Diagnosing Mitochondrial Diseases in Children
When you learn your child may have a mitochondrial disease, chances are you may never have heard of mitochondria or these conditions.
But the news still probably made you catch your breath and left you with a lot of questions. What is it? How did it start? What does their future look like?
Types of mitochondrial diseases in children
Mitochondrial diseases in children are genetic conditions. They start from gene changes (mutations) that can be passed down through families (inherited). Or they can happen sporadically, without any family history of the condition.
Mitochondria are tiny rods in every cell. They make up 90% of the energy your child’s body needs to work and grow. They do this by using oxygen to turn the food your child eats into fuel to keep their bodies running.
Mitochondrial diseases start when the mitochondria stop working. This can affect different areas of your child’s body like their eyes, brain, heart, stomach, muscles and more. There are different types of mitochondrial diseases, and some are more serious than others. A few are:
- Leber hereditary optic neuropathy (LHON) affects the eyes. It causes eyesight loss that starts with painless blurred vision.
- Leigh syndrome (Leigh’s disease) affects the central nervous system. It causes developmental delays, seizures, and heart and breathing problems.
- Alpers disease affects the brain, liver and muscles. It leads to liver failure, seizures and dementia.
- Kearns-Sayre syndrome (KSS) causes problems with muscles and nerves (neuromuscular system) in areas of the body like the eyes and heart. It can also cause changes in your child’s ability to think and reason — along with other neurological problems.
These and other types of mitochondrial disease have symptoms that can be incorrectly diagnosed as other things. These symptoms can be present at birth but can also happen at any age. And they can vary from person to person. They might progress slowly. Or they may flare up and get worse quickly and drastically.
What to expect at your first visit
It’s OK to feel nervous when you come to your first appointment with Cleveland Clinic Children’s. After all, your child is facing a serious diagnosis. And it’s normal to worry. Our providers understand this. That’s why they take the time to get to know your child (and you) from the moment they walk into the exam room.
As your child’s provider talks with you and them, you can expect to answer a lot of questions, like:
- What kind of symptoms does your child have?
- How long has your child had these symptoms?
- How are these symptoms affecting your child’s life?
- Has your child been diagnosed with any other health conditions?
- What’s your family’s health history?
Your child’s provider will give them physical and neurological exams. And they’ll order some tests to help them confirm a diagnosis and rule out other conditions.
Testing for mitochondrial diseases in children
Your child will have bloodwork, including DNA (genetic) testing. And we may have them do urine tests (urinalysis). They may also possibly have a spinal tap (lumbar puncture). This helps us see what’s going on in the fluid around their brain and spinal cord (cerebrospinal fluid).
To see how symptoms are affecting your child’s brain, eyes, heart and ears we may do:
- MRI (magnetic resonance imaging) or MRS (magnetic resonance spectroscopy) to look for changes in their brain
- Electroencephalogram (EEG) for seizures and related brain problems
- Retinal imaging to check for vision problems
- Electroretinogram (ERG) to see how their eyes respond to light
- Hearing tests to check for ear problems
We’ll also do tests to check how well your child’s heart is working. They may have an electrocardiogram (EKG) or an echocardiogram (Echo). Or both. Our team may also do advanced biochemical testing. This means we’ll look for changes in chemicals that help mitochondria make energy.
Meet Our Team for Mitochondrial Disease in Children
Mitochondrial diseases affect so many different parts of the body that your child may have a care team of providers from many specialties, like:
We build this team based on your child’s needs — and how mitochondrial disease affects them. This team works together to create and follow a highly personalized treatment plan
0 Providers Who Treat Mitochondrial Diseases in Children
Locations
Our healthcare providers see patients at convenient locations in Northeast Ohio.
Treating Mitochondrial Disease in Children
No single treatment covers all mitochondrial diseases in children. Your child’s care plan considers the type they have along with their symptoms and overall health. We’re here to help them manage their condition and prevent serious complications.
Your child may need to take prescription medications to reduce symptoms like seizures. They may need hearing aids or benefit from speech, physical or occupational therapy. We may recommend they take vitamins or supplements and eat a healthier diet. It’s important to understand that treatments that work for one person may not be the best for your child.
Your child will have regular checkups with our pediatric team. This lets us keep an eye on their health and look for signs of complications, so we can manage symptoms and problems quickly.
Taking the Next Step
Mitochondrial diseases in children are serious. Finding out your child has one can leave you worrying about what’s next and what their future looks like. At Cleveland Clinic Children’s, we make sure you don’t have to face the unknown alone. We’re here to answer your questions, listen to your concerns and walk you through every step of your child’s ongoing care. And if things ever seem too heavy to manage, we’re here to lift you up. Our team supports you, your child and your family at every twist and turn.
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