Tuesday, September 23, 2008

Mitochondrial Disease Awareness Week

Mitochondrial Disease Awareness Week
September 21-27, 2008
Mitochondrial Disease affects 1 in every 4000 people. Mitochondria are tiny “engines” that live inside our cells and they are responsible for converting food and oxygen into energy. When the mitochondria aren’t working properly the cells don’t get enough energy to live, and they begin to die. Many parts of the body can be affected by deficient Mitochondria including the liver, kidneys, eyes, digestive system, brain, and the heart. Mitochondrial disease is not a simple disease, it can affect any organ, it is progressive, and to date has no cure, but with awareness comes power, and a cure.
I have come to know many, many families whose kids have Mitochondrial Disease in the last year. At least 10 of them have died in the last year. It's a horrible disease because there is no cure, no good treatment, and no prognosis. It's a huge spectrum and if you had 2,000 in a room that all had Mitochondrial Disease you'd probably never find 2 that were affected the same. Some people are affected very mildly and others die from the disease at a young age.
Out of everything we've ruled out for Emeric this is one thing that has not been able to be ruled out. His urine and blood tests show signs of Mitochondrial Dysfunction but the "gold standard" in terms of diagnosis is a positive muscle biopsy. Emeric's was normal. Some doctors would diagnose him with Mitochondrial Disease based on symptoms and lab abnormalities and other doctors will only diagnose Mitochondrial Disease if you have a positive biopsy or a blood DNA mutation. The blood DNA is what Emeric recently had done and we have not received the results. Most people with confirmed Mitochondrial Diseases do not ever find a DNA mutation so it's a stretch that Emeric's will show up anything.
We've been told that despite a normal muscle biopsy Emeric could still have the disease. In fact, our specialist told us that if this had been a few years ago he'd have just diagnosed Emeric with Mitochondrial Disease but now they know more and they've found that there are other conditions that can cause mitochondrial dysfunction so if they just label it as Mitochondrial Disease they might miss the primary condition. If that makes sense. The problem in Emeric's case is that most primary conditions have been ruled out.
We do know that Emeric has signs that the mitochondria aren't healthy. However, even if we were to get an "official" diagnosis of Mitochondrial Disease nothing would change. He's already on what's called the "mito cocktail" which are supplements that are thought to possibly slow down the progression of the disease. At the same time having a diagnosis is beneficial because there are specific protocols that need to be followed if a child with Mito is sick.So, whether Emeric has this disease or not it doesn't matter because I have come to know so many families who struggle with the unknowns of this disease daily.
Here's a good link(I've probably posted it before!) from the United Mitochondrial Disease Foundation's website with some FAQ's:
Some children have very extensive multi system involvement and another little boy I know was diagnosed with Mitochondrial Disease and his only symptom was migraines that started at 2.5. So there is a huge range which makes it so hard to diagnose!


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