Episode 21

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Published on:

21st Nov 2020

Rare Mamas Part 1: Nikki McIntosh and Ramya On Choosing Hope

I am so happy. I feel like that is exactly what I want to convey through my son's life, through our family, through Rare Mamas is that hope. Because you know, so many of us that receive a rare diagnosis for our children we are given these scariest statistics, we are given those unimaginable possibilities. 
Nikki McIntosh, founder of Rare Mamas. 

On Raising Rare we promise to talk about all the aspects of raising a child with a rare disease. In this episode we listen in on a heart-to-heart discussion between two mothers who are on this journey.  You can almost smell the tea brewing as they talk about reaching those difficult forks in the emotional road.   

Nikki is a mother whose son’s condition, Spinal Muscular Atrophy (SMA), was treated with Spinraza (nusinersen) before it was approved. In fact, it was in clinical trials. Her son is doing well and regaining some strength.  In light of her own experience, Nikki has started RareMamas.com in an effort to help other mothers who have recently received a rare diagnosis for their child.  Rare Mamas will be a safe place for new mamas to go to share their stories, share their worries, and get the support they so desperately need.  

Next time, we will finish our discussion with Nikki McIntosh. 

 PLEASE DONATE to support research about GPX4  

 Sound Design: Jacob Tompkins  losstudiosnc@gmail.com 

Graphics: Ramya Ramaswamy ramya@cureGPX4.org 

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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.
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About your hosts

Sanath Kumar Ramesh

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Kevin Freiert

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