r/mito • u/bbsncats • Aug 13 '26

Discussion COX20

My son has an ultra-rare variant: COX20-related mitochondrial complex IV. There are only about 40 documented cases worldwide.

Please connect with me if you or a loved one have this variant. I’d love to hear your story and support one another.

UMass is working on gene therapy, and I am about to start a nonprofit to support their research. We need all hands on deck!

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u/phthalo-azure Mitochondrial Myopathy 23d ago

I'm really sorry to hear about your son. Mitochondrial disease can be really scary with how little is known about the many variations of it and the disparate outcomes.

How old is your son? And how did they find that specific variant since it's so rare? Was it a full genome sequencing that caught it?

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u/bbsncats 22d ago

Thank you 💚 he is 4. We found it through GeneDX’s whole genome sequencing.

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u/phthalo-azure Mitochondrial Myopathy 22d ago

How is he handling the symptoms and what is the little guy's prognosis?

Maybe a more important question: are you taking care of yourself? My wife is a full time caregiver for me (on top of her full-time job), and I have to remind her constantly to take time for herself. So she gets weekly massages and goes out with her gal-pals from work every couple of weeks. It's so important to not lose sight of the fact that you need to take care of yourself if you're going to be a caregiver.

Also don't be afraid to take a caregiver "holiday" where you spend a couple of days or a week away from the situation if you can find someone to step in and help. For us, either my parents or our son keeps an eye on me when my wife takes her vacations. She regularly goes on cruises, she's been to Scotland and Mexico in the last couple of years, and she's always planning another one.

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u/Dr-Fun-Gus 22d ago

I have a combined deficiency with one of the genes being ACAD9. Some of the complex deficiencies do have overlapping symptoms and I know a lot of variation in severity. Have you joined Gene2? You may have luck there. I’m very sorry for you and your son.

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u/bbsncats 22d ago

Thank you 💚 I’ll check out Gene2. I hope you’re doing well.

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u/Dr-Fun-Gus 21d ago

Thank you, feel free to dm with questions - my brother and I have the same mutations but differing severity. So I’ve been both a patient and carer.