This year collaborative efforts from Summits for Samantha, Miracles for Mito and generous personal donations marks $1 Million donated to the Mitochondrial Clinic at CU Anschutz…..ridiculously proud does not do justice to how I feel about this number.
It’s pretty fun to make this announcement during Mitochondrial Awareness week- a week committed to education and awareness about this incredibly sucky disease. If you know me and have traveled on this journey, you know ALL ABOUT your mitochondria and the need to love them unconditionally. LOVE YOUR MITOCHONDRIA!!!!!
But I have a confession……
16 years ago I really knew nothing about my mitochondria. I knew them from biology class as the Mighty Mitochondria, the powerhouse of our cells but I really had no idea how freakin’ awesome and instrumental they are to life.
I miss those days.
A mitochondrial diagnosis is so hard. Half the journey of getting to a mitochondrial diagnosis is getting the disease diagnosed. And after many tears have been shed, many of us sit across from a specialist to only hear fated words…..
There is no cure……
Progressive……
We just don’t know……
And we walk away wondering…..how can you not know? How can you not tell me what to expect? How can you shrug your shoulders? How can there not be something, something hopeful or at least definitive that you can tell me?
It sucks being a medical pioneer. Or having your child be a medical pioneer or in many cases, many Loves in your family, being a medical pioneers; to be the first to adapt to new technologies, medicines and therapies…..
And in many cases we are the first……The first family to have a certain mutation. The first to be part of a clinical trial. The first to rally around new FDA guidelines. The first to try an off-label med.
Why is Mito so hard?
In many ways Mito is new territory. The first molecular diagnosis of a mitochondrial disorder was in 1988- 33 years ago.
33 year ago I was a junior in high school. Now, I KNOW I’m an old lady but when the Greek physician Hippocrates (460-370 BC) used the word carcinoma to describe cancer forming tumors, you know we are a bit behind in Mitochondrial research.
Ironically, both cancer and mitochondrial research have advanced significantly since I was a junior in high school- much of this has come from the world’s largest collaborative biological project- we mapped the human genome. It took us 13 years to map the base pairs that make up the human DNA. This mapping has been a springboard to faster genetic diagnosis’, identifying causes of rare diseases and ultimately therapies and cures to these diseases.
In 1988 we identified ONE molecular diagnosis of a mitochondrial disorder. In 2021, we have identified over 260 genetic mutations that contribute to mitochondrial myopathy.
Is 33 years the speed of light?
In the realm of science, 33 years is pretty fast.
But when your Love is suffering, progress seems horribly, frustratingly slow and we will never get there in time. For those watching skills slip away, for those who live everyday in the face of a progressive disease, nothing is fast enough.
And for that, there is nothing I can say except for I get it. And believe it or not, science gets it too and our amazing doctors at Anschutz…..yeah they get it.
May the next 33 years be absolutely unbelievable.
Samsmom 