WARNING: the foods we cook for Abby are safe for her, but not necessarily for everyone. Please confirm any ingredients are safe for you before using in your diet. Food Allergies can kill and the best policy is complete avoidance. Read this post for more info.

Thursday, August 3, 2017

Mitochondrial Depletion Syndromes- they aren't all the same.

Because of Charlie Gard, there has been a ton of media coverage for Mitochondrial Depletion Syndrome Patients.

However, I keep reading that they are "terminal".

Not all depletions are the same.

There are a few "known" mutations that usually have a grim prognosis. There are some Depletions that based on which body systems they have damaged and other clinical findings are generally a grim prognosis even without a genetic mutation.

There are just as many with Mitochondrial Depletion Syndromes who aren't terminal though they are deemed progressive. (Like Abby and others many are a slower progression).

To read more about the many different types and presentations of Mitochondrial Depletions visit OMIM:

There are some patients who develop Mitochondrial Depletion Syndromes from prescribed medications- generally not terminal though progressive. (considered secondary Mitochondrial depletion Syndromes and there are other causes of secondary Mitochondrial disease beyond medications)

There is sadly not much known about Mitochondrial Depletion Syndromes.

A few years back I read some research that suggested approximately 11 percent of all patients diagnosed with Mitochondrial Disease have a Mitochondrial Depletion Syndrome(though I haven't cross checked that figure and it was in an article pre-WES testing).

Abby has been symptomatic since the womb. She had some rough years as an infant and toddler, and then again at puberty. We lost a baby before Abby that based on autopsy I suspect had a Depletion and our oldest was very pre-term with a growing list of suspicious symptoms. Yet, she started college at 14(as did our oldest) and at 22 while limited and home bound she walks(she does use a chair when she goes out to conserve energy and prevent fatigue which triggers progression for her), doesn't need a feeding tube or any other significant interventions.

So, please do not assume all babies with Mitochondrial Depletions are terminal or need extreme medical interventions.

Another reminder, genetic testing is only identifying approximately 30 percent of patients. That means the majority of Mito Patients do not have a known genetic mutation. Many health insurers refuse to cover the cost of genetic testing which is slowing the available data for researchers to study to help identify other mutations.

Without a known gene mutation it is highly unlikely a Mitochondrial disease patient will be eligible for future breakthrough treatments. Clinical trials are being created around specific genetic mutations. That leaves 70 percent of Mito Patients waiting much longer.

There are patients with Mito who took years and and years to be diagnosed. There are patients today who will wait years to be diagnosed, let alone start any type of preventative treatment. Things have improved but the overall misconception by Drs. that this is a "rare" disease is wrong. That this is a "terminal disease of infancy" is WRONG. It is an incredibly variable disease, it is tricky to diagnosis, and even patients with very clear cut and confirmed diagnosis are having to deal with Drs. who don't believe "they have Mito because Mito is terminal in infancy".

Fact: Mito is not a terminal disease of infancy(the smallest percent of patients are of the severest onset)though it can be terminal. It occurs at any age. Most don't have a known genetic mutation. The majority of Mito patients aren't terminal, but chronically ill.


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