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
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.
“Raghav’s expression for discomfort is laughter, counterintuitively. We call it his cranky laughter.” Sanath RameshImagine 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.
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.
“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.”
“I am so thankful that we had that one Christmas without knowing…” Jill Wood.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.”
Raising a child with a rare and complex disease is a full-time job… or more. 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.
Flexibility is critical when talking about raising a child with a rare disease.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!
Season 5 has been fantastic. We feel so thankful to our guests for sharing their stories. 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 AtlasThe Atlas
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 AtlasThe 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 AtlasThe 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.orgMentioned in this episode:Sunshine Dreamer AdWe 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 CureInvitation to Check Out The AtlasThe 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 sister2. The impact of Ryan’s DMD on Blake’s life and outlook3. 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 AdWe 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 CureInvitation to Check Out The AtlasThe 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 AtlasThe 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 AtlasThe 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 AtlasThe 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 AtlasThe AtlasInvitation to Check Out The AtlasThe 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.comjordansguardianangels.orgMentioned in this episode:Invitation to Check Out The AtlasThe Atlas
“We have a heartbeat, right?” 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 AtlasThe Atlas
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 AtlasThe Atlas