Episode 13

full
Published on:

1st Aug 2020

No Search Results. A Fellow Traveler’s Relentless Pursuit of a Cure (Part 1)

“I was frustrated… why can’t I get any answers? So, I just took out my phone and googled [SLC6A1], hoping to jump over the doctors, and NO SEARCH RESULTS FOUND.” 
Amber Freed, Mom and CEO of Milestones for Maxwell.

On this episode of Raising Rare, we bring in a guest from the Rare Disease Community. Amber Freed has been recognized as one of the most driven parent advocates in the country. After finally making a very disturbing diagnosis, the doctors said, “We don’t know what it means. We are hoping you will become the expert.” Imagine how hard that would hit you. Not many people would respond as Amber did.

We invited Amber to speak because she and Sanath are kindred spirits, helping each other along the journey. They each bring different skills, mindsets, and experiences to the table and they recognize how they can be stronger together. We think you will find Part 1 of our discussion with Amber very interesting.  

https://slc6a1connect.org/milestones-for-maxwell/


Show artwork for Raising Rare

About the Podcast

Raising Rare
Imagine the excitement of becoming a new parent and then within hours finding out your child has a serious developmental disorder.

That is exactly where Sanath Kumar Ramesh found himself in the summer of 2018. One year later, on his son’s first birthday, they found out that their son, Raghav, had an extremely rare mutation of the GPX4 gene. At the time, doctors told them that Raghav may be the only one on the planet with this genetic variant who had lived beyond one month of life. The prognosis is completely unknown.

They were alone.

They were scared.

And then they went into action.

And now they want to share their story.

Every couple of weeks Raising Rare will give you an update on baby Raghav as he grows up. We will also share how Sanath and his wife Ramya are driving toward a treatment for their son. We will explore the science that Sanath is initiating, their efforts to fund that research, and the people they meet along the way. We will also hear how the family adjusts to challenges and changes that they are faced with. Most importantly, we will share the wisdom they gain along the way so that other Rare Parents can learn from their steps and missteps.

We don’t know where this story will go. We do know we want you to join us for the journey.
Donate to Cure SSMD

About your hosts

Sanath Kumar Ramesh

Profile picture for Sanath Kumar Ramesh

Kevin Freiert

Profile picture for Kevin Freiert