Raising Rare

“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.

“…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 JobsSanath 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.

“My thought process is shaped by the people I speak with” - SanathWhen 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 cureGPX4Learn More about Global GenesLearn more about Salem Oaks

“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.  

“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 TompkinsGraphis by Ramya Ramaswamy

"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/roadmapRoadmap paper in Google Docs: https://docs.google.com/document/d/1v7TIArJsPEnnyf9oleMxhFdSCWK0RVK78K69o7bA82U/edit Credits:Sound Design and Music: Jacob Tomkins Graphics: Ramya Ramswamy

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

“I don’t like the word ‘scientific board.’ I like to use the word team which means everyone is actively involved to solve the problem. They are motivated to solve it and they have one focus, in this case finding a cure for this kid.”  Sanath RameshSanath 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.

“This is a marathon. If we run a marathon like a sprint, we will be burnt out in the first mile.” SanathWhen 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.“Too many things came at the same time. Sanath and I could not have a conversation about anything. We would talk two lines and then my mental capacity would be full. I can’t hear anymore. I am not able to process this.” RamyaIn this episode, we discuss some of their biggest fears and a few dreams they have for Raghav.Music and Sound Design by Jacob TompkinsGraphics by Ramya Ramaswamy

I am all-in for science. I actually get really excited when we discuss all the nerdy science details, but at the end of the day we want therapies and if this group cannot produce therapies, then we have failed in our responsibility. - Sanath RameshWe 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 info@raisingrare.fm to sponsor the podcast.

Parents cannot focus 100% on the child as well as make progress toward a treatment. It’s just not humanly possible. 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 TompkinsGraphic Design: Ramya Ramaswamy

All parents need to make decisions for their babies, but not all parents need to make the excruciatingly difficult decisions that Sanath and Ramya do.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. 

He is using everything he can to communicate. I that it is one of his strongest skills at this point. -Sanath Ramesh. 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 sponsorship@raisingrare.fm If you would like to personally donate, please visit https://cureGPX4.org/donate Music: Jacob Tompkins (losstudiosnc@gmail.com)Graphic Design: Ramya Ramaswamy (ramya@curegpx4.org)

It’s one thing to be transactional when we say thank you. It’s another thing to say thank you for life. All we can hope to do is return the favor for them when they need help.  Sanath RameshWe 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 TompkinsGraphics: Ramya Ramswamy

“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/

“We are in a really lonely, isolating place and none of want to be here. We are all grieving differently. I have the utmost compassion for each one of us.”  Amber FreedWe 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

“The stress comes from all directions. There is emotional stress. The stress that comes from other people we work with that don’t get things done. And then there is the self-inflicted stress of OMG, I need to do this.  And if I don’t…”  Sanath RameshWe continue our discussion with guest Amber Freed, Maxwell’s Mom and CEO of SLC6A1 Connect.  In Part 3 we begin talking about the research strategies they are employing. But our conversation takes an unexpected turn. Sanath and Amber discuss the struggles of balancing the demands of finding treatments for their sons with the desire to spend as much time as possible enjoying their boys. The lives they are living are extremely stressful and there does not appear to be a way out of this. They each take their own approaches to this impossible choice. Donations can be made for SLC6A1 research at MilestonesforMaxwell.org Donations for GPX4 research can be made at cureGPX4.org

“It was really painful to wait for this medicine to come. But I also believe that when it was the right time, it will definitely happen. And whatever happens is for good.” Ramesh – Baby Raghav’s grandfather. Way back in episode 004, we heard Sanath talk about how hard it was to write the IND for compassionate use of an investigational drug. Having to express the possibility that his son may die without this intervention was one of the hardest things he has ever done. But he had to do it.In this very special episode, we get an update on the IND and how far they have come with this experimental drug. We hear about the wait for word from the FDA and all the steps necessary to allow Raghav to get this treatment.  This wait was made even longer by COVID-19.  As you may have figured out by now, Ramya and Sanath handle good news and bad news differently. As a special treat, we hear from Sanath’s father, Ramesh. Raghav’s very supportive grandparents have been living through this journey too. They have a slightly different perspective that highlights how a rare disorder affects multiple generations.  Our discussion feels like a very big hill on a roller coaster. It’s not the only hill they will face, but it is one of the larger ones. This is one of our longer episodes, but we think you will find it worth your time.Please Donate to cureGPX4 Thank You!Sound Design and Music: Jacob TompkinsGraphic Design: Ramy Ramaswamy

“Because I look at every single day as a success. If I can have one happy day where Raghav is happy, my family is happy, and I am happy I think I have done something right today.” Sanath Kumar Ramesh  On Friday, September 18, Sanath and Kevin had the honor and joy of co-hosting the Rare Together, Watch Together: Film Selections from the Disorder Channel as part of the Global Genes Live (un(Summit) This was the third night of the mini-film festival and the theme was More than a Quest – Success.    We watched three films and talked to the Moms of the children featured in each. Brick in the Wall was the story of Joshua Frase and his family’s extraordinary efforts to find treatments and cures for Myotubular Myopathy (MTM). The story features their quest to establish a large animal model for the disease.   https://www.joshuafrase.org/  Every Second Counts is the story of Hannah Somes who has Giant Axonal Neuropathy (GAN) which has changed her life drastically. However, it has not dampened her spirit as she shares her dreams with us.   https://www.hannahshopefund.org/  Life & Atrophy lets us peek into the world of Miles McIntosh. Miles has Spinal Muscular Atrophy (SMA) and his parents needed to decide whether to enroll him in a clinical trial.   https://raremamas.com/  Obviously, these stories are emotional, inspiring, and thought-provoking.  You can see them on The Disorder Channel on Amazon Fire or ROKU.   https://www.thedisordercollection.com/   In this episode of Raising Rare, we debrief our experience behind the scenes as we got to know these families. We hope you can feel our excitement and join in our reflection.   Please consider donating to their causes.

One of our goals for Raising Rare is to introduce some of the scientists who are working on finding treatments for Raghav. Another goal is to educate our listeners about finding and developing treatments. In this episode Sanath and I spend some time with Dr Ethan Perlstein talking about various animal models that can be used to screen for active drugs. Dr. Perlstein is the CEO of Perlara, a Public Benefit Corporation that is dedicated to helping families seek treatments for rare genetic diseases. He is also one of the original members of the cureGPX4 Scientific Team. One of the key strategies cureGPX4 is using is called drug repurposing. The animal models are one way to screen existing approved drugs to see if they may have a beneficial effect. However, it is not as easy as it sounds.  Developing these animal models requires time and money. Selecting which model to invest limited funds in first is an extremely important decision. Dr. Perlstein shares his thoughts on how to approach it.We hope you enjoy one of our more scientifically focused episodes. 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.NOTE: We are continuing our discussion with Ethan Perlstein on the Improbable Developments podcast. There we will talk about his career and what drew him towards his work with animal models. Sound Design and Music: Jacob Tompkins losstudiosnc@gmail.comGraphics: Ramya Ramaswamy ramya@cureGPX4.org