer international locations

October 5, 2021
Ten small changes you can make today to prevent weight gain

Ten small changes you can make today to prevent weight gain

October 12, 2021
Kick up your heels – ballroom dancing offers benefits to the aging brain and could help stave off dementia

Kick up your heels – ballroom dancing offers benefits to the aging brain and could help stave off dementia

January 3, 2023
Greece to make COVID vaccines mandatory for over-60s, but do vaccine mandates work?

Greece to make COVID vaccines mandatory for over-60s, but do vaccine mandates work?

December 1, 2021
Support and collaboration with health-care providers can help people make health decisions

Support and collaboration with health-care providers can help people make health decisions

December 16, 2021

Multiple sclerosis: the link with earlier infection just got stronger – new study

October 12, 2021
The promise of repairing bones and tendons with human-made materials

The promise of repairing bones and tendons with human-made materials

January 4, 2022
As viral infections skyrocket, masks are still a tried-and-true way to help keep yourself and others safe

As viral infections skyrocket, masks are still a tried-and-true way to help keep yourself and others safe

December 14, 2022
News of war can impact your mental health — here’s how to cope

Binge-eating disorder is more common than many realise, yet it’s rarely discussed – here’s what you need to know

December 2, 2022
GPs don’t give useful weight-loss advice – new study

GPs don’t give useful weight-loss advice – new study

December 16, 2022
Four ways to avoid gaining weight over the festive period – but also why you shouldn’t fret about it too much

Four ways to avoid gaining weight over the festive period – but also why you shouldn’t fret about it too much

December 22, 2022
Heart disease risk from saturated fats may depend on what foods they come from – new research

Heart disease risk from saturated fats may depend on what foods they come from – new research

November 29, 2021
How hot is too hot for the human body? Our lab found heat + humidity gets dangerous faster than many people realize

How hot is too hot for the human body? Our lab found heat + humidity gets dangerous faster than many people realize

July 6, 2022
Five ways to avoid pain and injury when starting a new exercise regime

Five ways to avoid pain and injury when starting a new exercise regime

December 30, 2022
How regulatory agencies, not the courts, are imposing COVID-19 vaccine mandates

How regulatory agencies, not the courts, are imposing COVID-19 vaccine mandates

October 24, 2021
Nurses’ attitudes toward COVID-19 vaccination for their children are highly influenced by partisanship, a new study finds

Nurses’ attitudes toward COVID-19 vaccination for their children are highly influenced by partisanship, a new study finds

December 2, 2022
Late night eating may cause greater weight gain – new research points to why

Late night eating may cause greater weight gain – new research points to why

October 12, 2022
How the relationships we have with plants contribute to human health in many ways

How the relationships we have with plants contribute to human health in many ways

October 29, 2021

10 Things I Learned During My Body Transformation

October 12, 2021
Chronic pain: An invisible disease whose sufferers are unfairly stigmatized

Chronic pain: An invisible disease whose sufferers are unfairly stigmatized

December 22, 2022
Better sleep for kids starts with better sleep for parents – especially after holiday disruptions to routines

Better sleep for kids starts with better sleep for parents – especially after holiday disruptions to routines

December 27, 2022
Too hot to handle: Climate considerations for youth sport during the hottest years on record

Too hot to handle: Climate considerations for youth sport during the hottest years on record

July 19, 2022
How to keep your pets safe in a heatwave

How to keep your pets safe in a heatwave

July 15, 2022
  • Home
  • Health & Wellness
  • Disclaimer

© 2020 DAILY HEALTH NEWS

  • Home
  • Health & Wellness
  • Disclaimer
    • Terms of Use
    • Privacy Policy
    • DMCA Notice

© 2020 DAILY HEALTH NEWS