“This journey has changed our lives, has reshaped my identity. Plans change, dreams shift. I've had to learn to become more than just a mom.”

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.

Five years ago, we first spoke with Nikki McIntosh. In this episode, Nikki returns to share her journey as a mother of a child with spinal muscular atrophy (SMA) and the profound impact of clinical trials on her son’s life. Miles is growing up and has started playing wheelchair tennis. Nikki shares the joy this brings to her.

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

As a new parent, you feel like “oh, my gosh, I must be going crazy” or…

…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

We often hear the stories of patients and caregivers.

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

In Part 1, we heard about the bold and courageous approach that Ryan Benton's family took to treat his Duchenne Muscular Dystrophy.

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

Blake Benton’s earliest memories were his brother declining due to Duchenne Muscular Dystrophy.

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

Type 1 Diabetes (T1D) is not considered a rare disease according to the numbers. The T1D community is quite large and includes people of all ages, races, geography, and conditions.

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

Beyond the Diagnosis is more than a traveling art exhibit. It is a movement to humanize the children who happen to have a rare disease. So much of the work around rare diseases is logical, scientific, and medical. It can be a world without feeling.

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

We discuss the joys, challenges, and surprises of raising a child with a rare disease every episode.

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

Losing a child is heartbreaking. Ashley Genelin lost her son Myles when he was just 3 years old. He was diagnosed with cardiofasciocutaneous syndrome or CFC. They did their best to keep him at home as long as possible, even when caring for Myles was like running an ICU. Make-A-Wish allowed them to take this mini-ICU on the road so that Myles could enjoy being with their extended family and the great outdoors. The memories built in this medical camper still serve to connect the rest of the family with Myles.

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

On this episode we talk to Michelle Fruhschien a mom of two, Noah and Hailey(Jordan Syndrome). 

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

The stories of rare kids powerfully shape the stories of the parents who are raising them.

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.

On this episode of Raising Rare we talk with Stacy Lloyd, a rare disease patient and board certified patient advocate. Stacy has dedicated her life, even much of her free time to healthcare in one way or another. She currently works at the American Medical Association, previously at Saavy Co-op, and is on the board of the VHL Alliance. After being diagnosed with Von Hippel-Lindau (VHL) at a young age, doctors told Stacy that she might not be able to walk as she got older and tumors continued to grow. She went on believing this for most of her early adult life and even admits that she never thought about retirement or other aspects of growing older because they just wouldn’t pertain to her. It wasn’t until 2018 that a doctor she met at a medical conference for VHL told her that she was going to be alright, she would be just fine, that she started to really consider her life.

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

As Raising Rare continues to grow and evolve we are going to start bring in professionals that have beneficial stories for Rare Parents. These are individuals who have dedicated their lives to helping families in one aspect or another as they care for their children. Their viewpoints, stories, and perspectives are uniquely beneficial to parents that are involved in the rare community.

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

On this episode of Raising Rare we talk with Megan Nolan, a rare mama working to make a difference for other Rare Families. Megan has launched the online magazine Rareparenting.com in an effort to provide rare families with resources that may be beneficial to them.  

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

This episode we are joined by Aisling Finn, an amazing poet and rare disease mama. As she shares her poetry with us, we react to the emotions, struggles, key moments and pain that are so clearly pictured in her words. Aisling shares with us the impact that writing poetry has had on her, and her expression of her feelings, and how they have helped her cope with her own rare mama journey. 

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.

On this episode in our Other End of the Tunnel Series we are joined by Mark Dant. When their son was just three years old, Mark and his wife were told that their son would pass within the decade after his diagnosis of MPS 1 and the lack of treatments available. As they laid on his floor listening to him breathe on the night of his diagnosis, they buried the home that might have been and the dreams of the life that was no longer possible. 

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.

Welcome back! We can’t believe we are already on our fifth season of Raising Rare. So much has happened since we started this podcast and we hope to keep evolving, growing, and bringing remarkable stories and individuals to all of our listeners.  

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

We have had an amazing time sharing our stories and our guests with you this season. We hope that this season of Raising Rare has had as profound an impact on you as it has on us. This episode is sadly the last of the season, but we will be back again in January with a new lineup, some old friends, and continuing to share the stories that started it all.

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.

On this episode of Raising Rare we speak with Julia Taravella, the mother of two sons with a lysosomal storage disorder called AGU, Aspartylglucosaminuria. 

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.

On this episode of Raising Rare we talk with one of Kevin’s old colleagues, Vik Sharma. Vik is the father of two wonderful children Lily and Mira; Mira was born nonverbal and non-ambulatory due to Cerebral Palsy. Vik talks with our hosts about the importance of patience, the reality of impatience, and how humbling being a caregiver really is. As a seasoned caregiver, Vik discusses the importance of trial and error, mixing new technology with old, and simply finding what works best for your family in each situation.

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.

Since last talking with Dillon earlier this year, he has faced some difficulties related to his mental health, access to medication, and not being granted access to a new clinical trial. It is always a pleasure to talk with Dillon and this episode follows suit.

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.

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.

On this episode we are able to interview one of our first guests again, Terry Pirovolakis. Terry gives us the update on what they have gone through in the last three years, his 4 million dollar gamble, a massive career change and how his son Michael is doing now after receiving a dose of gene therapy. 

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.

On this episode we talk with Kacy and Tim Wyman. Kacy is a 21 year old sophomore in college who was diagnosed with Cystinosis at the age of 4. Kacy has experienced a lifetime of medication to help treat her condition, and also anti-rejection medications in an effort to keep her donated kidney alive and well inside of her. Her father Tim was blessed with the opportunity to donate his right kidney to her in 2015.

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.

This episode is a call to action, an opportunity to seek out available resources, and another connection to an amazing rare parent striving to make the rare community better.

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.

Life with a rare disease changes everything for parents.

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.

Dillon Loomis- Head is a dear friend to Salem Oaks, a mental health advocate, a clinical trial participant, and a Friedreichs Ataxia Research Alliance Ambassador. The Salem Oaks team met Dillon a number of years ago and are thrilled to have him join the hosts of Raising Rare on this emotional episode to discuss his life experiences, clinical trial participation, and what it’s like living with FA (Friedreichs Ataxia). Dillon emotionally discusses his motivation for participation in clinical trials is the obligation to feel that this is how he can move forward research and can do better with his 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.

Cristol Barrett O’Loughlin, founder of ANGEL AID CARES, was a caregiver to 3 of her brothers early in her life; now she works to care for caregivers. Cristol is focused on the mental health and wellness services of caregivers within the rare disease community, her lived experience created a passion to help. In this episode Cristol talks about the grief she has experienced in her life, not just that of loss, but also the grief of what she thought her own life was going to look like.

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

Later this year we will be talking to Kacy Wyman and her Dad, Tim. Kacy was diagnosed with Cystinosis when she was very young and is now in college. Her family has given her more than just support. You will need to listen to find out more. For now, use May 7 to raise the awareness of cystinosis and support the research efforts to find find improved treatments.

www.cystinosis.org

Our goal is to provide a place where patients and parents can express their lived experience to provide hope and guidance to others. Our guests’ experiences vary widely and do not necessarily reflect the views and opinions of Salem Oaks or Raising Rare. 

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

No one wants a phone call from the nurse at their children’s school. In the fall of 2020, Megan received that call and was told that her daughter, who previously showed no symptoms, had a seizure and was being taken by ambulance to the hospital. After a whirlwind of tests and doctors and not being sure what any of it meant or what was going on, they finally received news. Megan’s daughter had 2 lesions that were 2 centimeters long pressing against her motor strip. They were told that this was genetic, meaning that due to her daughters being identical twins, they both had it.  

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

This season, you probably have heard Everleigh’s voice a little more often. It was this story that gave us the idea.

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.

On this episode of Raising Rare, we have the opportunity of talking with Jamas LaFreniere the father of a daughter with Glycogen Storage Disorder Type 1B. Jamas discusses their diagnostic journey and how it may be different from many other rare disease families, even those with the same disorder, his disbelief in what the treatment option is and hopes for a cure. Jamas and our hosts offer their experiences with a broad range of topics, public access to mouse models, drug repurposing, strict diets, transitioning to school and how different monitoring systems offer a bit of security in these new situations. Jamas also discusses the quality of life potential for GSD1B patients and the adult population that they now have a connection with.

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. 

Welcome back to Season 4 of Raising Rare.  

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.

Thank you for joining us for the first rare disease anonymous meetup. On this episode we talk to fellow podcaster and rare parent Gary David about the uncertainties of raising a rare child.

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.

From what they had for lunch to some of Kevin’s most meaningful moments. In this different episode, Sanath and Brittany ask Kevin about his experience at the 2022 Global Genes Patient Advocacy Summit. While we all planned to meet there, it just was not in the cards. Kevin recorded the episode on location from the Town & Country resort in San Diego.

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.

We spoke to Casey McPherson during the recent Global Genes Patient Advocacy Summit in San Diego. Casey’s daughter Rose has HNRNPH2 (www.tocurearose.org ) He has made the extraordinary step of starting his own lab. Even more wonderful is that this lab is committed to providing a more efficient, accessible lab capability to other parents looking to find a treatment for their kids. This lab has become www.everlum.bio that offers preclinical services without the bureaucratic hurdles and delays.

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.

When we first met, Raghav was just one year old, and they had just gotten his diagnosis. That was 3 years and 50 episodes ago. Raghav is now 4 years old and Sanath has started a new non-profit organization called Open Treatments. In this episode we talk about both.

The birthdays bring a lot of emotions. Each one is precious. At the same time, today’s technology brings back all the memories leading 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.

What a great way to introduce our “Comparing Notes” occasional series. Who knew talking about g-tubes could be so fun?

The day you hear that your child has a rare disease your life changes. And the changes just keep coming. From dietary changes, to feeding tubes, to school, and even additional diagnoses. These lead to even bigger changes like moving from one state to another to find the right 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.

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

Brittany decided to apply to the M.O.R.E. program and raise the funds to 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.

Just imagine a world where every single newborn is screened for all known genetic diseases.

In part 2 of our discussion with genomic scientist and rare dad Mike Hu, we discuss Project GUARDIAN, his effort to provide Genomic Uniform Assessment of Rare Disease In All Newborns. This visionary project could help reduce the emotional, physical, and developmental pain for millions of people.

We know that newborn screening is one of the most powerful means of identifying children who will need special care early so that care can begin right away. But fewer than 100 diseases are currently included in the most advance newborn screening panels. There are more than 7000 rare diseases. In the past 15 years, only 7 diseases have been added to approved list. At this rate, using the current technology, it will take centuries to have a complete panel approved.

There has to be a better way. Mike has an idea for how to approach the problem differently. In this episode he talks about the underlying issues with the current protein-based tests, the challenges of changing to a new technology, and the enormous benefits individuals, families, and society at large would gain.

mike@project-guardian.org

In the first part of our discussion with Mike Hu, we hear the story of his two sons with Mucopolysaccharidosis Type 2, or MPS2. MPS2 is also known as Hunter’s Syndrome. I first connected with Mike during a Rare Disease Week session in which he talked about a truly visionary project. We often speak with parents who find themselves thrown into this world of rare disease absolutely cold with little or no training or experience in the world of genetics, biology, and scientific endeavor. This is certainly NOT the case for Mike.

MPS2 leads to a wide variety of symptoms and issues. Mike’s are a few years apart, but they were diagnosed at about the same time. Because of this, Hunter’s Syndrome has affected them differently. Fortunately, there is a therapy available, and they were able to start it right away. They also were able to enter a clinical trial to test an intrathecal formulation.

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

“I am afraid there is something wrong with her brain”

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.”

Everleigh was the answer to Brittany and Chris’s dreams, their sunshine and rainbow baby after years of trying to become parents. Clouds started forming before Everleigh was even born. Because early ultrasounds showed that she had some signs usually associated with Down’s Syndrome, they decided against further pre-natal testing. When Everleigh was born, it turned out that she did not have Down’s Syndrome after all.

However, after two or three weeks, Brittany was not feeding well. In fact, she was unable to retain anything. She was not growing, and in fact she was losing weight.

Thus began a nearly 4-year diagnostic journey. Fortunately, they live close to the Mayo Clinic and were able to get care from some extraordinary professionals. It turns out that Everleigh has a unique variant of SETD5, a gene that controls several other genes. Please listen to how this diagnosis has helped Brittany connect with other parents and the ups and downs of being part of such a small community.

Spoiler alert: We will be getting to know Brittany and Everleigh better in future episodes.

Have you ever been listening to a podcast and wish you could suggest a question for the interviewer to ask? You know there is something else you want to know but the conversation just seems to miss it.

We have and we wanted to try something new to address the issue. Recently, Sanath put out a request to ask him anything with the promise we would answer as many as we could on our show. It was a bit scary, not knowing what we might have signed up for. But a commitment is a commitment.

In this episode Sanath address a few of those questions.

• How to give it your all to help your child with an ultra-rare condition when you don’t know where to start?
• Any treatment for kids with Sanfilippo Syndrome? Can I get access to clinical trials? https://curesanfilippofoundation.org/what-is-sanfilippo/
• 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.

Last year, Sanath started a huge undertaking to sift through more than 4000 existing drugs to find any that might help Raghav. This high-throughput screen looked at all sorts of medications with the hope that one or more would show unexpected activity in Raghav’s very cells.

And they found one.

It was an approved and marketed drug, which meant it was possible to obtain.

But you cannot just go grab prescription only drugs from your corner pharmacy for anything you want. The drug is designed to treat the inflammation associated with asthma – not exactly Raghav’s situation. And in this case, Raghav could not take the tablet form or the dose that is generally available – additional specialized pharmacy work had to be done. All of this is costly, and they were not sure if insurance would pay any part of the bill.

In this episode we talk about how Sanath and Ramya approached each of these hurdles.

Salem Oaks uses riverside.fm to create Raising Rare.

(c) Salem Oaks 2022

As we launch Season 3, we learn about some exciting new developments for Raghav over the past few months. Some huge milestones were met while we were on our hiatus. You will need to listen – no spoilers here.

We also looked back at Raising Rare in 2021. The beauty of reflecting on our last season is that we realize how much happened and how quickly Raghav’s situation can change. More than that, we can remember the important lessons we learned from our guests, our discussions, and the twists and turns of life. We continue to try to help our listeners find hope through the podcast.

We are very excited to be starting our third season and look forward to exploring new topics in 2022 that are important to the Rare Disease community.