This began a journey that would force him to grow into a man he never imagined. Part of his journey was this podcast, Raising Rare. Now, after completing our sixth season, Sanath is going to step back from this microphone.

In this episode, we reflect on our beginnings, our favorite conversations, and the deep connections that we have developed with each other and our co-host Brittany Ratke.

And with that... we close Season 6.

The male doesn’t’ talk about their #raredisease.

This can be hard on them. There have been very few places for them to gather to take care of their #mentalhealth. David Hogan set out to change this when the COVID pandemic threatened to isolate us all even more. David is affected by Cowden’s syndrome, and his mother had the condition as well. When she died, he felt the full weight of rare disease on his own mental wellbeing.

He noticed that there were many places for women to gather, but it was not a great place for men to show their vulnerabilities. We needed something different.

David took action and started inviting men in the rare disease community into conversation. Those conversations have now become the Men’s Rare Wellness Forum, a monthly opportunity for the male zebras to take care of themselves and each other. All men in the rare community – patients, Dads, brothers, caregivers, and providers – are invited.

You can learn more about the Men’s Rare Wellness Forum by reaching out to David at mensrarediseasemh@gmail.com or searching “@mensrarediseasemh” on Instagram or David Hogan on LinkedIn

Mariah only started this journey earlier this year. She has climbed the initial learning curve very quickly and has used her professional skills to navigate the logistical, interpersonal, and emotional twists that rare diagnosis brings. She even found time to talk to us on Raising Rare.

Her younger son has GRIN2A. Like many kiddos with rare diagnoses, Marcus shines a light that helps him connect with people. While he doesn’t use words, his smile and deep dimples are his secret weapons.

Mariah has a very simple outlook. “Marcus has a rare diagnosis, but he also deserves the same shot at a full thriving life.” She and her husband have embraced the uninvited challenge of helping him find that.

We are sure you will be inspired by their spirit.

Nikki also discusses the emotional roller coaster of navigating rare diseases, the importance of community support, and her new book, 'Rare Mamas: Empowering Strategies for Navigating Your Child's Rare Disease.' The conversation and the book highlight resilience, advocacy, and the need for actionable strategies for parents facing similar challenges.

https://raremamas.com

In this episode, Claudia Parker discusses how her daughter, who has FOXP1 syndrome, has brought so many benefits into her family’s lives.

But this was not easy. Claudia had to deal with the fact that her dreams and plans for her daughter were not their reality. As she prayed for the situation to change, she was comforted that her daughter was not broken; and this was humbling. She was healthy. But she had different abilities.

Once they embraced her daughter for who she was, their lives began to be shaped in wonderful ways. Claudia’s husband uses their daughter’s story to help educators understand how to connect with, understand, and love students who may not fit the mold. Their lived experience has ignited a storytelling passion in Claudia that has resulted in pursuit of a career in filmmaking.

You can see more of their story at http://www.youtube.com/user/Timesofmylife

We hope you enjoy the conversation.

Imagine not being able to tell the people around that you are in pain. Or more accurately, imagine that you have no way of telling whether your child is in pain. If that child is usually happy and laughing, imagine your horror when you figure out that laughter means “ow.”

For Brittany, while Evie can tell her when she is in pain, Evie is so used to the pain that she may not even mention it until it is extreme. And sometimes that is too late to avert a crisis.

Pain management is a very difficult problem in the best of circumstances. For Sanath and Ramya, it gets even more complicated. The treatments they have found that work tend to lose effectiveness after a while. And sometimes, the rebound pain seems worse.

In this episode, Sanath opens up about their relentless struggle to keep Raghav comfortable and the extreme toll it takes on everyone in the family.

In this short episode, we hear about one of the unexpected struggles that Brittany had to deal with earlier this year. Usually, Evie is the one in the hospital but this time, Brittany’s son Maverick was the patient. The remarkable thing is that this challenge turned into a wonderful opportunity for Evie to play the role of big sister at one of her favorite places – Ronald McDonald House.

It really provides a glimpse into the joy of a child, no matter what the circumstances.

We hope you enjoy it.

A mother’s intuition is often the first telltale sign of a rare disease. With the deep bonds that are built during pregnancy, there seems to be a connection between mom and kiddo beyond our understanding. But could this be true for an adopted child?

Jessica Fein is proof that it can.

Her adopted daughter Dalia was born in Guatemala. It was the second time she and her husband had adopted a child from the Central American country. As Dalia fell behind in developmental milestones, Jessica became very concerned. She kept pushing for answers. Eventually Dalia was diagnosed with MERRF (myoclonic epilepsy and ragged red fibers) syndrome.

Jessica’s book “Breath Taking: A Memoir of Family, Dreams, and Broken Genes” is about Dalia’s life, the love between mother and child, and the power of leaning into any circumstances through that love. That is what Dalia taught her. Our conversation provides a glimpse into the writing of the book; the process, the pain, and the joy.

This conversation really touched Brittany, and she said something beautiful, “We live our lives out loud through Everleigh every day.”

When Jill’s son Jonah was born, there was no sign that he was anything but adorable. However, at his 1-year visit, his pediatrician noted Jonah’s larger than normal head and several other symptoms. He connected the dots and ordered further testing. Eventually Jonah was diagnosed with Sanfilippo Syndrome or mucopolysaccharidosis type III (MPS III).

Jill began connecting with other Sanfilippo families and eventually started a company to search for treatments. She found along the way that she could find support from willing researchers, win grants from the National Science Foundation, and even overcome language barriers to reach families around the world. She has made great progress and is very grateful for all the help she has received.

As you can imagine, Jill is very energetic. Her story is inspiring and educational. Her main piece of advice to newly diagnosed parents, “Take a deep breath and calm down. Appreciate your child.”

Constant advocacy.

Almost every interaction regarding the child requires additional effort to bring people or the system up to speed. And this gets piled on top of the normal activity and chaos of life…work, school, the other kid, loss of a family member.

There is help available, but that is just one more task to manage. Applying, interviewing visiting nurses or personal care aids, scheduling, handling unexpected absences, and managing performance. While the extra help is welcomed, it comes at a cost.

On top of this, add frequent admissions to the hospital. Each hospitalization completely disrupts the family, interferes with work, and creates new challenges.

Time management. Fatigue. Relationship tensions.

This burden gets multiplied when dealing with multiple medical systems. These systems do not communicate well with each other. Big Academic Medical Centers may have more capabilities, but often they are too far away to be feasible for emergency care.

Brittany opens up and talks about these challenges and how she and her family manage them. More importantly, she talks about the personal toll this all takes.

It has been a long time friends.

The Raising Rare Team has been dealing with a number of challenges since Season 5 ended. As a result, we have not been able to reconnect and publish an episode until now. We are so glad that you came back!

In our Season 6 Opener, we talk about some of those challenges including frequent hospital visits, mental health, job changes, and other family members. But we also talk about some of the kiddos’ favorite books and the reasons that we love to share our discussions.

And there is a surprise…

Listen all the way to the end and then post a review that includes a comment about how our surprise makes you feel!

Which emotion-character from “Inside Out” are you? Sanath and Brittany reveal the characters they relate to the most. Rare parents experience the full range of emotions, sometimes in the period of a single day, and it can get very tiring.

In the season finale, we talk about the need to step away from the grind of advocacy, social media, and all the other commitments we choose to make. We talk about retreating into our cave to discover the next leg of the journey.

We are taking a bit of break too. We plan to be back in early 2025. Until then, please go back and listen to our other seasons. You will be surprised by how many of our previous guests have become well-known names in the rare community.

Mentioned in this episode:

Invitation to Check Out The Atlas

The Atlas

…maybe the doctors don’t even understand what is going on.

New parents do not know what to expect. There is a lot of self-doubt and questioning even in the best of circumstances. Parents of kiddos with rare diseases are faced with an added wave of unexpected symptoms and problems with their children. Naturally, they expect that the healthcare system will help them.

But when a young patient keeps showing up with a variety of unexplained symptoms, that very healthcare system starts to struggle. Physicians and other providers are trained to recognize and diagnosis diseases. They are taught that they are experts upon whom patients and families rely. When they don’t have answers, they too can feel vulnerable.

In some instances, those doctors begin to question the parents and their motives. There is even a diagnosis for this, Munchausen By Proxy (MBP). The problem is that the signs of MBP and just being a good parent of a rare child look very much the same.

Donna Sullivan shares about traumatic experiences of those suspected of imagining their kids’ illnesses. Their relentless advocacy was costing them their credibility.

Sadly, this situation is more common than it should be.

Donna is now working on a film called, “Complicated” that raises awareness and addresses this issue.

Mentioned in this episode:

Invitation to Check Out The Atlas

The Atlas

Rare Patient Voice is well known for connecting family's stories with the researchers who need to hear them. The founder, Wes Michael, sat down with us to share the results of a caregiver survey they conducted in late 2023. The findings were interesting and affirmed much of what parents raising kiddos with rare diseases already know.

So you may ask, "So what?" The importance of this first such survey is that it begins to quantify the range and depth of the impact of rare diseases on families. These data can now be used to make the case for new policy, for the need to provide for these families, and even to explain to outsiders what they are going through.

Mentioned in this episode:

Invitation to Check Out The Atlas

The Atlas

After seeing the success of the stem cell therapy, Blake and Ryan Benton felt very deeply that they needed to inform and educate others about this approach. From the grass roots of a local rock concert grew Coming Together for a Cure (CTFAC).

The mission of CTFAC is to make stem cell therapy the standard of care for Duchenne Muscular Dystrophy a wide variety of rare and debilitating diseases. This is a challenging objective. Investigators need to be recruited, scientific evidence needs to be accumulated, and regulatory requirements need to be met. Because of the history of stem cell research in the US, all of these steps need to be done with utmost care and professionalism.

Learn more at CTFAC.org

Mentioned in this episode:

Sunshine Dreamer Ad

We are excited to share a late-breaking announcement from today’s guest. Coming soon: The feature documentary, The Sunshine Dreamer, shares the inspiring story of Ryan Benton's journey battling Duchenne Muscular Dystrophy and becoming the first person with DMD to be treated with stem cell therapy, starting in 2008. Thanks to the therapy, his life expectancy nearly doubled, allowing him to continue his passion as a musician and inspiring thousands of others fighting to overcome their diseases. The film also showcases stories of families across the globe who Blake and Ryan helped to receive stem cell therapy through their nonprofit Coming Together for a Cure. Additionally, you will hear from celebrities and professional athletes who have become advocates for stem cell therapy based on their personal experiences receiving therapy. They believe this film will motivate people about the immense potential of stem cell therapy to become part of the standard of care for those battling rare diseases and beyond. You can watch the trailer at CTFAC.org.

Coming Together For a Cure

Invitation to Check Out The Atlas

The Atlas

About 10 years later, his parents and brother made a bold move. They went to Costa Rica to get an experimental stem cell therapy. And it worked. Ryan was able to live until he was 37 years old with little degeneration caused by his DMD. He died in 2023 of complications from kidney stones.

Ryan and Blake started a non-profit named after a benefit concert they held – Coming Together for a Cure (CTFAC). The goal of CTFAC is to advocate for more stem cell research in DMD and other diseases. There are many challenges, especially in the US.

We discussed:

1. How his parents raised the boys and their sister

2. The impact of Ryan’s DMD on Blake’s life and outlook

3. The good fortune for Blake’s parents to have grown up with a stem cell researcher who thought this could make a difference for Ryan.

Mentioned in this episode:

Sunshine Dreamer Ad

We are excited to share a late-breaking announcement from today’s guest. Coming soon: The feature documentary, The Sunshine Dreamer, shares the inspiring story of Ryan Benton's journey battling Duchenne Muscular Dystrophy and becoming the first person with DMD to be treated with stem cell therapy, starting in 2008. Thanks to the therapy, his life expectancy nearly doubled, allowing him to continue his passion as a musician and inspiring thousands of others fighting to overcome their diseases. The film also showcases stories of families across the globe who Blake and Ryan helped to receive stem cell therapy through their nonprofit Coming Together for a Cure. Additionally, you will hear from celebrities and professional athletes who have become advocates for stem cell therapy based on their personal experiences receiving therapy. They believe this film will motivate people about the immense potential of stem cell therapy to become part of the standard of care for those battling rare diseases and beyond. You can watch the trailer at CTFAC.org.

Coming Together For a Cure

Invitation to Check Out The Atlas

The Atlas

However, many of our guests use the technology developed for T1D patients. In fact, Brittany’s daughter Everleigh relies on the Dexcom G7 to manage her glucose levels. In this episode we speak with Suzanne Hansen, a mother of twins, one of whom was diagnosed with T1D just a few weeks after her second birthday. Suzanne has become part of Brittany’s inner circle of T1D experts. We talk a lot about the tech, but the real story is the power of connecting with others who get what you are going through.

Suzanne is active in her local T1D Facebook group and shares her story regularly on Instagram to help others who are trying to manage their kiddos glucose levels.

Mentioned in this episode:

Invitation to Check Out The Atlas

The Atlas

Using art and artists to introduce and celebrate these children is much more personal and evocative. Raghav’s mom Ramya describes it as “creating joy and a feeling of permanence in the fleeting lives we have.” The artists who paint these pictures find a new purpose, a sense of amazement, and a deep understanding of these children.

Listen to rare mom Patricia Weltin describe the origins and the unexpected organic growth of this movement.

Mentioned in this episode:

Invitation to Check Out The Atlas

The Atlas

In this conversation, we reflect on what each of us has learned through these discussions, through life “outside the podcast,” and through other people we have met along the way.

Without any set plan we wander through resilience, learning not to react to some changes in our kids, and the need to inject some art and creativity into the logical and scientific world of rare diseases. Each of these topics are the result and the formative process of our individual growth. And by sharing our lived experiences we fuel that growth.

The three of us really enjoy and appreciate having these open, vulnerable discussions; we learn so much about ourselves and each other. We hope you do too.

Mentioned in this episode:

Invitation to Check Out The Atlas

The Atlas

Ashley has leaned into all of this and now serves CFC community full-time. She was a member of the Board of CFC International and now is on staff. She hopes that sharing her story will make this easier for other families and will lead to changes in how the world manages rare syndromes like CFC.

Mentioned in this episode:

Invitation to Check Out The Atlas

The Atlas

Invitation to Check Out The Atlas

The Atlas

The moment she was born, Michelle says she knew it in her bones that something was different about her daughter even though she didn’t start seeing symptoms for another two months. Over the next few months, Michelle spent a lot of her time googling, asking others for their opinions and was eventually able to see an Ophthalmologist who noticed an issue and suggested seeing Geneticist and then a neurologist after a misdiagnosis.

Michelle has built a supportive community for herself through social media. In the beginning of her own journey a friend told Michelle that she would get through this and eventually would be the stranger giving hope to a newly diagnosed family. Listen along with us while we hear about how important her community has been and the grief and joy that has accompanied it.

Learn More:

mamabearforrare.com

jordansguardianangels.org

Mentioned in this episode:

Invitation to Check Out The Atlas

The Atlas

Josh and Kristin Hoyle knew that life with their new daughter Chloe was going to be different and likely difficult long before she was born. Even in this knowledge, they believed there was a purpose for what they were about to experience. And they leaned into the challenge.

Chloe has Bohring-Opitz syndrome and requires 24/7 nursing care to attend to her respirator, trach, and airway. When the visiting nurse services proved inconsistent, they made the decision to take on that round-the-clock care themselves. That meant Josh would leave his job.

And throughout all this, they found purpose and strength through helping other families. Their story is one of strong faith, amazingly positive attitude, and love. 

Mentioned in this episode:

Invitation to Check Out The Atlas

The Atlas

Stacy’s diagnosis of having a rare genetic condition at an early age actually led to a number of her family members being diagnosed as well. Stacy speaks with us candidly that not everyone has handled their diagnosis with as much hope and drive as she has and that a number of factors have played into that. Stacy’s hope for members of the rare community is that everyone continues to share their stories, that they continue being vulnerable with each other and their medical team because you never know who will benefit from you doing so.

Mentioned in this episode:

Invitation to Check Out The Atlas

The Atlas

On this episode of Raising Rare we talk with Neil Ead, a 40 year veteran of the nursing field who has focused his career on pediatrics and more specifically chronic care. Neil discuses with our cohosts the importance of preparing in advance for the transition from pediatrics to adult care. This process includes finding replacements for most to all members of the care team and how hard this can be for the team members and the family. 

Mentioned in this episode:

Invitation to Check Out The Atlas

The Atlas

Like so many other rare families, Megan has experienced the trials and tribulations of the healthcare system and how important it can be to move to the right location. She and her husband decided to use their skills and resources to build The Children’s Rare Disorders Fund (https://www.thecrdfund.org/) to help support R&D. She wants the fund to help small disease organizations work together and reduce duplication of effort. Listen along as our hosts discuss the different obstacles she has faced and why certain aspects of her son’s journey with FOXG1 have taken so long.

Mentioned in this episode:

Invitation to Check Out The Atlas

The Atlas

Each of the poems that Aisling shares with us touches on a different impact of her life, stories that so many rare parents can relate to, understand, and feel the impact of. This episode is truly special.

Aisling’s poetry can be found on Amazon, Hope and Motherhood: Plot Twist.

As Mark joins us today, his son is now 35, married, recently bought a home and is still having the journey that they never thought he would be able to experience.

What started as a bake sale raising just a few hundred dollars led them down a path that led to a scientist. Everything they did at the moment regardless of how small of insignificant it seemed, and over the next 30 years, culminated to what is happening now.  That scientist and his dedication led to a treatment just 8 weeks before Ryan’s 10th birthday that forever changed the course of their life. More importantly, that scientist has remained present in their lives throughout all of Ryan’s milestones. He was present at his High School graduation, his college graduation, and even recently at his wedding. That scientist’s dedication and commitment pushed the science to a treatment for Ryan and that treatment allowed the development of treatments for so many other children with similar rare diseases.

What words would you use to describe your hopes for the coming year (or coming season of Raising Rare)? After a short break our cohosts are back to talk about changes and mindsets they are having for the coming year.  

What are your goals for the coming year?

We would love to hear from you about any book recommendations, hopes for upcoming episodes, or any stories you may want to share. Please reach out to us on social media (add handles) or at office@salemoaks.com.

Resources From This Episode: Kristin Smedley - https://www.thrivingblindacademy.org/

Mentioned in this episode:

Invitation to Check Out The Atlas

The Atlas

This episode of Raising Rare we check in with our Co-Hosts and hear how their years have changed, set-backs, advances, and just how much work goes into just keeping their kids stable. Their optimism and positive outlook despite hospitalizations, illnesses, and ongoing changes is not only commendable, but also humbling. Join us as our cohosts highlight their favorite episodes this season and how they have impacted our own lives not only during the recording, but their perspectives going forward.

Sanath, thank you. Thank you for sharing your life, your story, your knowledge, and all of your kindness the last 4 seasons. You have truly made our vision and our hopes for this podcast come to life. We have grown and broadened our thinking with every discussion and every episode because of you. We have loved hearing about Raghav growing, but also seeing the growth and changes that you have made in your life and your perspective.

Brittany, you have been the most welcome addition to Raising Rare. You bring a maternal love and openness to all our episodes. You exude such beautiful determination and strength while advocating for your daughter and sharing all her stories with us. We are so hopeful for all of the changes that have been made in Everleigh’s treatment and are hopeful of the positive impact it will have on your daily life. We are blessed that you will be joining us again on the next season.

Kevin, thank you for always being such a warm and welcoming host. Your ability to connect with your co-hosts and guests creates a space where stories are shared freely, advice and tips are allowed the opportunity to be discussed, and listeners feel like they were present during each of the recordings.

The Raising Rare team is so thankful for all of you tuning in to every episode, sharing your stories with us, and giving us the energy that we have needed to keep this going. We hope you join us again after our break to listen in as we see what Season 5 brings.

____

Did you know that Raising Rare has a merch store? Visit https://www.etsy.com/shop/Apparel4Zebras.

At 2 years old, her boys first showed signs of speech delays which triggered a long journey to a diagnosis. Her bright, happy and helpful sons who run around the house adventuring, exploring, and learning new things, much as a 6 year old would be, are now in their 20’s and have lived beyond the typical age of someone with their disease.

After visiting multiples doctors and hospitals all over the country it turned out to be an at home test and Julia’s background in chemistry that proved to be an integral part in her son’s diagnosis.

Julia’s story is one marked with hope, perseverance, and love for her sons. To learn more about her sons, updates on their lives, or if you would like to donate please click on any of the links provided.

In his years of caregiving Vik has come to understand the stresses and burdens of caregiving and is now working to help reduce that burden. Vik has created an app, that will hopefully be launching by the end of the year, called MiraKare which will help caregivers track and better understand how environment, people, and all of the other day to day factors are affecting the person being cared for. We are all on board with the importance of an app that works for caregivers without adding to the burdens they already face and cannot wait to see the impact that MiraKare has on some of the hardest, most invisible work that we do.

Dillon is a strong advocate for mental health awareness, especially within the rare disease community. In this episode, Dillon gets raw about the reality of disappointments and not having access to available treatments. He talks with Kevin about the reality of how some relationships are impacted by his rare disease, and also the profound importance of just being around people in his community.

On October 8th, Dillon is participating in RideAtaxia to help raise money and awareness for Friedreich’s Ataxia. If you would like to learn more about RideAtaxia, to help Dillon reach his goal, or even to join Dillon’s team click here.

Terry’s breakdown of how they made decisions, saved time when able and what a wonderful team they have had working with them. Terry has been a driving force and a constant presence with his team igniting motivation amongst everyone. 

Try your best, do what you can, but commit to everything you choose to do.

You can find out more about Terry’s most recent venture at Rare Disease | Elpida Therapeutics.

Kacy talks with our hosts about the side effects of her medication as well as the current events in her life and how she manages her condition. Together with her father Tim, they provide our listeners with how they have managed the disease as a family and how remaining hopeful and taking part in fellowship with others in the Cystinosis Research Network has been therapeutic. Listen along as our hosts discuss the turning points the family faced on their diagnostic journey, and hope for future treatments that may be available.

Sarah Spear is a rare mama who recognized a need in the community. After doing some market research, she determined that having a database available to the rare community showcasing businesses that are disability friendly, accessible and offered top notch services would save time and energy but also bad experiences. Empowered Together does just that.

We not only encourage but also challenge our listeners to go to empoweredtogether.us to signup and leave at least one review. Sarah needs your help to make this a success for the rare community.

What is the cost of stress?

What is the cost of scheduling everything?

What is the cost of explaining your situation...again?

What is the cost of one more thing?

On this episode of Raising Rare our cohosts have the opportunity to share the costs of Rare Diseases. Those costs reach so far beyond finances. Brittany and Sanath really dig into the impact that raising children with a rare disease has had on their relationships, their decisions, their mental health, and so much more. This episode is an opportunity to start conversations and raise awareness to how costly rare diseases really are on all aspects of life.

Mental Health advocacy has always been a focus and interest of Dillon’s. In this episode he discusses therapy, new endeavors to deal with his own mental health and emotions as well as stigmas around engaging in treatment for mental health including his own. He also touches on the importance of not only connecting with his own FA community as well as finding a therapist that understands his specific situation but also the lack of mental health research in the FA and rare disease community.

Dillon talks with the hosts about the new release of a treatment for FA and what his decision will be about taking it. This episode is emotional, inspiring, and really takes the decisions about treatment much deeper. We are honored to share this episode with you for Mental Health Awareness Month. This insightful patient experience and how Dillon is able to connect with our caregiver hosts is worth the listen and sharing with others.

Angel aid is focused on providing the daily relief a caregiver may need. Daily relief can be achieved through communications that may be encouraging people to take care of themselves (sleep more, eat well, take time for reflection, and increased mindfulness). Angel Aid also offers weekly and monthly support groups, as well as in person experiences such as wellness retreats. Angel Aid has developed the Raregivers Emotional Journey Map, a cycle of hope and grief for caregivers, patients, and professionals. We challenge you to find where you are on the journey map and tag @angelaidcares on social media, or even just share this with your loved ones or friends.

“We are stronger together as a community, there’s enough shared experiences and there’s enough shared science, that if we work together we are going to impart and bring a much more accelerated change.”

https://www.facebook.com/angelaidcares

www.cystinosis.org

Patrick Girondi is an author, songwriter, singer, founder of gene therapy company, but most importantly a father. He started his adult life as a high school dropout, joined the US Air force, worked on the docks, joined board of trade, and has now become a founder and CEO.  His son has a rare disease called beta-thalassemia. Patrick moved to Italy for his son’s treatment, a moved that allowed the money that was going to be needed for experimental treatment to instead be used for a treatment center. 

In the small town in Southern Italy where Patrick now lives, there is a bird that cannot take flight on its own, it requires the help of a tall building or a passerby throwing it as high in the air as it can for it to keep going. Like many rare families, and the rondone, Patrick has had the help of many people along his journey that have given him (and his son) a second chance and have allowed them to keep going.

Flight of the Rondone by Patrick Girondi

After leaving that appointment she battled with how to tell her other daughter her new diagnosis but only a month later she started exhibiting symptoms as well and needed brain surgery as well. Megan quickly realized the importance of advocating for her daughters, but also made the choice to teach them how to manage, advocate, and speak for themselves within their treatment, a responsibility that not all 18 year olds (without a brain injury) are capable of.  

Megan is a rare mama to two 18 year old daughters that have been diagnosed with Familial Cerebral Cavernous Malformation (FCCM), and a teenage son that is a freshman in High School. Listen to the episode to hear more about her journey, how she has handled the changes in her families life, and how her career has changed because of it.

Raising Rare is so excited to share this episode with you. Susan Geoghegan is an amazing mom of two rare babies given the challenge in life of Mitochondrial Disease effecting the FBXL4 gene.  

Susan’s journey into parenthood was not what she had planned, but as a business owner and wedding planner she soon learned that she was going to have to plan things in a much different way and pivoting always had to be an option. 

In 2016 Susan was experiencing a wonderful first pregnancy that quickly took a turn as she developed pre-eclampsia soon after starting the third trimester. As Susan was starting to stabilize they realized that her unborn daughter was crashing and needed to be brought into this world through an emergency c-section at 33 weeks. She was tiny even for a pre-mie and spent the next 77 days in the NICU. During her stay Susan and her husband were given the news that their beautiful baby had a Mitochondrial disease that effects FBXL4 gene and she was only the 31st documented case worldwide, but also that their was a 25% chance of this being passed to any future children as well.  As a family it was decided very early on that those 2-5 projected years would be the best possible, and would be a life of impact. In 2019, Susan and her husband welcomed their sweet son Benji to the world, his diagnosis came much earlier as they had down genetic testing prior to birth. 

Lorelie passed in July of 2021 after coming down with a common headcold and a realization (and fear) of how fragile their health is as a family. Susan now experiences anticipatory grief as she sees signs in Benji of his declining and things that she recognizes happening with Lorelie that at the time they just believed was common due to her age. For Susan, therapy has helped with the grief but is an ongoing process in grounding and learning.

Susan has truly taken on her promise to have Lorelie’s life be one of impact and is truly giving back to other caregivers and the rare community. Not only do they raise money for current research at CHOP on FBXL4 gene, but she also started her own podcast, When Autumn Comes, and a foundation, The Apricity Hope Project. Susan’s podcast has helped her connect with moms of rare kiddos but also bereaved moms as well. Both her podcast and foundation offer hope to caregivers and help shine a light for them when they are in the darkest parts of their journey. In the first 6 months as an organization, The Apricity Hope Project has sent 75 care packages (described as a package filled with items that you would expect to receive if your best friend was the one sending it), and offers hospital go bags filled with everything you might need to survive an unexpected hospital stay as well as some new and exciting projects that are just getting started.

Susan would love to connect, please feel free to check out her website, podcast, or reach her by email.

https://apricityhope.org/

https://apricityhope.org/when-autumn-comes-podcast/

hello@apricityhope.org

Jamas started Sophie’s Hope to share Sophie’s story with the world but also as a sort of patient support group for other families in the community looking for a place to connect. Jamas is also the founder of CureGSD1B, his second non-profit. He talks with Sanath and Brittany about the importance of creating an umbrella organization to bring everyone together and give doctors and patients a place to really learn more. 

It’s great to be back as co-hosts and talk about changes in our lives, holiday struggles, and hopes for this year. We are all looking forward to new adventures, new opportunities, and new experiences as families, community members and political candidates.

Sometimes just being back with good friends, who you will hopefully FINALLY meet in person this year, and a good conversation is all you need to create excitement for what is to come. 

Reach out to Brittany to get the ordering information for Everly Merch, 15% of the proceeds will be going to the Ronald McDonald House in Rochester.

Gary has used his experience as an adult child of an alcoholic to better himself as a parent, partner, professor, and person. He began attending 12 step recovery meetings over 6 years ago, and the connections between his experiences growing up and his experience raising a child with a rare disease are impactful. Together, we discuss the powerlessness of being a parent to a rare child, the importance of focusing on your reaction, and the importance of self-care while doing so.

Listen along as Gary describes to Sanath the similarities between the popular show Naked and Afraid and meeting his own needs as a parent and where he needs to put his focus first. Think building a house in the forest instead of feeling as if you need to fight off the forest.

One of those needs is the importance and power of connections formed with people going through similar realities (Al-anon, parenting a child with rare disease, sports, etc.) As you are able to connect with a community based on common ground, it strengthens you.

Thank you for joining our first meetup. Please keep coming back. If you are interested in taking part of a rare disease anonymous meetup, please reach out to us, Podcast@salemoaks.com . To learn more about Gary or listen to his podcast, please visit www.garycdavid.com .

We look forward to sharing our stories and connections with you again next season.

This year’s Summit was the first in-person one since Covid. The experience of being back together was powerful. There were a lot of new people in attendance. And we got to reconnect with old friends. The tone of the conference was much more patient- and caregiver-centered than before. Sessions about mental health, relationships, and managing life with Rare Disease.

We hope this fun discussion gives you a feel for the power of the Global Genes Patient Advocacy Summit. More importantly, we hope is encourages you to start making your plans to be there in 2024.

Casey is a very creative guy, a songwriter and musician that has toured the world. He has now become the Chief Innovation Officer of Everlum – the guy with all the crazy but brilliant ideas. He knows he needs a team of other creative experts around him to make them a reality. “You know not that you know not... so you surround yourself with people who know the not that you do not know.” The problem that he is trying to solve is so obvious that it is drawing talented people toward him.

The birthdays bring a lot of emotions. Each one is precious. At the same time, today’s technology brings back all the memories leading up to his birth and then the first weeks of his life. Happy highs and scary lows.

Open Treatments started with very high expectations to address some of the biggest challenges to developing treatments for kiddos like Raghav. Sanath has learned that there are such fundamental pieces of the puzzle missing that it is impractical to solve the bigger problems yet. He has deftly pivoted Open Treatments to focus on one of the simplest problems – counting. He explains how the Chan Zuckerberg Foundation helped him sharpen his focus and eventually fund the work. The result, the Open Treatments Connect project.

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 specialists, coverage, and services.

Brittany and Sanath have been through many of these transitions. While they have come to expect the unexpected and are getting better at managing these life changes, it is still very hard. As they share their stories, you can sense the strength they are giving each other. They know each other “gets it” and that allows them to talk about the practicalities and the deep emotions of making transitions as smoothly as possible.

And they both find positives when they get through each transition. We hope they help you do the same.

Brittany decided to apply to the M.O.R.E. program and raise the funds to attend. M.O.R.E. stands for Mothers Of Rare Experience. This virtual program brings moms together to build relationships, learn how to take care of themselves, and experience different types of therapy. The program lasts for six weeks including weekly meetings and events.

The types of self-care included meditation, music therapy, and even equine therapy. These shared experiences have the remarkable ability to help these moms feel like they belong and gives them the opportunity to bring their best to the situations they have with their kids. And it was all done virtually.

This experience has clearly lifted Brittany. It has given her incredible empowerment and optimism as wells as hope and connection with lifelong friends. And all this happened through Zoom.

You can learn more about the programs Angel Aid provides at www.angelaidcares.org

We also have some news about Brittany and Raising Rare in the future. She brings a different story and a different perspective that enriches our conversations. We hope our listeners will enjoy and learn as much from Brittany and Everleigh as they have from Sanath and Raghav.

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

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.

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.

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/
• 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.

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 riverside.fm to create Raising Rare.

(c) Salem Oaks 2022

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.

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 Podcast@SalemOaks.com

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

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.

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.

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.

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.

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. 

We also talk to Billy about his interests and what he has done since the clinical trial.  He has been fortunate because the exon-skipping drug worked well for him.  Even though he still gets weekly treatments, he is just a regular young guy.  However, he has an appreciation for the everyday things he can do without assistance. 

Terry also shares how she found herself doing more and more on the advocacy front.

In part one of this interview, we hear exactly how Billy was diagnosed and how Terri’s intuition told her it might be DMD the first time they noticed Billy was having some issues.  In part one, we focus on Terri’s side of the story.   She uses the phrase “fast forward” quite a bit which emphasizes just how much time is spent waiting for progress.

In part two, we will pick up on Billy’s perspective and his memories of participating in a clinical trial.

Their story is remarkable because the drug Billy received in that clinical trial has drastically changed the progression of his DMD and because he was at the right age at the right time to be enrolled.

In addition to the impact on their lives, Raghav’s condition takes away from their time at work and the contributions they can make. This could prevent them from advancing their careers. Fortunately, their employers have been especially good at accommodating their needs and providing them the flexibility they need. 

This is one of our shorter episodes, but we think you will agree that it is one of the most important. 

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

Please donate to https://cureGPX4 or support Salem Oaks prodiction costs at https://patreon.com/salemoaks

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 finances can be uncomfortable and difficult. However, following a recent summary from their insurance company, Sanath had the opportunity to tally up the costs and he thinks it is important talk about them. It was relatively easy for him to look at the medical costs because there was a clear paper trail. He breaks down those costs and you may be surprised by what he found.

Next time, we will discuss the multiple unseen and unappreciated indirect costs that he and Ramya must bear.  

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 treatments to loosen up the mucous in her lungs. The goal was to reduce the number of infections. Luckily, the life expectancy for CF had increased to 32 years.  

Ten years later, she learned about a clinical trial and began a routine of traveling across the country to get experimental treatments.  And this is when her life began to change… miraculously.

Please tune in to our occasional series “The Other End of the Tunnel” and hear Nicole’s story about living in that tunnel.  

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 impossible to run clinical studies that can show statistical significance. If there is no approval, then insurance companies and even governmental payers like Medicaid are not going to pay the bill. Even if one could find a way to pay, how do you produce the medicines that emerge in such small amounts. 

This is the world that Sanath has been wrestling with since Raghav was born. Now he is doing something about it. He and his team have launched Open Treatments, an organization with a platform to make research and the R&D process accessible to families fighting these ultra-rare conditions.  The idea is to decentralize the research enterprise to individual diseases by pooling and sharing the tools, skills, processes, and knowledge about finding promising treatments. The vision is to find the treatments they need now and enable the hand-off of these treatments to commercial, governmental, and philanthropic entities that can ensure patients around the world have access to the therapies for years to come. 

In this episode, Sanath explains the origins and future of Open Treatments. (www.opentreatments.org )

Please support Raising Rare and the search for a treatment for Raghav by donating to Cure GPX4 

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 found that these relationships are essential to get them through. And we also explore how the common goal of finding a treatment for Raghav has impacted those relationships.  

This is a replay of one of our favorite episodes.

Sound Design and Music: Jacob Tompkins

Graphic Design: Ramya Ramaswamy

Renowned experts provided input but the decision to take the drastic step of an umbilical stem cell bone marrow transplant fell to them. This forced them to make a series of “life-event” decisions: where to live, career choices, and schooling for their healthy daughter. 

Piling these decisions upon each other led to emotional strain which could have led to decision paralysis. They learned that there is a difference between knowing what you have to do, and then actually doing it.

We talk about the biases that we all bring to making decisions.  Felicia felt like she could not watch her child go through the procedure until another mom told her, “You can do this. You will do this.”   Miguel just wanted to avoid disruption in their lives.  He had to get past this for them to do what was need. 

This couple has dealt with this experience in their own distinct ways. Miguel wrote a book, Felicia started a nonprofit. Control what you can. Get more information. Try to let go of the control. We get a chance to hear more about CGD Association of America, an advocacy that Felicia has started to support families through this forest of decisions.

Please order Miguel’s book today, More Than You Can Handle:

A Rare Disease, A Family in Crisis, and the Cutting-Edge Medicine That Cured

the Incurable

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 triumph. However, they have decided to share the harder part of their journey.  

Miguel has written an enthralling book entitled More Than You Can Handle: A Rare Disease, A Family in Crisis, and the Cutting-Edge Medicine That Cured the Incurable.   It is the story of a family straining under the weight of their son’s diagnosis of chronic granulomatous disease (CGD).  Written in the first-person, Miguel shares his deepest thoughts, fears, and vulnerabilities. He relates the mistakes he made along the way and how he has come to grips with them. 

It was wonderful to have Felicia give her angle on some of the stories too. Felicia has used the experience and started a nonprofit CGD Association of America. CGDAA is committed to advocating on behalf of patients, carriers, and families by providing clear, accurate, and independent news and information about CGD and advancing CGD research.

During the interview, Miguel and Sanath connect in a way that only rare dads can. Sanath is at one end of the tunnel, filled with little more than hope and drive. Miguel is at the other end of that tunnel, able to provide encouragement and speak of hopes fulfilled. 

We highly recommend Miguel’s book.  It is extremely well written and the story teaches some important lessons.  It will be available starting March 2. You can order it on amazon. More Than You Can Handle 

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 times he had no reaction.

They began a search for a solution. 

In this episode, we hear about the options they looked at before finally deciding to go with a Cochlear Implant.  We talk about how a cochlear implant works and the high-tech capabilities it has. We also hear the surprising results of this change and the impact it is having on their lives. 

We want to thank Stealth BioTherapeutics for supporting this episode of Raising Rare. Stealth BioTherapeutics is an innovative biopharmaceutical company developing therapies to treat mitochondrial dysfunction associated with genetic mitochondrial diseases and common diseases of aging.

https://www.stealthbt.com/

To learn more about Cochlear Implants like the one Raghav had placed, go to https://www.cochlear.com/

 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

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 ramya@cureGPX4.org

Sound: Jacob Tompkins (losstudiosnc@gmail.com)

 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 nikki@raremamas.com

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 losstudiosnc@gmail.com

Graphics: Ramya Ramaswamy ramya@cureGPX4.org

Nikki McIntosh, founder of Rare Mamas. 

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  losstudiosnc@gmail.com 

Graphics: Ramya Ramaswamy ramya@cureGPX4.org 

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.  

---------------

Sound Design and Music: Jacob Tompkins

Graphics: Ramya Ramaswamy

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 losstudiosnc@gmail.com

Graphics: Ramya Ramaswamy ramya@cureGPX4.org 

 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

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 role they wanted to take on, they never competed for membership in this club. 

Their life experiences have prepared them to take a step forward and accept the responsibility leadership brings. We talk about the various challenges they face and how they each have their own way of leading through them. 

We also discuss what they have learned from each other and others in the broader rare disease community. 

Donations can be made for SLC6A1 research at MilestonesforMaxwell.org 

Donations for GPX4 research can be made at cureGPX4.org

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. After finally making a very disturbing diagnosis, the doctors said, “We don’t know what it means. We are hoping you will become the expert.” Imagine how hard that would hit you. Not many people would respond as Amber did.

We invited Amber to speak because she and Sanath are kindred spirits, helping each other along the journey. They each bring different skills, mindsets, and experiences to the table and they recognize how they can be stronger together. We think you will find Part 1 of our discussion with Amber very interesting.  

https://slc6a1connect.org/milestones-for-maxwell/

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 Sanath and Ramya’s efforts to find a cure for Raghav.  These communities start with some of their closest friends, expand out to other rare disease parents, and then even farther to even more families.  Sanath shares some wonderful examples of how these people have made real differences in their lives.  

Sound Design and Music: Jacob Tompkins

Graphics: Ramya Ramswamy

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 paints a vivid picture of what this means for Ramya and him. He also reports that Raghav is developing communication skills. Given his condition, this means that his family needs to learn what he is trying to tell them. We hope you enjoy hearing about this very important aspect of their life.

Raising Rare needs your support. 

If your company is interested, please contact us at sponsorship@raisingrare.fm 

If you would like to personally donate, please visit https://cureGPX4.org/donate 

Music: Jacob Tompkins (losstudiosnc@gmail.com)

Graphic Design: Ramya Ramaswamy (ramya@curegpx4.org)

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 anguish such a decision can bring. We caution you; this might be disturbing. 

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 found that these relationships are essential to get them through. And we also explore how the common goal of finding a treatment for Raghav has impacted those relationships.  

Sound Design and Music: Jacob Tompkins

Graphic Design: Ramya Ramaswamy

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.  

It turned out that this change served to enhance both the attendance and the effectiveness of the conference. It was a milestone in the search for a treatment and cure for baby Raghav. In this episode, we turn back to the conference to talk about the content and outcomes from that day.  

The importance and power of bringing experts in different fields together to focus on one problem just cannot be overstated.  

Please donate to cureGPX4.org or contact us at info@raisingrare.fm to sponsor the podcast.

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 conversation about anything. We would talk two lines and then my mental capacity would be full. I can’t hear anymore. I am not able to process this.” Ramya

In this episode, we discuss some of their biggest fears and a few dreams they have for Raghav.

Music and Sound Design by Jacob Tompkins

Graphics by Ramya Ramaswamy

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 treatment for Raghav . But that is all they are – a group. They needed a team.

To get things started, Sanath and Ramya decide to host a scientific conference focused on GPX4. This will give the scientists a chance to meet each other, let Sanath set some expectations, and begin to build a team. It was a great plan. 

The conference was scheduled for March 19 and all the arrangements were coming together. This was a critical milestone in their journey.

On March 13, COVID began closing down the country. In fact, it had already hit Seattle especially hard. 

What would you do? Listen to this episode and hear how they responded.  

Special thanks to Jacob Tompkins for our music and sound editing; and Ramy Ramaswamy for our graphics.

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.

This video can be seen on Youtube

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, they want to help a family in need, but they need more to convince them to really commit. Sanath knows very little about the biology of SSMD and he is afraid of looking dumb. He is more afraid that the scientists will turn him down. 

He hatches a plan to draw them into his problem. Listen week how Sanath creates and uses a simple Roadmap to learn more, build his confidence, and overcome his fears.  

Key Links:

Roadmap Chart: https://www.curegpx4.org/roadmap

Roadmap paper in Google Docs: https://docs.google.com/document/d/1v7TIArJsPEnnyf9oleMxhFdSCWK0RVK78K69o7bA82U/edit

Credits:

Sound Design and Music: Jacob Tomkins

Graphics: Ramya Ramswamy

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. 

In this episode, we discuss the heroic work that Sanath undertook to start a compassionate use study to look at whether an experimental drug could improve Raghav’s condition. 

He learned about the paperwork, ethics reviews, and time required to get such a study started. He found that not everything was in his control but that he could take charge of the things that are. 

Doing this work forced him to wrestle with his own emotions and grow stronger.

Hope. Action. Strength. Hope.

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.

Sound design and music by Jacob Tompkins

Graphis by Ramya Ramaswamy

Sanath is not in this fight alone. He has a wonderful partner, his wife Ramya. In this episode we get to hear Ramya’s story and how she is using her skills and strengths to generate awareness and resources. 

We get a glimpse into why they are such good partners – they look at the situation differently. Sanath sees the community as a source of knowledge and diverse perspectives. Ramya sees the community they are building as a family, a source of shared support. She turns to the SSMD and hypotonia communities for ideas and information about managing everyday challenges. 

Both Sanath and Ramya bring a relentless optimism and resilience to this fight. That spirit shines through in this discussion with the couple.  

When we last talked to Sanath, he and Ramya had no idea what was going to happen next. They were heading into the unknown, and they felt very alone.

In this episode, we discuss how they got started attacking the problem and pulling together the resources they need to find a treatment and cure for Raghav. It is the kind of challenge that you cannot face by yourself. You need a community. You need to talk to people. You need to test your ideas and find your place in that community. The learning curve they faced was steep, if not vertical.

As we have seen, Sanath is a relentless learner. 

You will hear how we met and how he approached this steep climb ahead of him. 

His open-source mindset and his brash approach are positioning him to find early footholds on the shoulders of others who have gone before. But as with any climb, the journey is unique, and it doesn’t take long to find yourself at a new juncture. Do you take the route you have become comfortable with, or do you leap over to a path that few have taken before?

Learn more about cureGPX4

Learn More about Global Genes

Learn more about Salem Oaks

Sanath and Ramya met in grade school. Before they were married, they had all sorts of experiences that prepared them for the unexpected – a son with an ultra-rare developmental disorder. His name is Raghav. 

Raghav was born with a missense genetic variant of GPX4 resulting in a disorder known as Sedaghatian-type Spondyl Metaphyseal Dysplasia (SSMD). But Sanath and Ramya didn’t even know the exact diagnosis until Raghav’s first birthday. Even when they did know the cause, they still were without a clear picture of what would happen next.

In this episode, Sanath introduces us to his family and reflects on the stories of all the dots that they are connecting as they begin the search for a treatment.

A search that no one knows where it will take them or what dots they will experience. 

And they invite you to come along.  

We think you will find it remarkable.

Imagine the excitement of becoming a new parent and then within hours finding out your child has a serious developmental disorder. What would your reaction be? Where would you go for help? Who would you call?  There are no instructions for a young mother and father to get through the first night, let alone the lifetime of their child. Their life has been changed forever, just not in the way they expected it would.

On Raising Rare we are bringing you the story of a young father whose son has an ultra rare disorder known as Sedaghatian type Spondylometaphyseal Dysplasia, or SSMD. Each episode we will find out what is going on in the life of Sanath and his son Raghav.