Sunday, September 20, 2009

Mitochondrial Disease Awareness Week...facts about mito


The 3rd full week in September has recently been devoted to Mitochondrial Disease Awareness. How many of you had heard of this disease before Nathan was diagnosed with it? Personally, I heard about it for the very first time during an Oprah episode a few years ago when an adorable boy by the name of Mattie Stepanek was interviewed. I remember the fact that this boy and his mother were afflicted with some disease, and she had 2 sons and a daughter already pass away from the effects of the disease. The disease was mitochondrial myopathy...mitochondrial disease. I also remember thinking "what a horrible disease to affect a child so harshly, yet I was also stricken with joy as I saw Mattie's obvious zeal for life and peace and happiness. How incredible that a child that was in pain and discomfort most of his life would have such a positive outlook on everything around him!

The second time I was introduced to the term "Mitochondrial Myopathy" was on July 3rd, 2008...at a neurology appt for my 4 month old son. This disease was at the top of the differential diagnosis for our little Nathan, and after months of further testing, it proved to be the exact diagnosis for him. Mitochondrial Encephalomyopathy (or Cytopathy or Disease...whatever your flavor) was the disease Nathan was diagnosed with on February 2, 2009 after a fresh muscle biopsy showed a defect in Complexes I and III in his mitochondria.

But what is Mitochondrial Disease?

"Mitochondria are organelles in almost every cell (with the exception of red blood cells) of the body that are responsible for creating 90% of the energy needed 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.

What is the prognosis for these individuals?

As more research dollars are raised to find more effective treatments and ultimately a cure, some of the affected children and adults are living fairly normal lives with mitochondrial disease. At the opposite end of the spectrum, many are severely affected, and some children do not live past their teenage years.

When is someone with Mitochondrial Disease at highest risk?

The child or adult is at risk for neurological or organ damage during and for the two weeks following an illness. Therefore even a simple flu or cold virus can have devastating effects on the patient, even death. Any illness must be treated immediately with medical interventions, like IV fluids and IV antibiotics.

How many individuals are affected?

Every 30 minutes, a child is born who will develop a mitochondrial disease. Each year, 1000 to 4000 children in the United States are born with a mitochondrial disease. While exact numbers of children and adults suffering from mitochondrial disease are hard to determine because many are misdiagnosed with atypical cerebral palsy, various seizure disorders, childhood diseases and diseases of aging, we now know that the disease is approaching the frequency of childhood cancers."


The answers to the questions above were taken from the United Mitochondrial Disease Website: www.umdf.org. Please visit this site for more information on mito and how it affects its patients.

Stay tuned throughout the week for more information about mitochondrial disease. Because raising awareness will help raise funds for the research and treatment of this awful disease.

5 comments:

Anonymous said...

Wow Amber, I had no idea that so many people had mitochondrial disease. In fact Nathan is the only person I have ever heard of having it. Thanks for raising awareness and keeping us updated. I pray they will find a cure~Love, Amanda McCook

Liz said...

Very well said...you explained it perfectly.

Nicole, Drew, Jack, Megan, Sophie, and Lucy too on September 21, 2009 at 3:20 PM said...

I am doing the same thing over on our blog, trying to raise awareness for this disease that effects us and many others. Very nicely done! I hope that by the end of this week I will have written Lucy's story up until now. One minor problem, what am I going to do with all my kiddos while I do this? Keep up the great job, we are so blessed that you are an advocate for mito!

Leylasdad on September 22, 2009 at 9:46 AM said...

Excellently explained. Great article. I'm in the UK, and unfortunately MITO awareness is even lower here - but the US is always ahead of the curve, and hopefully the momentum you're building will carry across the Atlantic to these shores too.

Keep up the good work!

Heidi and our Jack. on September 27, 2009 at 8:09 AM said...

Good Job Amber, I should of done more on my blog this week to help spread awareness :( I have no excuse, just spent our week dealing with Jack isssues. Its interesting that you mention Matti S., as I remember that Oprah show very well too. Thinking, how awful, that poor mom, I cant imagine what she's going through. So ironic...at the time, I didnt know I would be that mom just years later. Thanks again and big hugs to your "big" boy for me(ok, I loved those curls but that haircut is so sweet!)

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