In honor of Mitochondrial Disease Awareness Week, I thought I’d start off with a post about what exactly IS mitochondrial disease (“mito”)? And truthfully – it’s a question that some of the best and brightest minds in the medical world have a hard time answering.
At the base of the science behind mito is this explanation from the United Mitochondrial Disease Foundation website:
Mitochondrial diseases result from failures of the mitochondria, specialized compartments present in every cell of the body except red blood cells. Mitochondria are responsible for creating more than 90% of the energy needed by the body to sustain life and support growth. When they fail, less and less energy is generated within the cell. Cell injury and even cell death follow. If this process is repeated throughout the body, whole systems begin to fail, and the life of the person in whom this is happening is severely compromised. The disease primarily affects children, but adult onset is becoming more and more common.
Diseases of the mitochondria appear to cause the most damage to cells of the brain, heart, liver, skeletal muscles, kidney and the endocrine and respiratory systems.
And they have this cute drawing to explain it:
Got it now?
Neither do I!
As we have been on this journey to figure out a diagnosis for Kendall for almost 3 years now, I have made it somewhat my mission in life to UNDERSTAND more of what “mito disease” is and means. Because quite often not even our doctors can understand or explain it to us. So here is my somewhat more simplified (and perhaps not quite so scientific) version of what exactly mito is and does.
Essentially, every cell in your body has a little engine called a “mitochondria”. The cells know what they are supposed to do because the mitochondria help map/direct the cells – so the liver cells know to be a liver, your eyes know how to be eyes, your gut knows how to digest food, etc. (again – very simple, not scientific – stay with me!) Those mitochondria help make the ENERGY for those cells to do their job, by taking the byproducts of the food you eat, and the oxygen you breathe, go through a super complex metabolic process, something about the Krebs cycle, and bam – they create a little packet of energy, the cell does its job, and you live your life.
BUT – if you have a mitochondrial disease, something is wrong with the directions that that mitochondria is giving out. Maybe it has the wrong info encoded into it because of a genetic defect, or maybe it is just super inefficient at its job of creating energy packets. But basically, that fun little cycle of metabolism is messed up, and not enough energy packets are made. No bueno.
You know how when you are getting sick, or ARE sick, or are getting over being sick – and you just feel kind of “blah”? It’s probably a big combo of things (maybe you puked nonstop, or just couldn’t breathe real well, or some other unpleasant combo) – but the point is – your body is diverting a TON of energy to your immune system to help you GET BETTER from that sickness, so you may not have the energy you typically do to go running or exercising, or even get off the couch and make dinner. Your mitochondria in all those areas are probably still all working, but their energy packets are being “borrowed” by your immune system so it can activate your T-cells and WBC’s etc etc etc.
In a person with mito, that “blah” feeling is kind of “as good as it gets”. Their bodies are in a constant state of needing to “borrow” energy packets because they just can’t make enough energy to go around. This is part of why there can be such a wide variation of symptoms and severity among mito patients – because some people are able to create more energy to go around, and others are just never going to be able to get on top of their energy stores.
I tell most people who we are first meeting and describing kendall’s issues to to think of it like this:
Imagine that you have to pay $5000 in bills every month (i know – i can only think in round numbers, go with it). But – in spite of working 3 jobs and pinching every penny you can, you can only come up with about $3500. You have a choice – you can either shuffle a lot of bills, and pay everyone a little bit, enough to keep the collectors at bay but never enough to actually PAY your bills, or you can choose to only pay certain important ones. Now say you get sick – you can only work maybe ONE job, and your income is only enough to cover the mortgage that month. Everyone else suffers, but the mortgage is paid. Eventually all those late and overdue bills are going to catch up with you though, unless you can figure out some huge way to pay them all off.
this is how Kendall’s body is affected by mito.
Every day, she is only able to produce a certain amount of energy. Prior to being able to get on top of some of her biggest issues (respiratory, metabolic, and GI – tummy), she was in a constant state of robbing Peter to pay Paul, and even Peter was going bankrupt real fast. Her body is not able to produce enough energy to sustain ALL of the demands her body has. She does not appear to be able to utilize oxygen and food in an appropriate manner to complete the metabolic cycle necessary to produce an efficient “energy packet”. This seems to affect her in just about every system – and we will get more into HOW it affects Kendall this week, but for now, that’s the basic summary of WHAT mito means.
It is a disease of energy metabolism.
So little is known about HOW this disease occurs. Scientists and doctors only began to identify mito as a unified disease process (vs just a bunch of “really bad luck” hitting some kids multiple times over) in the late 80’s-early ‘90’s. Progress on the research and understanding of mito has been painstakingly slow as due to the breakdown of mitochondria, other diseases can be more “fitting” than this little known and little understood disease process. There is now much talk of connecting diseases like Parkinsons, Alzheimers, Autism and many many many cases of SIDS to an underlying mitochondrial disorder. There are only a handful of doctors around our country who are able to properly diagnose and “assess” mitochondrial diseases in many kids, and their labs are sadly underfunded, and these doctors are terribly overworked. Of the nearly 3000 genes responsible for mitochondrial function, scientists have thus far been able to identify (breakdown and understand and “map out”) roughly 300 of them. Those 300 genes have been linked to about 20 of what we call the “named” mitochondrial disorders – they are initials aimed at naming the prominent symptoms of that disease – MERRF, MELAS, MNGIE, NARP, KSS, and a handful of others. Sadly in med school, most doctors have one class that quickly goes over ALL of those diseases, and again, its mostly only the named ones. THOSE diseases are quite rare in the general population – but unfortunately mitochondrial disease as a whole is NOT rare. It is believed that just as many children are born every year with mito as are born with cystic fibrosis. Mito disease affects just as many kids in varying degrees as pediatric cancers.
And yet it is so unheard of, so unknown how to treat it…
There are so many amazing families out there living with mitochondrial disease, families like us who are having to forge our way ahead in this crazy world, educate doctors out of our own home-grown knowledge, trying to find that balance between doing anything and everything to try to MAKE THIS BETTER for our kids and letting them just be kids in their own ways. I hope that over this week you will enjoy hearing some other stories, learning more about what mito IS and what it looks like, and mostly that you will walk away being able to share with someone else that mito is real, and it needs some REAL attention by people who can help us DO something to cure this horrible disease!
As always – if you have any questions about mito or about anything I may write this week – PLEASE feel free to email me! email@example.com
Thanks so much for stopping by, for reading, for being interested in learning more about mitochondrial disease. Your interest is part of the cure. Your desire to understand how mito affects Kendall’s life, and our lives, gives it a validity and a meaning that some days is hard to figure out. I cannot thank you all enough~ from the bottom of my heart!
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