Raising Rare

We continue our discussion with guest Amber Freed, Maxwell’s Mom and CEO of SLC6A1 Connect. Sanath and Amber have both found themselves as leaders in their particular disease communities.  This is not a role they wanted to take on, they never competed for membership in this club. 

Their life experiences have prepared them to take a step forward and accept the responsibility leadership brings. We talk about the various challenges they face and how they each have their own way of leading through them. 

We also discuss what they have learned from each other and others in the broader rare disease community. 

Donations can be made for SLC6A1 research at MilestonesforMaxwell.org 

Donations for GPX4 research can be made at cureGPX4.org

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/

We have discussed the importance of community to families raising a child with a rare disease before. In Episode 12, Sanath says, “Thank You” to three different communities who are crucial for Sanath and Ramya’s efforts to find a cure for Raghav.  These communities start with some of their closest friends, expand out to other rare disease parents, and then even farther to even more families.  Sanath shares some wonderful examples of how these people have made real differences in their lives.  

Sound Design and Music: Jacob Tompkins

Graphics: Ramya Ramswamy

Raising a child with a rare disease means that everything is just a little bit harder. There are no simple trips to the doctor. Any trip in the car requires lifting this growing boy into his seat, and he cannot even help. 

In this episode Sanath paints a vivid picture of what this means for Ramya and him. He also reports that Raghav is developing communication skills. Given his condition, this means that his family needs to learn what he is trying to tell them. We hope you enjoy hearing about this very important aspect of their life.

Raising Rare needs your support. 

If your company is interested, please contact us at [email protected] 

If you would like to personally donate, please visit https://cureGPX4.org/donate 

Music: Jacob Tompkins ([email protected])

Graphic Design: Ramya Ramaswamy ([email protected])

In this special short episode, we hear a story about one of those decisions. They were faced with the choice of having Raghav in extreme pain or putting him through what seems like an extreme surgical procedure.  We are sharing the anguish such a decision can bring. We caution you; this might be disturbing. 

In this short episode, we talk to Sanath and Ramya about the importance of relationships. We talk about their relationship with each other, Raghav’s grandparents, and some close friends. When faced with the challenges a child with a rare disease brings, they have found that these relationships are essential to get them through. And we also explore how the common goal of finding a treatment for Raghav has impacted those relationships.  

Sound Design and Music: Jacob Tompkins

Graphic Design: Ramya Ramaswamy

We have previously shared the behind the scenes look at how Sanath and Ramya very rapidly adopted a virtual conference format due to the COVID outbreak.  

It turned out that this change served to enhance both the attendance and the effectiveness of the conference. It was a milestone in the search for a treatment and cure for baby Raghav. In this episode, we turn back to the conference to talk about the content and outcomes from that day.  

The importance and power of bringing experts in different fields together to focus on one problem just cannot be overstated.  

Please donate to cureGPX4.org or contact us at [email protected] to sponsor the podcast.

When Sanath and Ramya learned of Raghav’s diagnosis, life became very busy. They found ways to organize and focus on their work to find a treatment and on their careers. They learned how to manage the stress.

In this episode, we discuss some of their biggest fears and a few dreams they have for Raghav.

Music and Sound Design by Jacob Tompkins

Graphics by Ramya Ramaswamy

Sanath has successfully used what he learned from his Roadmap to identify a relatively large group of experts who may be able to help find a treatment for Raghav . But that is all they are – a group. They needed a team.

To get things started, Sanath and Ramya decide to host a scientific conference focused on GPX4. This will give the scientists a chance to meet each other, let Sanath set some expectations, and begin to build a team. It was a great plan. 

The conference was scheduled for March 19 and all the arrangements were coming together. This was a critical milestone in their journey.

On March 13, COVID began closing down the country. In fact, it had already hit Seattle especially hard. 

What would you do? Listen to this episode and hear how they responded.  

Special thanks to Jacob Tompkins for our music and sound editing; and Ramy Ramaswamy for our graphics.

You can listen to Raising Rare directly or subscribe on iTunes, Spotify, Google Podcasts, YouTube, Facebook and more. You can follow us on twitter @Raising_Rare.

In this special COVID-19 episode, Sanath and Ramya talk about the unprecedented challenges they are facing in the constantly evolving pandemic situation. They discuss their fears as the research and potential trial medication comes to a grinding halt in the in the wake of the COVID-19.

This video can be seen on Youtube