I've had many ask why we are making this trip to Atlanta. It's such a hard story to explain. But the short version is that Samantha has become sicker and sicker and we have no idea why. She is always tired, has developed very low blood pressure, low blood sugar, sleeps a LOT, has memory issues and a ton of other things not associated with her EoE. There is a genetic mito specialist in Atlanta - one of only a few in the country that is familiar with mitochondrial diseases. Now what is mito you may ask? I have copied a short version from www.mitoaction.org
but their website has so much more info.
What is Mitochondrial Disease?
Mitochondrial disease is a chronic, genetic disorder that occurs when the mitochondria of the cell fails to produce enough energy for cell or organ function.
The incidence about 1:3000-4000 individuals in the US. This is similar to the incidence of cystic fibrosis of caucasian births in the U.S.
There are many forms of mitochondrial disease.
Mitochondrial disease is inherited in a number of different ways
Mitochondrial disease presents very differently from individual to individual.
There may be one individual in a family or many individuals affected over a number of generations.
Affects multiple organs, affects multiple family members, affects multiple generations.
Lack of awareness and understanding of the disease
Families are continuously forces to expend their very limited energy to explain their disease, advocate for themselves and fight for services.
Mitochondrial disease is often an " invisible disease."
Good day - patients look fine and healthy. They have more energy and appear rested.
Bad day - - patients appear tired to significantly ill. They are obviously fatigued and/or have significant illness. Repeated "bad days"often lead to decompensation and patients have difficulty returning to baseline.
Mitochondrial disease is unpredictable. Day to day, hour to hour patients can develop symptoms and their stability can be threatened.
We appreciate all of the help we received so far to get Samantha to Atlanta and get the help that she needs.