Episode 22

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Published on:

5th Dec 2020

Rare Mamas Part 2: Nikki McIntosh Moving from Distress to Prowess

I just remember the feelings at the beginning. When my son was newly diagnosed, it was so overwhelming. It was frightening. I didn't know where to start. And I felt really alone… So Rare Mamas is my way of helping mothers, whose children are newly diagnosed with a rare disease disorder condition. I want to encourage them, uplift them, and empower them. Nikki McIntosh

 Nikki is a mother whose son’s condition, Spinal Muscular Atrophy (SMA), was treated with Spinraza (nusinersen) in clinical trials before it was approved. 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.

In this episode, she and Ramya discuss Nikki’s effort to support mothers whose children have been diagnosed with a rare disease. Her new venture seeks to provide practical resources that can help rare disease mothers through the fight of their lives. She offers advice on how to plan for self-care, how to choose a mindset, and how even how to arrange a date night during COVID.  She helps mamas find the fighter within themselves.  

You can find her at https://raremamas.com/ or e-mail her at nikki@raremamas.com

 

PROGRAMMING NOTE:

We will be taking a break over the Holidays. 

We will be back in January to continue sharing Raghav’s story.

 

PLEASE DONATE to support research about GPX4

 

Sound Design: Jacob Tompkins losstudiosnc@gmail.com

Graphics: Ramya Ramaswamy ramya@cureGPX4.org

 

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.
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About your hosts

Sanath Kumar Ramesh

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Kevin Freiert

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