I spent last Friday at the Mitochondrial Biology Conference in Seattle.
Say what?
I can practically see you wondering what the hell is mitochondrial biology?
I know because back in 1995 I had never heard of mitochondrial disease.
Then after 6 weeks of seizures and reversal of developmental milestones, my youngest son Brennan was diagnosed with a presumed mitochondrial disease called Alpers Syndrome.
Back in 1995 I was told the incidence of Alpers was 1 in 5 million births.
I figured I could have won the lottery with those odds.
I had won the crappy genes lottery and boy, was I ever pissed!
Last Friday I learned the incidence of mitochondrial diseases in more like 1 in 1000 births.
This statistic is likely even more common than that estimate as many of the children with a mito disease are misdiagnosed.
Many mito diseases are virulent and uniformly fatal. (That is exactly how the child neurologist said it to me, uniformly fatal.)
In other words, these kids die.
Mito diseases originate in errors in mitochondrial or nuclear DNA.
My son died in 1996 at the age of 10 months and 11 days.
The first test that discovered the gene that causes Alpers happened later that year from another child.
I understood about 70% of what was discussed at the Mito Conference. Pretty good for a girl who does not have a medical degree nor a PhD in biochemistry.
The average IQ in this room was about 180, not including me. I lowered the curve so to speak.
At the mito conference were some of the most brilliant minds in the mito disease community.
There were researchers and MDs from England, Australia, and the United States.
My son Brennan Reed was born March 22, 1995. He was pretty normal. Except I had this niggling feeling something was off. Nothing I could put my finger on, nothing definitive.
Until he began having intractable seizures.
Imagine watching your five and half month old baby having massive seizures out of nowhere. It was terrifying. It was also confirmation something was very very wrong.
If you would like to know more about my experiences with Brennan go here.
There is progress in diagnosing mito disease. There is even progress in treating some forms of mito disease. There is hope. There are clinical trials going on around the world.
Please be aware that there is mito disease out there.
Be aware that mito diseases are devastating.
Be aware many mito diseases are inherited and you will not likely know you are a carrier until you have a child/relative diagnosed with mito disease.
The federal government is finally funding mito disease research.
Mito disease kills more children than cancer.
Not all mito disease are fatal. Some cause blindness or developmental delays or even cardiomyopathy.
The entire course of my life changed due to mito disease.
Be aware.
Go to the United Mitochondrial Disease Foundation to learn more.
