Raising Rare

 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 rare disease community. As we have learned, Sanath likes to solve problems.  Effie brings a different strength – positive energy.

We discuss how life has prepared each of us for what we are doing today. We learn a little about the vastly different childhoods that Effie and Sanath had.  Each has uniquely shaped them to contribute their part to the larger rare community. 

The insight is that together we are stronger.   All our varied contributions serve to inspire others to keep going. 

Once Upon a Gene Podcast,  Once Upon a Gene TV

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 is important for the regulation of cell-cell adhesion and for gene transcription. The effects are slow developmental progress and motor issues, including dystonia.

We hear about Ford’s superpower and the amazing ways his condition has shaped Effie’s life. Her unstoppable optimism and cheerful personality are perfect for the role she has found herself playing. We also talk about the strain that having a child with a rare condition can put on friendships.

Surprisingly, both Sanath and Effie feel that podcasting has helped open a line of communication that might be awkward in person. Friends can learn about the condition and hear how the kids are doing without the need to say the right thing in response. This allows them to reach out to friends and just hang out. 

In part two, we will continue our round-table discussion. Tune in next time.

Graphics: Ramya Ramaswamy [email protected]

Sound: Jacob Tompkins ([email protected])

 Nikki is a mother whose son’s condition, Spinal Muscular Atrophy (SMA), was treated with Spinraza (nusinersen) in clinical trials before it was approved. Her son is doing well and regaining some strength. In light of her own experience, Nikki has started RareMamas.com in an effort to help other mothers who have recently received a rare diagnosis for their child. Rare Mamas will be a safe place for new mamas to go to share their stories, share their worries, and get the support they so desperately need.

In this episode, she and Ramya discuss Nikki’s effort to support mothers whose children have been diagnosed with a rare disease. Her new venture seeks to provide practical resources that can help rare disease mothers through the fight of their lives. She offers advice on how to plan for self-care, how to choose a mindset, and how even how to arrange a date night during COVID.  She helps mamas find the fighter within themselves.  

You can find her at https://raremamas.com/ or e-mail her at [email protected]

PROGRAMMING NOTE:

We will be taking a break over the Holidays. 

We will be back in January to continue sharing Raghav’s story.

PLEASE DONATE to support research about GPX4

Sound Design: Jacob Tompkins [email protected]

Graphics: Ramya Ramaswamy [email protected]

On Raising Rare we promise to talk about all the aspects of raising a child with a rare disease. In this episode we listen in on a heart-to-heart discussion between two mothers who are on this journey.  You can almost smell the tea brewing as they talk about reaching those difficult forks in the emotional road.   

Nikki is a mother whose son’s condition, Spinal Muscular Atrophy (SMA), was treated with Spinraza (nusinersen) before it was approved. In fact, it was in clinical trials. Her son is doing well and regaining some strength.  In light of her own experience, Nikki has started RareMamas.com in an effort to help other mothers who have recently received a rare diagnosis for their child.  Rare Mamas will be a safe place for new mamas to go to share their stories, share their worries, and get the support they so desperately need.  

Next time, we will finish our discussion with Nikki McIntosh. 

 PLEASE DONATE to support research about GPX4  

 Sound Design: Jacob Tompkins  [email protected] 

Graphics: Ramya Ramaswamy [email protected] 

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 need of millions of dollars to fund the research to find a cure or treatment for their sons. Terry has had an amazing fundraising journey.  His initial optimism that a few companies would make big contribution was short-lived.  What he found was that his own neighborhood near Toronto would be the start of a local movement to help him out. This very humbling start has helped him see the good in people. 

Recently, Terry biked 400 km from Toronto to Ottawa, the capital of Canada.  While in Ottawa, he had the opportunity to meet with and influence the Prime Minister of Canada, Justin Trudeau.   This fundraising effort and his own career in IT have shaped some tremendous ideas for a new model for finding treatments.   

Terry was a joy to speak with. His energy, optimism, and clear-thinking are very refreshing.  We hope you will agree.  

You can support Terry’s effort at https://cureSPG50.org 

Sanath and Ramya have gained great strength from the community of Rare parents. On this episode, we talk to Terry Pirovolakis, another father who is looking for a cure and treatment for his son Michael’s condition.  They have found ways to work with each other and with other families. They are growing a community from scratch. 

We talk about the benefits that such a grass-roots community provides. They are able to raise questions and get advice in a comfortable and safe space. They have learned how to set expectations for each other to keep the community strong. Terry talks about the brave parents who have gone before them and those who will inevitably follow.   

Technologies will come and go, families will join and stay as long as they need to, and this community continues to exist for them.  The stories of all these families create a rich history that inspires, educates, and strengthens parents who are on the quest for help for their kids.  

 You can donate to Terry's fight for Michael at https://cureSPG50.org

This is part 1 of 2. Next time, we will talk to Terry about his Fundraising efforts and progress.  

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Sound Design and Music: Jacob Tompkins

Graphics: Ramya Ramaswamy

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 [email protected]

Graphics: Ramya Ramaswamy [email protected] 

“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.

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 Tompkins

Graphic Design: Ramy Ramaswamy

We 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