Raising Rare

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.

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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.

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 better morning than most. Raghav was taking a nap when they noticed something was wrong.

Something was very wrong.

Raghav was turning blue.

And real fear entered their lives for the first time. This fear has changed their perspective and once again shifted their priorities.

We have now completed our second season of Raising Rare. Given the changes in Raghav’s condition and in the life of Sanath and Ramya, we are going to take a break until January.

Please send us feedback about what you want to hear on Raising Rare to [email protected]

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 through this list of compounds and develop a plan for systematically assessing the various properties of these compounds. This is where the hard work begins. Approved medicines will have loads of data describing these properties. But there is much less data publicly available for investigational compounds.

Either way, the decision about what to try next is not going to be easy

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-throughput study (HTS) of roughly 4000 compounds.

In this episode, we hear the results from that study.

The whole theory behind HTS is 'shots on goal'. The more shots you take, the more likely one of them will score. In the biopharma industry, HTS is done at an industrial scale with literally millions of shots on goal. Because SSMD is so rare, they have no idea what to expect from this relatively small sample. This is groundbreaking work.

And no matter what the results show, the work continues. Decisions will need to be made about what to try next. This is the episode you have been waiting for.

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. One part of this journey is the process of scientific research.

Two years ago, Sanath had no exposure to this process and even had to look up the definition of a gene. In this episode, he sounds like a seasoned researcher. He takes us from where they started, hoping to repurpose an existing drug, through the first few treatments they tried, and finally to the program they have established to look at the potential of thousands of medicines. It is a high-throughput screening program that will help them determine whether any of these medicines will help Raghav’s cells grow.

We even discuss how artificial intelligence is transforming the way that these types of experiments can be run.

Oh, how far he has come.

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 same story.

When both Daniel and Bo found out their children had a rare disease, they followed the same path many familes do. FIght for the child, learn to advocate on their behalf, and then finding a new unexpected life. For these two Dads, they followed thier skills, and passions to create two mainstays of the rare disease world, Disorder - The Rare Disease FIlm Festival and The Disorder Channel on ROKU and amazon Fire

However, they were quick to point out that not everyone can or should take their advocacy to such lengths. Some people are comfortable telling their story publicly. Others are more comfotable fundraising. Others lend a hand where possible, And still others just need to pay attention to the kid right in front of them. ALL of these are OK. The point is that being thrown into this situation will help you clearly discover what you were meant to do.

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 their lives. No matter what the circumstances, Lucas would laugh and remind them not to sweat the small stuff. As Daniel says, “It feels like… [he is] clued into a better way of existing.”

Lucas had a copper transport disorder known as Menke’s Disease. Because of Menke’s disease, his hair was kinky and brittle, he was non-verbal, and his life expectancy was only 3-10 years old. He beat the odds and lived until he was 11 and a half. Sadly, he passed away in May of 2020 in the midst of the COVID pandemic.

Daniel focuses on the quality of the time he had with Lucas, not the length of his life. He even finds a silver lining in the quality time he was able to spend with Lucas because of COVID. His generous, gentle, and optimistic approach to having a son with a rare disorder is very inspiring and comforting.

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 whose daughter Tess has Hao-Fountain Syndrome.   The thing is, there was no such thing as Hao-Fountain Syndrome a decade ago.  All they knew was that their sweet daughter seemed to be falling behind. Something was wrong. 

As Bo transitioned from commuting 4 hours a day to a work-from-home Dad, he began to see Tess’s struggles firsthand.  This began a search for what was going on.  They were unable to get a correct diagnosis based simply on symptoms. They had her genome mapped and were finally able to name the mutation that was causing her problems, USP7.  No disease name.  No course of treatment. No new prognosis.  Just USP7.

Using that tiny bit of information, Bo sent a signal to the world looking for help.  You’ll need to listen to the show to hear what he did and where it led.

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 stakes are so much higher.  They found themselves in the PICU for more than a week.  The toll this takes on them is immense.  Sanath opens up and shares how this burden is weighing on their mental health.