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Rare Disease Day: Spotlight on Mitochondrial Disease
Living with Mitochondrial disease is like your car running out of gas every day. You constantly have to refill the tank in order for it to drive. Mito drains my energy…taking a shower, doing dishes and folding laundry becomes exhausting tasks. One of my favorite things to do is go shopping but even that is not enjoyable anymore. After 30 minutes of walking, I feel like I could lie down and take a nap right there in the store.
I remember the day that I received the news that I tested positive for Mito. Two of my neurologists called within a half hour of each other. After eight months of blood work, MRI’s, an EMG, nerve conduction tests, muscle biopsy..after seeing three neurologists, two ophthalmologist’s, geneticist, cardiologist, audiologist. After complaining about muscle weakness, fatigue, hearing loss, headaches, droopy eyelid…it was finally over. This was my diagnosis: I had mitochondrial disease. I did my research and thought I will not survive this. So many people with this disease are in wheelchairs, tube fed, have pacemakers…I did not want to end up like that. I thought about my kids. This disease is maternally inherited, it was passed down to me from my mother and I, too, have passed it down. It made me angry to think that I had passed this horrible disease down to my innocent children. They did not deserve this. Then I thought about Michael. My sweet boy..he was diagnosed with cerebral palsy at the age of three. I knew cerebral palsy was just a blanket term for those who did not have a definitive diagnosis. But here it was..staring me in the face. Michael had Mito. His symptoms were nothing like mine. Michael was non-verbal, global developmental delay, ataxia, spasticity, high and low muscle tone, microcephaly, cerebral heterotopia and so many other symptoms. Our lives were forever changed.
This is mitochondrial disease. The mitochondria in your body are responsible for 90% of the energy your body needs to sustain life and support growth. When these cells fail, less energy is generated. Mitochondrial disease affects the muscles in your body such as your heart, brain, kidneys, skeletal muscle and many more. It’s known as a rare genetic disease. But it’s not really…Mitochondrial disease is rare because it is so often misdiagnosed or under-diagnosed. It is not something that you can just diagnose through a blood test and many go 20 years before getting a diagnosis. There are over 400 different symptoms of Mito and it is difficult to differentiate whether it is a stand-alone illness or if it is a symptom of Mito. Doctors can diagnose people with Mito by reviewing their medical history and their family’s medical history. They run many different tests: blood tests, MRI’s, echocardiogram, genetic testing and many others depending on your symptoms. This disease kills babies before they are old enough to give parents their first smile. It cuts life short for so many living with this incurable and untreatable disease. It is also associated with many other diseases such as Parkinson’s, diabetes and multiple sclerosis. Mitochondrial dysfunction seems to also affect children with Autism, cognitive impairment, deafness and blindness, and obesity.
The fact is that the word needs to get out. Mitochondrial disease is real and it’s taking the lives of so many. Let’s shed some light on this disease…
-Nicole C.
7 comments on “Rare Disease Day: Spotlight on Mitochondrial Disease”
Comments, discussion and insight always welcome!
Military Special Needs Network 
What a well written piece Nicole. Thank you for raising awareness in this way. We are a UK mitochondrial Disease charity and I have shared this on our fb page http://www.facebook.com/lilyfoundationuk
Thank you so much for reading and sharing!
All three of my children have mito one is now in a Leonard Cheshire home as she has lost the use of her legs,the other two have to use wheelchairs when they go out.None of them were diagnosed until my youngest was 22, my grandchildren will have to be tested their partners will have to be tested and so on it goes. I live with the guilt of passing this disease on, though I keep being told I shouldn’t feel guilty I did not know I was a carrier, it still eats away when I watch their daily suffering.
Oh, Sue –
Please do not feel guilty. Please do not.I wish I could wrap you in a big hug. We don’t know what we don’t know, and, even if you did – hindsight is always 20-20.
Peace and love to you and yours.
Kelly
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got the bravery to go ahead and give you a shout out from Kingwood Texas!
Just wanted to tell you keep up the good job!
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