Wednesday, September 21, 2011

Mitochondrial Awareness Week

If we're Facebook friends, you probably already know it is Mitochondrial Disease Awareness Week! Although KayTar has not been diagnosed with this disease...she has many symptoms in common with this condition and may one day be diagnosed with it. Regardless of whether she does or does not have this particular disease, awareness still needs to be generated because all of the precious kiddos that do have mitochondrial disease need a cure (whether my girl is one of them or not!). Most people never hear about mitochondrial disease unless their child is being tested for it or is diagnosed with it!

Mitochondrial disease affects roughly 1 in 3000-4000 children, in comparison the incidence of childhood cancers is 1-2 in 10,000 and the incidence of cystic fibrosis is 1 in 3500. Although mito has a similar incidence of these two diseases, it is much less well-known!

Mitochondrial disease is caused by a defect in the mitochondria in cells. Mitochondria are the organelles that convert the nutrients in your body into ATP, which is the energy it uses to power your cells. As cells run out of energy or run on less than optimal amounts of energy, organs begin to show signs of damage. Mitochondria also have specialized functions in different cells in the body, so when they are not functioning properly, it affects some tissues in more profound ways.

Mitochondrial disease is incredibly hard to recognize even for physicians, not only because it is not as well-known as other conditions, but also because of the huge variation of symptoms. Even within the same family, with the same genetic defect, children present in very different ways. Click here to see a list of the possible symptoms of mitochondrial disease. They say to think mito when 3 or more different organ/systems are affected by an undiagnosed disease.

There is no single test that can diagnose or rule out mitochondrial disease with certainty across all cases. Laboratory tests, imaging studies, and even muscle biopsies often only give part of the answer. Diagnosing mitochondrial disease is like putting together a puzzle, but most physicians are not equipped to recognize that the pieces all belong to the same puzzle! Often pieces of the puzzle are parceled out to various specialists and no one looks at them all collectively. There are only a handful of mitochondrial specialists in the US and it takes most people years to be properly diagnosed.

For a first hand perspective on life with mitochondrial disease (and more great info!), visit some of our blog-friends:
Life with The Ferrells
Life with Jack
Bricen's Way
Our Exceptional Life
Mito Life Window


Gizabeth Shyder said...

My dad, neonatologist, has had some brushings with mitochondrial disease. In his experience, the symptoms are so varied, that even the experts cannot predict outcomes of future offspring. He once had a child, who only lived shortly, diagnosed with one post-mortem. The experts said the parents - dad was a resident - could never have a kid without one. They went on to have a completely asymptomatic, "normal" kid. I think these entities are pioneer, for us, as you know better than I, having read much more about it.

leah said...

Mito is such a conundrum for doctors to diagnose. I've worried about it with Nolan, though if he had it, it would have to be a VERY mild presentation. When he's really sick and having terrible gut/reflux issues, I worry about it more. When he's doing really great, I think that he couldn't possibly have something of that nature.

I hope you get clearer answers with KayTar. SOmetimes the not knowing is the worst...

Shellye said...

Wow...I have read your entire blog from top to bottom, and judging from the symptoms you mention that KayTar experiences and the plethora of symptoms associated with mitochrondrial disease/disorder, I will be surprised if KayTar is not ultimately diagnosed with mitochrondrial disease.

I also want to say that I enjoy reading all of your postd, no matter how mundane they seem to you. "I Took A Nap" was one of my favorites.

I also enjoy KayTar's quotes. She is quite an intelligent young lady and despite her undiagnosed condition, I know that she will be successful in whatever career path she chooses.

Thank you for sharing. I pray for you and yours daily. I look forward to your next post.

Shellye H. Townsend

~aj~ said...

I admit I was clueless to mito until I started learning bits and pieces from you. And I had no idea it was so common!