52 episodes

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.

Raising Rare Raising Rare

    • Health & Fitness
    • 5.0 • 3 Ratings

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.

    Season 3 Premier - Surprising Progress During Our Break

    Season 3 Premier - Surprising Progress During Our Break

    As we launch Season 3, we learn about some exciting new developments for Raghav over the past few months. Some huge milestones were met while we were on our hiatus. You will need to listen – no spoilers here.
    We also looked back at Raising Rare in 2021. The beauty of reflecting on our last season is that we realize how much happened and how quickly Raghav’s situation can change. More than that, we can remember the important lessons we learned from our guests, our discussions, and the twists and turns of life. We continue to try to help our listeners find hope through the podcast.
    We are very excited to be starting our third season and look forward to exploring new topics in 2022 that are important to the Rare Disease community.

    • 26 min
    Surprising Repurposing of an Asthma Drug

    Surprising Repurposing of an Asthma Drug

    Last year, Sanath started a huge undertaking to sift through more than 4000 existing drugs to find any that might help Raghav. This high-throughput screen looked at all sorts of medications with the hope that one or more would show unexpected activity in Raghav’s very cells.
    And they found one.
    It was an approved and marketed drug, which meant it was possible to obtain.
    But you cannot just go grab prescription only drugs from your corner pharmacy for anything you want. The drug is designed to treat the inflammation associated with asthma – not exactly Raghav’s situation. And in this case, Raghav could not take the tablet form or the dose that is generally available – additional specialized pharmacy work had to be done. All of this is costly, and they were not sure if insurance would pay any part of the bill.
    In this episode we talk about how Sanath and Ramya approached each of these hurdles.
    Salem Oaks uses https://riverside.fm/?utm_campaign=campaign_1andutm_medium=affiliateandutm_source=rewardfulandvia=kevin-freiert (riverside.fm) to create Raising Rare.
    (c) Salem Oaks 2022

    • 30 min
    Ask Me Anything

    Ask Me Anything

    Have you ever been listening to a podcast and wish you could suggest a question for the interviewer to ask? You know there is something else you want to know but the conversation just seems to miss it.
    We have and we wanted to try something new to address the issue. Recently, Sanath put out a request to ask him anything with the promise we would answer as many as we could on our show. It was a bit scary, not knowing what we might have signed up for. But a commitment is a commitment.
    In this episode Sanath address a few of those questions.
    How to give it your all to help your child with an ultra-rare condition when you don’t know where to start?
    Any treatment for kids with Sanfilippo Syndrome? Can I get access to clinical trials? https://curesanfilippofoundation.org/what-is-sanfilippo/ (https://curesanfilippofoundation.org/what-is-sanfilippo/)
    Parenting I so hard but parenting a rare disease child is even harder. What can the community do to help? How do you manage emotional and mental toll that comes with raising a rare disease child?

    These questions gave us a chance to talk about other important issues like risk, access, and the inherent issue of our healthcare and support systems.
    If you like the “Ask Me Anything” format, watch for future requests for questions.

    • 26 min
    Everleigh: SETD5 Clouds Our Rainbow and Sunshine Baby

    Everleigh: SETD5 Clouds Our Rainbow and Sunshine Baby

    Everleigh was the answer to Brittany and Chris’s dreams, their sunshine and rainbow baby after years of trying to become parents. Clouds started forming before Everleigh was even born. Because early ultrasounds showed that she had some signs usually associated with Down’s Syndrome, they decided against further pre-natal testing. When Everleigh was born, it turned out that she did not have Down’s Syndrome after all.
    However, after two or three weeks, Brittany was not feeding well. In fact, she was unable to retain anything. She was not growing, and in fact she was losing weight.
    Thus began a nearly 4-year diagnostic journey. Fortunately, they live close to the Mayo Clinic and were able to get care from some extraordinary professionals. It turns out that Everleigh has a unique variant of SETD5, a gene that controls several other genes. Please listen to how this diagnosis has helped Brittany connect with other parents and the ups and downs of being part of such a small community.
    Spoiler alert: We will be getting to know Brittany and Everleigh better in future episodes.

    • 31 min
    Mike Hu – Two Boys. One Diagnosis. We can do better.

    Mike Hu – Two Boys. One Diagnosis. We can do better.

    In the first part of our discussion with Mike Hu, we hear the story of his two sons with Mucopolysaccharidosis Type 2, or MPS2. MPS2 is also known as Hunter’s Syndrome. I first connected with Mike during a Rare Disease Week session in which he talked about a truly visionary project. We often speak with parents who find themselves thrown into this world of rare disease absolutely cold with little or no training or experience in the world of genetics, biology, and scientific endeavor. This is certainly NOT the case for Mike.
    MPS2 leads to a wide variety of symptoms and issues. Mike’s are a few years apart, but they were diagnosed at about the same time. Because of this, Hunter’s Syndrome has affected them differently. Fortunately, there is a therapy available, and they were able to start it right away. They also were able to enter a clinical trial to test an intrathecal formulation.


    Their responses to that therapy and the typical delay in diagnosis they experienced for the older boy has led Mike to turn his professional skills to transforming newborn screening – but we will hear more about that next time.

    • 20 min
    All Newborns. All Rare Diseases. Project GUARDIAN.

    All Newborns. All Rare Diseases. Project GUARDIAN.

    Just imagine a world where every single newborn is screened for all known genetic diseases.
    In part 2 of our discussion with genomic scientist and rare dad Mike Hu, we discuss Project GUARDIAN, his effort to provide Genomic Uniform Assessment of Rare Disease In All Newborns. This visionary project could help reduce the emotional, physical, and developmental pain for millions of people.
    We know that newborn screening is one of the most powerful means of identifying children who will need special care early so that care can begin right away. But fewer than 100 diseases are currently included in the most advance newborn screening panels. There are more than 7000 rare diseases. In the past 15 years, only 7 diseases have been added to approved list. At this rate, using the current technology, it will take centuries to have a complete panel approved.
    There has to be a better way. Mike has an idea for how to approach the problem differently. In this episode he talks about the underlying issues with the current protein-based tests, the challenges of changing to a new technology, and the enormous benefits individuals, families, and society at large would gain.
    mike@project-guardian.org

    • 34 min

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