That's right, in 72 hours I will stop my plea for donations to my ride and start my requests for RSVP's to our silent auction.
I apologize now.
It has been another banner year, our third year hitting six figures for the Mitochondrial Clinic in Colorado.
"That is so super great, Heather." you say, "But this is my bazillionth year donating to your crazy ride. Um, what are you really doing with my money?"
Well sit on down dear fundraiser......I'm going to tell you a story.....
This June I was at the United Mitochondrial Disease Foundation Symposium. I was stressed and worried. Our amazing president was at home with her son Jacob, he was far too sick for her to travel. I was worried about them all.
And I was presenting for two hours on Grief and Resiliency.
I love to talk. But two hours about Grief....holy schmoly.
I sat at lunch with my mom and fellow Mito mom, Tina; reviewing my notes, trying to figure out how to make grief fun for two hours and eyeing the last piece of key lime pie.
Our Mito Doc, Dr. V came up next to me.
"I want to talk to you about the lab." He said.
"Okay." I said in return.
Because when a world renown Mito doc seeks you out at an International Mitochondrial conference to chat, you listen.
I am not a world renown Mito doc. I was a mediocre English major and a really good ski bum. But I donned my very best thinking hat and listened as he told me what our ride was supporting.
"We are in the very early stages of developing a method for the delivery of a functional protein to cells and subsequently to their mitochondria," He said, "Our eventual goal is to be able to restore normal activity of a defective protein known to be responsible for the mitochondrial defect through the targeted delivery of the functional protein into the mitochondria."
I listened so hard my eye balls hurt. Why, WHY didn't I pay more attention in biology.
"But Samantha's deficiency wasn't in a protein," I said. "It was in her gene, her POLG 1 gene."
And this is where I love Dr. V., because he told me this story about our genes and our proteins.....that it is the job of the gene to tell the protein what to do. That the POLG1 makes a protein called polymerase gamma. Polymerase gamma plays a role in the process that converts food into energy that cells can use.
CARS2, the gene mutation that Jacob had is also a protein coding gene known as Cysteinyl-TRNA Synthetase 2 and when having a mutation, also contributes to oxidative polyphosphorylation deficiency, or mitochondrial disease. In fact, Dr. V discovered the CARS2 gene as being another gene contributing to mitochondrial disease.
"So our genes are maps to tell the proteins what to do?" I asked Dr. V.
He gave me the sweetest look a world renown Mitochondrial Doctor can when talking to an English major.
"In a sense, yes."
"WHY AREN'T WE DOING THIS???" I asked.
"We need a delivery mechanism." Dr V. said. "A way to get the cell to accept the protein. We need a peptide."
And then Dr. V talked about amino acids bonding with peptides to create a delivery format for polymerase gamma or Cysteinyl-TRNA Synthetase 2, whatever the protein may be.
"If we do this, will mitochondria function improve?"
'That is our hope," he said.
And then I swear....My thinking cap exploded....tiny little pieces into that slice of key lime pie.
I went on through the day to present on Grief.
I went on the next day to learn that we were losing Jacob.
And I had a good cry about it all in the Seattle airport.
Dr. V has always said he does not want to be named after a disease. He wanted to be named after a cure. That weekend was so hard and heartbreaking but one thing resonated......
We are doing such good work in the investment of this clinic.
And this investment is so needed.
So that, dear friend, is where you money is going. I hope you are as proud to give as I am to represent.
You are making a difference.
I have enclosed a photo of proteins being absorbed by monkey cells. Crazy, amazing stuff