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
 

1 comment:

santagurin said...

For people with COPD, asthma, Congestive Heart Failure (CHF) and other conditions, pulse oximetry is a technology used to measure the oxygen level in your blood and your heart rate. A finger pulse oximeter is equipped with technology to rapidly detect changes in your blood oxygen level.

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