My Experience as a Mom of a Child With Mitochondrial Disease and One With CHD


I am a mito mom and I am a heart mom. In many ways, being a mito mom prepared me well for being a heart mom; I knew how to speak “medicalese,” interact with doctors, survive a hospital stay, navigate scheduling, track ins and outs, stay on top of a med schedule, how to live one day at a time so fear does not consume you — so many things! What surprised me was how different each experience was, because the world understands heart defects and they do not understand mitochondrial diseases.

(Note: If you are a heart mama reading this, I am not saying the gig is easy. It is not.)

It took us years of actively trying to even get to a tentative diagnosis for K, yet it took us one testing appointment to get answers for J. We are lucky to be at the #2 hospital for pediatric cardiology, but pretty much anyone at any hospital would have been able to interpret her echo result and know that she needs open-heart surgery, because there are accurate diagnostic tests for congenital heart defects (CHD). I didn’t have to research her symptoms for years and visit a ton of different doctors to find one who was knowledgeable about her disease and could look at her clinical picture and put it together. There is not a single test that is always diagnostic for mito. Not one.

Every major children’s hospital has a specialized pediatric cardiology program and they spend time and money on research and development. Yet, there are only a handful of programs in the entire nation able to handle mitochondrial diseases.

With CHD, nobody ever said to me, “Kyla, do you think you are just looking for issues? Maybe she’ll outgrow it.” As soon as we told people that J had a hole in her heart, there was an amazing groundswell of support. Everyone just got it. They showed up, they helped financially, they named teams after her — it just happened. Because people understood, from the moment we knew something was wrong, what that meant for J and for our family. It was breathtaking! They didn’t suggest her hole would just heal itself because people know enough about CHD to know that these kids need surgery. They likely know someone who has been through it and they know how hard it can be. With mito, I have spent years holding up our life and saying, “This is what mito is! These are the challenges we face daily!” and it is still so hard for people to understand.

With CHD, there are celebrities who talk about it on their late night shows. There are fairly accurate portrayals of it on TV dramas. With mito, it is conflated with Munchhausen’s, called a wastebasket diagnosis, or not discussed at all.

Everyone knows what happens when your heart doesn’t function properly, but very few people know what it means when your mitochondria don’t function properly.

With CHD, there is quite often a repair (or multiple repairs) that can be done to restore function. Some heart defects are incredibly complicated and repairs can take multiple surgeries or simply be beyond what can be repaired. But for a high percentage of cases, there is a way to treat the condition fairly successfully. There are well-developed treatment plans. We had a detailed treatment plan within 24 hours of J’s diagnosis. With mito, there is nothing aside from supportive measures and vitamin supplements. There is only treatment of symptoms as they arise, trying to buy time and prevent organ damage.

We have been so blessed to have a community of support that has learned about mitochondrial disease alongside us, who support us and cheer K on. But one day, I’d like to live in a world where people understand mitochondrial disease the way they understand congenital heart defects. Yes, the rates of CHD (1 in 100) are higher than that rates of mitochondrial disease (1 in 4000), but the rates of mitochondrial diseases are the same as cystic fibrosis (CF) and CF is way more visible and understood. Pediatric cancers have even higher visibility even though they have an even lower incidence than mito and CF (1 in 6500). I also desperately want a cure! But until people understand the disease and what it entails, it is never going to get the kind of research support that CHD and CF and pediatric cancer have. So help me. Share this post. Read the facts below. If you know someone who lives with mito, find ways to lift them up. It is a marathon, not a sprint, and some of the miles are really, really hard.

Mito facts from MitoAction:

  • Mitochondrial disease is a chronic, progressive disorder that occurs when the mitochondria of the cell cannot produce enough energy for cell or organ function.
  • Mitochondrial disease is defined as the result of either inherited or spontaneous mutations in mtDNA or nDNA, which lead to altered function of the proteins or RNA molecules that normally reside in mitochondria.
  • Mitochondrial disease can be inherited from a person’s mother (mtDNA), from both parents (nDNA), can occur spontaneously, or may result from exposure to toxins, medications or other environmental triggers.
  • There are about 40 mutations in the mtDNA and 300 mutations in the nDNA that have been identified and linked to mitochondrial disease. However, it is likely there are many more that have yet to be discovered.
  • Estimates suggest that 1 in 4,000 people will face a diagnosis of mitochondrial disease.
  • Adults get mitochondrial disease, too, although for many years Mito was thought to be a “childhood” disorder. Some adults may have had “soft signs” of Mito their entire lives, while others may experience a sudden onset. Sometimes adult patients can identify an event that seemed to trigger the onset of their symptoms, such as a major illness, surgery or pregnancy.
  • Mitochondrial disease symptoms differ from person to person and can first appear in infants, children, teens or adults. Common symptoms include poor growth, loss of muscle coordination, muscle weakness and pain, seizures, vision and/or hearing loss, gastrointestinal issues, learning disabilities and heart, liver or kidney failure.
  • Mitochondrial disease symptoms affect many different organ systems. The neurologic, digestive, musculoskeletal and cardiovascular systems are most commonly affected.
  • Mitochondrial disease is related to autism, diabetes, Alzheimer’s, and Parkinson’s.
  • A common misunderstanding is that these disorders are a singular disease, rather than a category. Patients can suffer from a variety of disorders, and still be considered to have a mitochondrial disease. A challenge facing those affected by Mito is the fact that multiple people in a family can have Mito, and may not know it, due to the difficulties associated with diagnosis. Lack of awareness and understanding of Mito may lead to misdiagnosis of symptoms.
  • The combination of supplements, antioxidants, vitamins and co-factors that improve mitochondrial function are called the “Mito Cocktail.” Exercise, nutrition, hydration and energy conservation are as important as the cocktail in the overall management of mitochondrial disease.

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