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So, around his twelfth birthday, my nephew Armand had a seizure. Specifically a Grand Mal Seizure.
Those are the really bad ones, like you see in movies, where people convulse. The seizure you see in Alien? That's a Grand Mal. Except that they usually aren't followed by s little phallic alien bursting through your chest.
Now, my nephew's seizures were, for a long time, a mystery. He didn't have epilepsy, encephalopathy, or any of a whole slew of diseases with long gibberishy names with Latin roots that usually cause seizures. He had, what I have jokingly called for years 'mystery disease x'.
The doctors didn't know what the hell was wrong with him.
They knew he had 'frontal lobe seizures' which means his personality was affected, and he has mood swings. He has almost no energy, he can't last an entire day at school.
He's almost fifteen now, and they've finally, finally figured it out. I almost liked 'mystery disease x better, he had a chance then. I could joke about my nephew being a bona fide medical mystery, and demand to know the location of Dr. House before. Now it's all deadly serious.
He has something called 'Alpers' Disease' that affects the brain. It's a kind of Mitochondrial Disease, a defect in the mitochondrial DNA. Mitochondria are little pill shaped things inside your cells, that you may or may not remember from biology class as the things that store your cells energy. And they have such an important job that they have their own DNA. A defect in this DNA, causes Mitochondrial Disease, which can cause the lack of energy.
Alpers Disease in particular is a nasty thing that usually makes an appearance early in life. And those affected usually die before they reach ten years of age. To not have any symptoms until twelve is very rare. The disease slowly destroys the brain and liver, hence the seizures. Patients slowly love their memory and comprehension, kind of like with Alzheimer's.
It is always fatal, leading to eventual liver failure. There is no know cure for Alpers'.
Not really sure why I'm posting this, except that this is really badly understood disease that hardly anyone has heard of. People with it can be fine one moment and awful the next. Look perfectly normal one day, and the next day not be able to balance enough to walk at all, and not be able to string together words for sentences.
This isn't one of those diseases like cancer, with a million celebrity fundraisers and charities, no one knows about it. About the only person who champions it is Jack Black, Who has a family member with Mitochondrial Disease. At least we have the guy who stared in School of Rock and Kung Fu Panda on our side.
Those are the really bad ones, like you see in movies, where people convulse. The seizure you see in Alien? That's a Grand Mal. Except that they usually aren't followed by s little phallic alien bursting through your chest.
Now, my nephew's seizures were, for a long time, a mystery. He didn't have epilepsy, encephalopathy, or any of a whole slew of diseases with long gibberishy names with Latin roots that usually cause seizures. He had, what I have jokingly called for years 'mystery disease x'.
The doctors didn't know what the hell was wrong with him.
They knew he had 'frontal lobe seizures' which means his personality was affected, and he has mood swings. He has almost no energy, he can't last an entire day at school.
He's almost fifteen now, and they've finally, finally figured it out. I almost liked 'mystery disease x better, he had a chance then. I could joke about my nephew being a bona fide medical mystery, and demand to know the location of Dr. House before. Now it's all deadly serious.
He has something called 'Alpers' Disease' that affects the brain. It's a kind of Mitochondrial Disease, a defect in the mitochondrial DNA. Mitochondria are little pill shaped things inside your cells, that you may or may not remember from biology class as the things that store your cells energy. And they have such an important job that they have their own DNA. A defect in this DNA, causes Mitochondrial Disease, which can cause the lack of energy.
Alpers Disease in particular is a nasty thing that usually makes an appearance early in life. And those affected usually die before they reach ten years of age. To not have any symptoms until twelve is very rare. The disease slowly destroys the brain and liver, hence the seizures. Patients slowly love their memory and comprehension, kind of like with Alzheimer's.
It is always fatal, leading to eventual liver failure. There is no know cure for Alpers'.
Not really sure why I'm posting this, except that this is really badly understood disease that hardly anyone has heard of. People with it can be fine one moment and awful the next. Look perfectly normal one day, and the next day not be able to balance enough to walk at all, and not be able to string together words for sentences.
This isn't one of those diseases like cancer, with a million celebrity fundraisers and charities, no one knows about it. About the only person who champions it is Jack Black, Who has a family member with Mitochondrial Disease. At least we have the guy who stared in School of Rock and Kung Fu Panda on our side.
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