I've found some good information on Mitochondrial Disease that I thought might help people understand more what the disease is.
Here's an excerpt from the UMDF(United Mitochondrial Disease Foundation) website that explains what Mitochondrial Disease is:
Basis of the DiseaseMitochondrial 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.
Depending on which cells are affected, symptoms may include loss of motor control, muscle weakness and pain, gastro-intestinal disorders and swallowing difficulties, poor growth, cardiac disease, liver disease, diabetes, respiratory complications, seizures, visual/hearing problems, lactic acidosis, developmental delays and susceptibility to infection.
This is a good video that explains mitochondrial disease and I found it really interesting and informative:
Right now our neurologist believes he has a possible neurotransmitter disease that is causing the mitochondrial dysfunction. We won't know this for sure until we have the spinal tap done. This is treatable with a medication called L-Dopa, which is a synthetic form of Dopamine.
Here's a link the the Pediatric Neurotransmitter Disease website:
It's hard to say whether Emeric's symptoms are caused by the Mitochondrial dysfunction or the Neurotransmitter Disease. My understanding is that the reason the neurologist believes he has this neurotransmitter disease is because he has generalized seizures, meaning the seizures don't start in one specific point in the brain but rather all over the brain and on both sides. Generalized seizures aren't common with mitochondrial disease. Most patients with mitochondrial disease have Partial seizures so I think Dr. Parikh, the neurologist is looking at possible treatable causes of the Epilepsy, which would be this neurotransmitter disease.
In the meantime we'll hopefully be able to start him on the supplements they want to give him to help with energy and to slow down the progression of the disease.
I want to thank everyone who prays for him. This week has been a really hard week because a woman on an online support group that I'm on lost her 14 year old son on Tuesday to mitochondrial disease. It's scary to know that can happen. Not that it will, just knowing that the possibility is there is always on my mind.