Thursday, October 4, 2018

I Was Born in the Rain on the Pontchartain



I found myself in San Antonio this week at the Mountain States Regional Genetic Conference.

I love Scientists.

I swear.

Thank you for being awesome and amazingly smart and wanting to change the world. I will continue to try and raise money for your efforts because I know you hate that part; ya’ll just continue to try and save us.
 
Science brought us newborn screening.
 

Did you know that 1 in 300 newborns have a genetic condition detectable through newborn screening? There are 31 newborn conditions, most states screen for 29. All of these conditions are treatable if identified early; some are fatal if not.

And time is NOT on your side. Successful cases had to do with an accessible lab, a committed medical team and an expedient relay of life saving information.

Diseases of the mitochondria are not part of the 31 BUT in 2012 Pulse Oximetry became part of the screen and they would have caught Sammers crazy O2 levels.

Who knows where we will be in six more years.

I heard many amazing stories the last couple of days. Amazing, life changing, my baby-is here-because-of this-science stories.

I love these stories.

But they are hard. I wanted us to be the life changing story. But we are not. So in the middle of all of these amazing stories, I have to remind myself not to be an asshole and pay attention and be grateful. Trust me, its better for all of us.

Day one was a long day.

Long days must be celebrated with margaritas on the River Walk. I sat next a lovely, slightly lippy Mom from New Orleans. We bonded immediately and decided we must be related in some way.

She talked about her Little and his diagnosis that was achieved through newborn screening.

‘He was born during Katrina,’ she said.

‘My God.’ I said. ‘He was born in the rain on the Pontchartrain.’

I realized what I said and that it could be taken as flippant.

‘No disrespect.’ I said, ‘I love that song. But oh my hell, you all are that family….in the hospital…. during the hurricane.’

Since we are certainly related in some way, she took no offense but we talked about these issues, when time is of the essence and great big freakin’ Katrina rears her ugly head. Or even when Katrina doesn’t rear her big head but when you live 300 miles from a lab, your baby is born on a Friday and the lab is closed over the weekend.

1 in 300 babies. Newborn screening is the most successful health initiative in the nation.

And it could still be better.

These last two days were amazing. As they always are when I’m with my people and can talk about our history freely.

Perhaps many of us were born in the rain on the Pontchartain

Underneath the Louisiana moon

Don’t mind the rain of a hurricane

They come around every June

High black water, the devils daughter

She’s hard, she’s cold and she’s mean

But nobody taught her, it takes a lot of water

To wash away New Orleans
- Band of Heathens
 

Friday, September 21, 2018

A Little Light :) By Angela


What a great way to end our week. Thank you Angela!
A Little Light

There have been so many topics I have considered writing about during this Mitochondria Awareness Week, then out of the blue on a busy evening here at our little farm came a call or should I say missed call.  Now when you receive a phone call from your son’s Mito specialist from his cell phone after clinic hours a million things race through your mind and not many of them are good.  So, when I hear the voicemail to please call back as soon as possible I got butterflies in my stomach.  Not the good kind when you are excited or giddy.  The kind when your nerves are on high alert and you kind of want to just throw up. Unfortunately, when you are a mito parent you know this feeling.  There have been many times when I have been nauseous with anticipation of what a doctor, specialist, or therapist was about to say. I have literally never had an afterhours call that has been positive.

                I immediately called back and was welcomed by some positive and exciting news!  So, our amazing Mito team at Children’s hospital has been working on some treatment with blood and getting really promising results.  They are trying to get a grant to further their research and need two patients’ blood to treat and submit the results.  Our Dr was calling to see if we would be willing to donate Cal’s blood because they thought they would have a great chance to show positive results with Calvin’s in particular.

                Yes, I know it’s not a cure or even a treatment but it is a little light.  This disease can be very dark and there are many lows so when you get a light you take it.  It may seem very minor to most people but mito parents hold on to the little lights and moments of positivity.  We can all appreciate the small movement of progress and hope for a snowball effect, for the science to some day take off like wildfire.

                When you are told when your child is about two years old that you should take him home and love him as it is not real likely he will live past three years old.  We were also told by doctors we’re very sorry but there was not treatment and it was not foreseen that would ever be.  Now during the Mitochondria Awareness Week there is light and hope!  Calvin has already been involved in one FDA trial for a medication for mito and now his blood will help continue research toward more treatment.  So love what your mitochondria do for you and we will continue to love and celebrate the progress and hard work that our team of doctors does for Calvin’s mitochondria.

Wednesday, September 19, 2018

Mito Awareness Week- Dreams


You may say I’m a Dreamer.

I had many dreams before mitochondrial disease. They were not extravagant. Or Outrageous. Sure, an Oscar nomination would have been lovely, or a Pulitzer prize, Olympic gold in the downhill….

I did have one, seemingly achievable dream.

I have always wanted to be a mom.

Many things in life are a mystery to me but I know I would have rocked motherhood. I have a collection of cheesy mom jokes, an endless supply of saliva to lick on a napkin and wipe on a forehead, and a series of Neil Diamond songs ready to be sung on cue.

My dreams are not extravagant.

And somehow they became impossible.

Its hard not to despise that POLG-1 mutation that took my babies. It’s hard not to hate the genetic makeup of who I am.

I could tell you it’s all for the best. That my babies were really sick. And you could tell me I’m full of shit and I would kiss you for your moxie and honesty. But it pains me to tell you my story- it pains me that my story makes you sad.
My burden of truth requires a donkey and an alpaca.

And despite the fact that alpaca’s are really cute, I don’t want to be sad and heartbreaking.

My brother, developed a foot drop ten years ago. Turns out he has the same POLG-1 mutation and now has a full-blown mitochondrial disease.

He also has mad mogul skills and has given me a passel of super fun nephews. His life is so very much more than what started as a foot drop. And he has dreams beyond.

We all had dreams before this asshole disease. This asshole disease now requires us to rethink our dreams or live a life a life thinking of what should have been.

I try not to should all over me. Should’s are messy, runny and they stain a good life.

I am fortunately surrounded by passionate non-shouldders who made me dream beyond this disease.

We CAN develop a community in this area.

And dream of a mitochondrial clinic in Colorado; our mitochondrial clinic that recently won an NIH grant to study the CARS deviation- Jacob’s genetic deviation. A clinic that received another large grant to study the efficacy of an MS drug and POL-G1 deviations

A clinic that hosts trial of a drug called Elamepretide. A drug whose sole responsibility is to smooth the membrane of the mitochondria to make exchange of energy from one cell to another easier.

A clinic that just became part of the Mitochondrial Network of Care- one of 22 sites in the country.

A clinic that was made sustainable because of a little bike team that recently raised $138,000 through the Courage Classic and a total of $775,000 in eight years.

I will never fight with my daughter. I will never tell her that her outfit is completely inappropriate. I will never braid her hair. Cheer a soccer goal. And alas, I will never smell the sweet scent of her darling baby head.

This asshole disease took that from me.

But you have let me dream again. You have let me be more. You have let us be more. And you have created hope. This is our life. We get one. Thank you for giving us hope.

You may say we are dreamers

But we’re not the only ones

Sunday, September 16, 2018

JOY! And mitochondrial awareness week :)

It is Mitochondrial Awareness Week.

Are you ready?

Are you ready for the onslaught of your friends posting about this crazy disease you have never heard of or maybe heard of in a bio class your sophomore but fell asleep to because it was so boring???

That is this week

We post because we have lost children, we have lost loves, we have lost futures, we have lost strength. We have cried, raged, cursed, begged, borrowed.......

But there is more to that.

We post because we are community. We are not alone. We have hope.

And without hope we are nothing.

Yesterday I went to a wedding of our Mito Mama Angela, her new husband and their mito warrior, Sweet Cal.
 
 
Cal and I approve of the union.
 
I was a lovely wedding but so much more than that.
 
This disease tears people apart. It ruins lives. It ruins families. It takes joy, stomps on it, spits a giant loogie and walks away.
 
Mitochondrial Disease is an asshole.
 
But we are more. We are so much more. We are hope. We are strength. We are community. We are loud.
 
 
 
And in spite of all the obstacles, there is still so much joy to be found
 
 
 
 
Ya'll make me proud.
 
And joyous.
 
Thank you. 

 

Friday, August 31, 2018

Joy


My Bestie Ginger took this photo of me after the Courage Classic.

I am lying on the asphalt because my legs were super-mad at me, I was tired, slightly delirious.

But I was something else.

So stinkin' joyful I could hardly talk.

Seriously.

There. Are. No. Words.

And I'll tell you why. I'll tell you what you all have done this year.

1. Supported a clinic that made us the recipient of a $50,000 NIH grant

2. Brought another major donor into our folds to the tune of $40,000

3. Made us a Mitochondrial Network of Care. The only center in the Rocky Mountain Region

4. Raised $138,000 during the Courage Classic for YOUR mitochondrial clinic in Colorado

5. And finally, your advocacy brought the attention of my amazing company who donated $750,000 to the mental health clinic at Children's Colorado

Ya'll are too much! Too much! How much amazing news can one woman contain?

I will tell you this.....I was about to explode that weekend from so much good.

That picture above, the result of a joy bomb.

Thank you, Thank you, Thank you.

So what happens now?

I'll tell you what happens, the rubber meets the road my friends!

1. Our NIH grant goes to study the CARS gene and supplementation of a certain amino acid- all for mito research

2. Our generous donor is funding a study of POLG1 and the efficacy of a drug currently used for MS- all for mito research

3. Our Network of Care enables us to approach the hospital with a need for social workers dedicated to mitochondrial disease, collaborate with other doctors and further support for  visits to the mitochondrial clinic

4. $138,000 will fund additional research, Ubiquinol supplementation, and keep our mito lab up and running

5. $750,000 will help those Littles in our community who are suffering.

I hope it will help them find joy.

You all bring me joy. You are better than a rainbow colored puppy riding on a Pegasus unicorn.

And that's pretty stinkin' good.





Wednesday, July 25, 2018

This Shark, Swallow you whole

 
 
This photo was from my 40th birthday- six months after we lost Samantha.
 
A friend quoted it perfectly, "And then Heather opened her mouth, took all of her friends and swallowed them whole."
 
And I would have.
 
Because I was so empty.
 
Oh yes dear friends, swallowed you whole. Anaconda ain't got none...
 
But that was 8 years ago. Eight years ago when Missy Moo left us. Eight years ago today.

I still pose with an open mouth


 
 
 
 

 
 
 
 
Even in the final photo.....in front of hundreds of people accepting a great big check...
 
Mouth
 
Wide
 
Open
 
Eight years later, would I still swallow you whole? Nah, I think you might be a tad chewy. Dare I say too spicy?
 
But more importantly, I don't need to anymore. The hunger to replace a famine in my soul has subsided, the want, desire, the miss, it is no longer so gut wrenching and desperate. Eight years later.
 
You all have helped me to fill that void and for that I am forever grateful.
 
So despite the perpetual open mouth, I no longer need to devour you.
 
Perhaps a nibble.



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