Raising Rare

"I was not scared. I was thrilled to be working on a problem this important."

Sanath is determined to find treatments for Baby Raghav’s rare disease and he knows he can not do it alone. He needs experts. Professionals who will not only be able to think about ideas, they can test them too. But he has a problem.

How is he going to attract the serious attention of these scientists? Sure, they want to help a family in need, but they need more to convince them to really commit. Sanath knows very little about the biology of SSMD and he is afraid of looking dumb. He is more afraid that the scientists will turn him down. 

He hatches a plan to draw them into his problem. Listen week how Sanath creates and uses a simple Roadmap to learn more, build his confidence, and overcome his fears.  

Key Links:

Roadmap Chart: https://www.curegpx4.org/roadmap

Roadmap paper in Google Docs: https://docs.google.com/document/d/1v7TIArJsPEnnyf9oleMxhFdSCWK0RVK78K69o7bA82U/edit

Credits:

Sound Design and Music: Jacob Tomkins

Graphics: Ramya Ramswamy

“It’s exciting when we start an experimental therapy because we have all the hopes there. But it’s only time that can tell us what exactly will happen.”

Raising a child with a rare disease forces parents to do brand new things, to learn, and to grow personally. Sanath has built an elegant roadmap that guides the research plans for Raghav. But at some point, the rubber meets the road. 

In this episode, we discuss the heroic work that Sanath undertook to start a compassionate use study to look at whether an experimental drug could improve Raghav’s condition. 

He learned about the paperwork, ethics reviews, and time required to get such a study started. He found that not everything was in his control but that he could take charge of the things that are. 

Doing this work forced him to wrestle with his own emotions and grow stronger.

Hope. Action. Strength. Hope.

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.

Sound design and music by Jacob Tompkins

Graphis by Ramya Ramaswamy

“The name Raising Rare means a lot to me. It conveys exactly the journey we are on. It is very close to my heart and I wanted to do a logo. I wanted to show that there are three of us on this journey, the two of us and Raghav.”   Ramya (a.k.a. Raghav’s Mom)

Sanath is not in this fight alone. He has a wonderful partner, his wife Ramya. In this episode we get to hear Ramya’s story and how she is using her skills and strengths to generate awareness and resources. 

We get a glimpse into why they are such good partners – they look at the situation differently. Sanath sees the community as a source of knowledge and diverse perspectives. Ramya sees the community they are building as a family, a source of shared support. She turns to the SSMD and hypotonia communities for ideas and information about managing everyday challenges. 

Both Sanath and Ramya bring a relentless optimism and resilience to this fight. That spirit shines through in this discussion with the couple.  

“My thought process is shaped by the people I speak with” - Sanath

When we last talked to Sanath, he and Ramya had no idea what was going to happen next. They were heading into the unknown, and they felt very alone.

In this episode, we discuss how they got started attacking the problem and pulling together the resources they need to find a treatment and cure for Raghav. It is the kind of challenge that you cannot face by yourself. You need a community. You need to talk to people. You need to test your ideas and find your place in that community. The learning curve they faced was steep, if not vertical.

As we have seen, Sanath is a relentless learner. 

You will hear how we met and how he approached this steep climb ahead of him. 

His open-source mindset and his brash approach are positioning him to find early footholds on the shoulders of others who have gone before. But as with any climb, the journey is unique, and it doesn’t take long to find yourself at a new juncture. Do you take the route you have become comfortable with, or do you leap over to a path that few have taken before?

Learn more about cureGPX4

Learn More about Global Genes

Learn more about Salem Oaks

“…you can’t connect the dots looking forward; you can only connect them looking backward. So, you have to trust that the dots will somehow connect in your future.” – Steve Jobs

Sanath and Ramya met in grade school. Before they were married, they had all sorts of experiences that prepared them for the unexpected – a son with an ultra-rare developmental disorder. His name is Raghav. 

Raghav was born with a missense genetic variant of GPX4 resulting in a disorder known as Sedaghatian-type Spondyl Metaphyseal Dysplasia (SSMD). But Sanath and Ramya didn’t even know the exact diagnosis until Raghav’s first birthday. Even when they did know the cause, they still were without a clear picture of what would happen next.

In this episode, Sanath introduces us to his family and reflects on the stories of all the dots that they are connecting as they begin the search for a treatment.

A search that no one knows where it will take them or what dots they will experience. 

And they invite you to come along.  

We think you will find it remarkable.

“Our little boy Raghav is a happy kid with a contagious smile. Behind his smile is a very serious medical condition if left untreated can be fatal. But here’s the catch there is no treatment.”

Imagine the excitement of becoming a new parent and then within hours finding out your child has a serious developmental disorder. What would your reaction be? Where would you go for help? Who would you call?  There are no instructions for a young mother and father to get through the first night, let alone the lifetime of their child. Their life has been changed forever, just not in the way they expected it would.

On Raising Rare we are bringing you the story of a young father whose son has an ultra rare disorder known as Sedaghatian type Spondylometaphyseal Dysplasia, or SSMD. Each episode we will find out what is going on in the life of Sanath and his son Raghav.