Raising Rare

When we first met, Raghav was just one year old, and they had just gotten his diagnosis. That was 3 years and 50 episodes ago. Raghav is now 4 years old and Sanath has started a new non-profit organization called Open Treatments. In this episode we talk about both. The birthdays bring a lot of emotions. Each one is precious. At the same time, today’s technology brings back all the memories leading...

What a great way to introduce our “Comparing Notes” occasional series. Who knew talking about g-tubes could be so fun? The day you hear that your child has a rare disease your life changes. And the changes just keep coming. From dietary changes, to feeding tubes, to school, and even additional diagnoses. These lead to even bigger changes like moving from one state to another to find the right spec...

The impact of having a rare child can be overwhelming. Parents can find themselves in a dark place and defeated. We welcome back Brittany Ratke who found herself in that place and was struggling. Fortunately, she learned about a fantastic group called Angel Aid that provides support and teaches self-care skills for rare moms. Brittany decided to apply to the M.O.R.E. program and raise the funds to...

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 tha...

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 o...

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 S...

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...

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...

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...

For two years, we have shared the amazing story of Sanath, Ramya, and their baby son Raghav. They have started a non-profit, held a scientific conference, raised funds, started an experimental drug, and even commissioned research to screen over 4000 compounds for potential use. And they have learned how to manage Raghav’s daily routine. All that changed in August. It was a normal day, maybe even a...

We have been able to share some exciting news in the last two episodes. Sanath and cureGPX4.org commissioned a High-Throughput Screening assay to look for compounds that improve the growth of Raghav’s cells in culture. Then we heard the exciting news that the assay found 116 hits, 43 of which are already approved for other conditions. Sanath has pulled together a team of experts to help him sift t...

Since the moment they got the diagnosis of Sedeghatian-type spondylometaphyseal dysplasia (SSMD) , Sanath and Ramya have been on a relentless quest to find something to help their son Raghav. They have tried some off-the-counter supplements. They worked with a small biopharma to write an IND to get access to an experimental compound. And recently, their non-profit CureGPX4.org commissioned a high-...

Progress. All rare disease parents want to see progress in the search for a treatment for their child. In the past two years, Sanath has worked diligently to make that progress happen and it is beginning to pay off. When we started Raising Rare, our goal was to follow the story of baby Raghav and his parents Sanath and Ramya. A second goal was to help other rare parents learn from their journey. O...

"If all you do is take care of your child, you are doing it right." Daniel DeFabio In part 3 of our series with the founders of The Disorder Channel, Daniel DeFabio and Bo Bigelow, we learn how their partnership began and how it has grown. Their story is one that has several chapters. We talk about how every family affected by a rare disease has their own unique story but in some ways it is the sa...

This is part two of our 3-part series about a couple of rare disease Dads finding themselves doing things they never expected. The Disorder Film Festival and the Disorder Channel are two of the most powerful rare disease storytelling platforms on the planet. You might think that a few high-powered media moguls are behind it all. Not quite. Daniel DeFabio’s son Lucas was an injection of joy in thei...

We are starting a unique 3-part series about a couple of rare disease Dads finding themselves doing things they never expected.  The Disorder Film Festival and the Disorder Channel are two of the most powerful rare disease storytelling platforms on the planet.  You might think that a few high-powered media moguls are behind it all. Not quite. On today’s show, we are talking to Bo Bigelow...

A cough.  A sniffle. Telltale signs of the common cold. For little Raghav, his life was suddenly in danger.  In one of our most heartfelt episodes Sanath tells us about their very scary trip to the hospital when Raghav developed a serious and persistent cough.  For most of us and our kids, a common rhinovirus is annoying and may last a few days.  For Sanath and Ramya, the stake...

In Part 2 of our discussion with Terri and Billy Ellsworth we talk about the experience of being in a clinical trial for Duchenne Muscular Dystrophy.  We hear from Billy – his memories and his perspective.  It was a chance of a lifetime, but it was scary for 10-year-old.  Billy talks about bonding with the other boys in the trial.  We also talk to Billy about his interests and...

Recently we had the honor and joy of speaking with Terry and Billy Ellsworth, a mom and her son who has Duchenne muscular dystrophy or DMD as part of series on families that have made it to the other end of the tunnel.  They were on the front lines of research that has now brought hope to some boys with DMD, including Billy himself.  In this episode, we hear about the diagnostic odyssey...

The costs of raising a rare child are daunting. Last time, we talked about the medical costs. In part 2 of the conversation, we are going to go a little bit deeper.  We are going to discuss the impact on Sanath and Ramya’s lives, their mental health, and their relationships. In addition to the impact on their lives, Raghav’s condition takes away from their time at work and the...

Raising a child with a rare condition can be difficult and very costly.  The Everylife Foundation released a report in February 2021 that showed the overall economic burden of rare disease in the US is approaching ONE TRILLION DOLLARS every year . That is an attention-grabbing number. But what does it really mean? We explore this question through Raghav’s story. Talking about financ...

When Nicole Horvath was born, she had a terminal disease, and no one knew it. If they had known, they would have given her only 18 years to live.  When she was 20, she had to drop out of college because she was showing severe symptoms. This is when she finally got a diagnosis of cystic fibrosis (CF). At that time, all they good do was use physical therapy and nebulizer treatmen...

Sanath Kumar Ramesh – Rare Dad, Founder & CEO of Open Treatments, and Podcaster The quest for treatments for rare diseases is challenging under the best circumstances. For ultra-rare diseases like Raghav’s, the system is just not built to find and provide treatments for nine patients. There is no viable business model. There is no regulatory pathway for approval when it is impos...

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...

In Part 2 of our powerful interview with author Miguel Sancho and his wife Felicia Morton we talk about the myriad decisions that parents raising a child with a rare disease must make. Their son was born with a severe immunodeficiency known as chronic granulomatous disease (CGD).  The decisions range from the ones we cannot imagine having to make to the common decisions we all make. Reno...