Raising Rare

We have all heard the inspiring stories of a family that suddenly faces the trauma of a rare diagnosis, become advocates for themselves or their child, finds a solution, and celebrate the triumph. This one is different.  Miguel Sancho and his wife Felicia Morton were that family. They became advocates and went on a wild medical adventure. And today, they can celebrate the trium...

When Raghav was born, he failed his newborn hearing test. From that moment on, Sanath and Ramya knew that his hearing was going to be an issue – they just did not know how big an issue it would be. After many tests, they learned he had auditory neuropathy. It seemed that his hearing was inconsistent; it was like the connection was loose. Sometimes he would react to sound and other t...

My way is just one of millions of ways in which you can approach a rare diagnosis, you can approach creating a treatment. No one I right, no one is wrong. This is diversity.   Sanath Ramesh  In Part 2 of our discussion with fellow podcaster and rare mom, Effie Parks, we compare and contrast the different approaches and styles that Sanath and Effie bring to the table for the rar...

Welcome to 2021 and our second season of Raising Rare.   We have a very special guest, fellow podcaster and rare Mom, Effie Parks. Effie is the host of the wildly popular Once Upon a Gene Podcast and creator of Once Upon a Gene TV . This is part 1 of a two-part interview. Effie’s son Ford has a rare mutation of the gene CTNNB-1. It affects the production of beta-catenin, which...

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 mo...

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, founde...

“Our goal is not to make money. Our goal is to help these kids!”    We continue our conversation with Terry Pirovolakis whose son Michael has spastic paraplegia (SPG50).  Last time we discussed the realities of raising a child with a rare disease that Terry and Sanath share. This time, we talk business.    Both these fathers are in desperate n...

“Unfortunately, the technology we have right now is not good enough for what we really want.  People will talk about what we are doing, ‘Is it 100%?’ No, it’s NOT. It’s about 5% of what we want. But if we do nothing, nothing is worse than what we're trying to do here.” Terry Pirovolakis, Rare Dad.  Sanath and Ramya have gained great strength from the communi...

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 P...

“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 th...

“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...

“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 Ramesh We continue our discussion with guest Amber Freed, Maxwell’s Mom and CEO of SLC6A1 Connect.  In Part 3 we begin talking...

“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 Freed 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 rol...

“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...

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 Ramesh 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...

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 paint...

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 an...

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...

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 Ramesh 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...

“This is a marathon. If we run a marathon like a sprint, we will be burnt out in the first mile.” Sanath 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. “Too many things came at the same time. Sanath and I could not have a c...

“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 Ramesh 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...

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 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, th...

“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...

“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 Ra...