Nathan Notes

So many tender mercies with what we've found with this new mutation.  I feel like it has the ability to open new... Maybe better doors? For him. So as devastating as it seemed to get that news Tuesday...I won't if looking back 10 years from now it will make more sense.  What I've learned so far about mt-atp6: 1) we've probably made the best medicine decisions for him (depakote is contraindicated for mt-atp6 but was our next choice as it's now considered the #1 Dravet drug  2) general anesthesia is really hard on his body. Specifically the gasses and propofol, what they would have been using for the trial 3) keto diet is one of the best diets to have him on (soooooo validating)  4) the investment in Dr. Frye has been  worth it. It's validated everything we've done with him.  5) sicknesses are so so hard on the body with mt-atp6. This explains so much- the extra seizures, how he is sick twice as long as everyone else and usually needs antibiotics. We *might* ...

 In the context of mitochondrial disorders like those caused by MT-ATP6 gene mutations, an acute, severe metabolic crisis is a life-threatening medical emergency. It occurs when the body’s energy demands suddenly outpace its ability to produce energy, usually triggered by the stress of a common illness. Here is a breakdown of why this happens and what it looks like: 1. The Trigger While a person with a mitochondrial mutation may function relatively well day-to-day, their "energy reserve" is very low. When they get a standard illness—such as the flu, a stomach virus, or even a high fever —the body's metabolic demand spikes. Because their mitochondria cannot "rev up" to meet this demand, the system begins to fail. 2. The Metabolic Chain Reaction When the mitochondria (the cell's power plants) cannot produce enough ATP (energy), the body switches to backup "emergency" pathways that are much less efficient. This leads to: Lactic Acidosis: A dangero...