August 2016 – Samsmom

We are are 72 hours out from closing our 8th year as Summits for Samantha.

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.

Good lord.

“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.”

“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

This might come as a bit of a surprise….

But there were a few instances in my young adulthood where I was a bit of a dirtbag.

Only a few.

And just a tad 🙂

So I am somewhat empathetic to those who find themselves making bad choices. My reaction is not a judgement but more of a ‘oof…..that’s going to hurt.’ and ‘this too shall pass’ combo.

But there comes a time when you just need to own your mistake. When you need to say to the world, ‘That move I just made? That was a dirtbag move and I’m sorry. It’s not really me, it’s just a move. Please forgive my act of dirtbagginess.’

And the World, having experienced many dirtbag moments, is usually forgiving.

But you gotta own it.

It’s when you sweep it under the rug that things get messy. Dirtbags tend to grow with lies.

I was sad to hear that four Olympic swimmers were robbed at gun point. But I was floored when I heard that it was fabricated in order to hide a night of decisions that could have been better.

Because most of us understand a night of bad decisions.

Many of us have wee’d in a public place after too many Pisco Sours.

My public wee’ing however has usually been outside of the convenience store, not inside next to the Funyuns.

Reason number one is that consuming a bag of Funyons was going to be my next bad decision.
Reason number two is that public urination is frowned upon in any circumstance, but particularly nasty inside a public place.

But we probably would have turned an eye. It would have been a stink eye but we would have turned it.

We would have been disappointed with the bathroom door and belligerent behavior but we still may have purchased the box of Wheaties with your face on it.

Because Wheaties are delicious

Not really.

But the trifecta was to lie to the world.

And to lie to Matt Lauer. Matt Lauer! Which is like telling your best friend’s Dad you don’t know who bought the beer for the party and threw up on the cat as you are hiding your fake id in your shoe. Alas, I can stomach many things…….

Many of us have had night. We have had to come to the table the next morning with our dirtbagginess and own it.

We have not been in the spotlight that these four swimmers are in but ownership and apology go a long way and many of us respect that.

I however have no respect for wee’ing next to the Funyons and then saying that your cousin did it.

And ya’ll know how I feel about Matt.