Finding Hope From Diagnosis to Action - LMNA Related Congenital Muscular Dystrophy - Hannah Lowe

Once Upon A Gene

English - November 11, 2021 12:00 - 31 minutes - ★★★★★ - 258 ratings
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ONCE UPON A GENE - EPISODE 108
Finding Hope: From Diagnosis to Action - LMNA Related Congenital Muscular Dystrophy - Hannah Lowe

Hannah Lowe is the President and Co-Founder of the L-CMD Research Foundation. Her son Austin has a rare form of muscular dystrophy (L-CMD) caused by a genetic mutation and she's urgently working to find a cure for her son and other kids like him.

EPISODE HIGHLIGHTS

Can you tell us about your children?
I have two sons— Ean who is four and Austin who is two. Last year, Austin was diagnosed with a rare disease resulting from a randomly occurring genetic mutation. He was about 6 months old when he was diagnosed. Austin wasn't gaining weight, so after 6 months he was admitted to the hospital to get a feeding tube to aid in nutrition. He was in the hospital for three weeks while they ran a series of tests to find the underlying cause of his low weight. Every test came back clear until the genetic tests came back. That's when it was discovered that Austin has a single point mutation on the LMNA gene which results in L-CMD, which is a rare form of muscular dystrophy.

What did you do after you got Austin's diagnosis?
After getting a new routine worked out, we turned our attention to figuring out what we can do. We started making connections, talking to everyone and gathering information. L-CMD has a fair amount of research happening for the gene itself because genetic mutations of the gene cause about 12 other diseases. Through networking, we connected with a group of other rare disease families working on treatments and cures for their own rare diseases. With some helpful connections, we took baby steps to start a nonprofit.

What roadblocks have you hit and what would you do differently?
The biggest roadblock is expectation versus reality. When we first started, researchers told us the pace of research is slower than the progression of the disease. We didn't accept that, but it has been a big mindset shift to know this is in fact the case.

CONNECT WITH THE L-CMD RESEARCH FOUNDATION
L-CMD Research Foundation Website
https://www.lcmdresearch.org/
L-CMD Research Foundation on Instagram
https://www.instagram.com/lcmd.foundation/
L-CMD Research Foundation on Facebook
https://www.facebook.com/LCMD.foundation
L-CMD Research Foundation on Twitter
https://twitter.com/foundationlcmd

RESOURCES AND LINKS MENTIONED
Discord Chat
https://discord.com/invite/7UFUPAFs8K
ONCE UPON A GENE - Episode 104 - A Rare Collection- Stories of Courage with Felix Townsin, Erica Jolene Stearns, Mahrynn McLaughlin and Brianna Colquitt
https://effieparks.com/podcast/episode-104-rare-collection-courage
Givebutter
https://givebutter.com/

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CONNECT WITH EFFIE PARKS
Website
https://effieparks.com/
Twitter
https://twitter.com/OnceUponAGene
Instagram
https://www.instagram.com/onceuponagene.podcast/?hl=en
Built Ford Tough Facebook Group
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ONCE UPON A GENE - EPISODE 108

Finding Hope: From Diagnosis to Action - LMNA Related Congenital Muscular Dystrophy - Hannah Lowe

EPISODE HIGHLIGHTS

Can you tell us about your children?

I have two sons— Ean who is four and Austin who is two. Last year, Austin was diagnosed with a rare disease resulting from a randomly occurring genetic mutation. He was about 6 months old when he was diagnosed. Austin wasn't gaining weight, so after 6 months he was admitted to the hospital to get a feeding tube to aid in nutrition. He was in the hospital for three weeks while they ran a series of tests to find the underlying cause of his low weight. Every test came back clear until the genetic tests came back. That's when it was discovered that Austin has a single point mutation on the LMNA gene which results in L-CMD, which is a rare form of muscular dystrophy.

What did you do after you got Austin's diagnosis?

After getting a new routine worked out, we turned our attention to figuring out what we can do. We started making connections, talking to everyone and gathering information. L-CMD has a fair amount of research happening for the gene itself because genetic mutations of the gene cause about 12 other diseases. Through networking, we connected with a group of other rare disease families working on treatments and cures for their own rare diseases. With some helpful connections, we took baby steps to start a nonprofit.

What roadblocks have you hit and what would you do differently?

The biggest roadblock is expectation versus reality. When we first started, researchers told us the pace of research is slower than the progression of the disease. We didn't accept that, but it has been a big mindset shift to know this is in fact the case.

CONNECT WITH THE L-CMD RESEARCH FOUNDATION

L-CMD Research Foundation Website

https://www.lcmdresearch.org/

L-CMD Research Foundation on Instagram

https://www.instagram.com/lcmd.foundation/

L-CMD Research Foundation on Facebook

https://www.facebook.com/LCMD.foundation

L-CMD Research Foundation on Twitter

https://twitter.com/foundationlcmd

RESOURCES AND LINKS MENTIONED

Discord Chat

https://discord.com/invite/7UFUPAFs8K