Co-Enzyme Q10 Deficiency
Symptoms: Encephalomyopathy, developmental delays, exercise intolerance, ragged-red fibers, and recurrent myoglobin in the urine
Cause: Probably autosomal recessive
Treatment: Administration of Co-enzyme Q10
Links: https://rarediseases.info.nih.gov/diseases/10423/coenzyme-q10-deficiency
My Mito Story: Living with CoQ10 Deficiency
Meet Julia, a 10-year-old from New York, who, like many of her peers, loves joking, dancing, binge-watching Disney+, and all things animals. “She’s a sweet, humble little girl,” said her mom, Jessica.
When we talked, mom and daughter were headed to see a new movie at the local theater. This – Julia growing up and being able to enjoy her childhood — was not something Jessica was sure she’d see. “When I got the test results, I thought I was going to lose my daughter,” Jessica recalled.
Three years ago, genetic testing revealed Julia was affected by Coenzyme Q10 (CoQ10) deficiency, a rare mitochondrial disease where a patient lacks sufficient CoQ10, a substance that helps the body produce cellular energy. The disease is estimated to impact fewer than 1 in 100,000 people and can cause developmental issues, muscle weakness, seizures, and damage to vital organs.
Signs of potential problems started with mobility issues around age one. “She fell down a lot, was constantly tripping, and couldn’t run,” said Jessica.
Despite her concerns, doctors assured her that she should simply give Julia time.
Time, unfortunately, showed quite the opposite. As a preschooler, Jessica began noticing academic delays. An MRI confirmed ataxia, damage in her brain’s connections, which explained some of the physical and developmental issues, but doctors were unsure why.
As specialist after specialist looked for answers, Julia’s struggles continued.
By age seven, Julia lived with constant tremors. “She couldn’t brush her teeth. I had to dress her. She almost permanently lost her two front teeth from a fall. She had so many scars from accidents,” said Jessica.
At the urging of one of Julia’s therapists, Jessica convinced doctors to conduct another MRI, which showed significantly more damage in Julia’s cerebellum than only a few years earlier. Her neurologist would later order genetic testing, revealing the CoQ10 deficiency diagnosis.
Since there is no FDA-approved treatment, doctors put her on a “mito cocktail” – a mix of vitamins and supplements, including CoQ10 – and a ketogenic diet. For her part, Jessica connected with the United Mitochondrial Disease Foundation, which provided a variety of support programs and resources.
Today, thanks to that intervention along with intensive physical, occupational, and speech therapy, Jessica says Julia’s condition has somewhat stabilized. But issues persist.
“She really struggles with energy levels. Kids don’t want to miss a beat, but she’s easily fatigued by simple things like going up and down stairs,” said Jessica. “And her metabolism is through the roof. Her body burns a ton of energy, to the point where I think she’s becoming hypoglycemic. I have to remind her to listen to her needs, however she’s feeling.”
She hopes in the long run a cure, or even a treatment, will be able to help – if not for Julia, at least for other kids like her down the road.
“Yes, I hope for a cure one day. Right now, we just have to hope she doesn’t regress. Doctors just don’t know,” she said. “I would love it if one day she can run, like other kids. And I hope she doesn’t get sick. Or fall. But above all, I want to document her story, so maybe someday other families can understand what they’re going through.”
Jessica is aiming to channel what she’s learned from Julia’s diagnostic journey to help others like her. She’s currently finishing up a master’s program in public health administration.
“I hope to work in pediatrics, maybe even serving mito patients. I did a paper that made me think about opening a mito clinic in our neighborhood,” she said. “For now, though, my main goal is just to get her story out.”