Friday, September 25, 2009


Roughly 2 years we started on a journey that I didn't know would take this long, be this serious or be so full of nonanswers. I took Zach in because he wasn't nursing from one side and I noticed that the muscles in his neck were tight and he had trouble turning to that side. I totally expected to be told not to compare him to Aden, that Zach was a different child. The Ped looked at him and proceeded to check his muscle ton and do some tests... this is when our world offically changed forever. Because of the muscle tone and not being able to nurse, Zach at 2 months old was labled as Failure to Thrive. I was heartbroken to go through this again but I was confident that I could, that we could handled it. We slowly realized that he wasn't gaining and through many hospitalizations, we got an NG tube, a G tube and everything else.

Finally we decided to do genetic testing, we found out that he is missing part of chromosome 1 (1p35.2 to be exact) and we were delighted not that he was missing it but that we had an answer, then they tested me and I didn't have it, Great this is what is wrong with him. They then tested Adam and guess what he had the deletion as well, so that means that it isn't the cause of his problems. We stayed several months trying to figure out what to do and him not really gaining (he is 17 pounds barely) and begining to have major issues with muscle tone and other things. We finally decided more testing was due.

After a long wait we found out that he has defects in the mitochrondia in complex 1 and complex III. We aren't sure what it means but we do know that it shows us that all the heart ache and the issues have a name.... my sweet baby boy has MITO.

The mitochondria act as the “powerhouse” of the cell to produce energy for the body to live. Mitochondrial disease is an energy metabolism disorder that affects babies, children, and adults of all ages, races, and gender. Experts agree that at least 1 in 4000 children and adults have mitochondrial disease; however, "Mito" may be under diagnosed until improvements in diagnosis and awareness occur.

Symptoms of “Mito” vary in type and severity, and may include profound muscle weakness and fatigue, seizures, gastrointestinal dysfunction, developmental delay, vision and hearing loss, and unexplained organ failure.

Today there is no cure for mitochondrial disease; treatment is focused on energy conservation and vitamin therapy.

Mitochondrial dysfunction has been related to other diseases including autism, diabetes, Alzheimer's and Parkinson's disease and aging.

• Every 15 minutes a child is born that will develop mitochondrial disease by age 10.

• It is estimated that of the 4 million children born each year in the United States, up to 4000 develop mitochondrial diseases.

• At least 1 in 200 individuals in the general public have a mitochondrial DNA mutation that may lead to disease.

• There are over 40 identified types of Mitochondrial Diseases and believed to be over 100 variants of mitochondrial diseases

• In the United States, more than 50 million adults suffer from diseases in which mitochondrial dysfunction is involved. Mitochondrial dysfunction is found in diseases as diverse as cancer, infertility, diabetes, heart diseases, blindness deafness, kidney disease, liver disease, stroke, migraine, and the toxicity of HIV and other drugs. Mitochondrial dysfunction is also involved in aging and neurodegenerative diseases such as Parkinson and Alzheimer dementia.

• The World Health Organization (WHO) calculates that neurodegenerative diseases, also associated with mitochondrial dysfunction, will become the world's second leading cause of death by the year 2040.

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