Thinking Out Loud

Our family has had a lot of ups and downs over the last 3 years 4 1/2 months with Zachary.

Getting into see a new doctor is nothing new to us but what is new is the fact this one is very specialized. We see specialists, LOTS of them, here in town but none like this. For each doctor we see there has been a reason - mainly a system is off with Zach, so we see someone in hopes they will help and find out what is wrong...

So far, NADA! We hear "Yep, this or that is happening, but why? We don't know." "It is hard because he has so many systems involved" "We've never seen a case like this before" "It must be rare or never seen by anyone before now" "We'll treat the symptoms, that is all we can do!" "We can't tell you why this symptoms are happening, they just are." "Let's make him as comfortable as we can"

Hearing these over and over is of course very repetitive but more so it is VERY frustrating to us.
It is like a new friend wrote to me:
"I'm so hoping that the doctor in Atlanta will have answers--no matter what, as we learned when Jamie was 9 1/2 , having an answer(s) truly is better than not knowing how to help your child. Of course, now if they could find a cure , that would be even better :) But, we treat symptoms, and that is surely better than not knowing what the symptoms are symptoms of. "
She totally nailed it on the head with all of it especially for us the symptom aspect of it all.

The whole reason to go to Atlanta is
A: Because of Emmy's long talk with me she lead us in a direction
B: Because I brought it up with the doctors we now have 3 doctors who believe this rare issue just may be what Zach has.
C: There are very few doctors who specialize in Mito diseases and this doctor in Atlanta is know as one of the best!

What we are looking for is Mitochondrial Disease:
(http://en.wikipedia.org/wiki/Mitochondrial_disease)
Mitochondrial diseases are a group of disorders relating to the mitochondria, the organelles that are the "powerhouses" of the eukaryotic cells that compose higher-order life-forms (including humans). The mitochondria convert the energy of food molecules into the ATP that powers most cell functions.
Mitochondrial diseases comprise those disorders that in one way or another affect the function of the mitochondria or are due to mitochondrial DNA. Mitochondrial diseases take on unique characteristics both because of the way the diseases are often inherited and because mitochondria are so critical to cell function. The subclass of these diseases that have neuromuscular disease symptoms are often referred to as a mitochondrial myopathy.

OR simply put it is a disease that affects ones way of producing energy. It affects each individual differently - no two people will present symptoms the same.

• About one in 4,000 children in the United States will develop mitochondrial disease by the age of 10 years. One thousand to 4,000 children per year in the United Sates are born with a type of mitochondrial disease.

• There are no cures for mitochondrial diseases, but treatment can help reduce symptoms, or delay or prevent the progression of the disease. Treatment is individualized for each patient, as doctors specializing in metabolic diseases have found that every child and adult is "biochemically different." That means that no two people will respond to a particular treatment in a specific way, even if they have the same disease.

• The types of mitochondrial diseases are categorized according to the organ systems affected and symptoms present. Mitochondrial diseases might affect the cells of the brain, nerves (including the nerves to the stomach and intestines), muscles, kidneys, heart, liver, eyes, ears, or pancreas. In some patients, only one organ is affected, while in other patients all the organs are involved. Depending on how severe the mitochondrial disorder is, the illness can range in severity from mild to fatal. (highlighted are what systems are all ready affected for Zachary)

• The severity of mitochondrial disease symptoms is different from person to person. The most common symptoms are: (I have highlighted Zach's symptoms)
  Poor Growth
  Loss of muscle coordination, muscle weakness
  Neurological problems, seizures
  Autism, autistic spectrum, autistic-like features
  Visual and/or hearing problems
  Developmental delays, learning disabilities
  Heart, liver or kidney disease
  Gastrointestinal disorders, severe constipation, diarrhea
  Diabetes
  Increased risk of infection
  Thyroid and/or adrenal dysfunction
  Autonomic dysfunction
  Neuropsychological changes characterized by confusion, disorientation and memory loss.

• Once a patient is diagnosed with a specific mitochondrial disease, the patients medical problems have already been identified or can be identified with proper testing so treatment can be initiated to relieve symptoms and delay the progression of the disease.
  There is no way to predict the course of mitochondrial diseases. They might progress quickly or slowly, even over decades. The disease might also appear stable for years.

I am aware we do not know if this is what Zach has or not. There are many other symptoms of this disease that are not as common that Zach also exhibits. To us it makes sense that this really may be the answer we've been seeking for the last 3 years 4 1/2 months. Please pray that we find an answer for Zachary whether it is this or something else, we need a name so we can help Zach the right way and give him the life he deserves as normal as we can.