Hi everyone. My name is Stephanie Tomlinson, and I am excited to introduce to you our newest podcast, talking Zebras. Talking Zebras is a podcast that will feature conversations with quote zebras across the rare, undiagnosed world. This will include doctors, researchers, advocates, industry funders, and most importantly, patients and their families illuminating key developments and trends. Topics will include new developments, policy discussions, and spotlights on our patient stories. I am your host Stephanie. I'm a longtime member of the community who began as a rare patient parent, but who has emerged as a thoughtful and influential voice in the field. I have been the co-director for the Undiagnosed Disease Networks Foundation Peer, which stands for Participant Engagement and Empowerment Resource for the last three years. And I have participated and spoke at gatherings of advocates and thought leaders in the rare world. If you want to learn more or want to be a guest on our podcast, please email me at talking
[email protected]. So before we get started, I thought I would share a little bit more about myself and how I became an advocate in the rare disease space. I am going to reiterate a keynote that I gave as an address to the University of Minnesota Rare Disease Day in 2025. So let's jump in. The title of this keynote was The Rare Parent, A Journey of Hope, grit, and occasionally crying in the car. I'm honored to be here today with a room full of people who care deeply about rare diseases. Whether you are researchers, clinicians, students, advocates, or fellow rare families, you are my tribe because when your child has a rare disease, the world can feel very lonely. Being the parent of a child with a rare disease is like being dropped into the middle of an escape room, except there are no clues. You've been handed a vague diagnosis or worse, no diagnosis at all, told to figure it out. Meanwhile, the stakes couldn't be higher because your child's life depends on it. In 2005, my son was diagnosed with a mitochondrial disease. At that time, he was almost six years old. I won't bore you with the details that led to this, but I remember exactly where I was, what I was wearing, and how our pediatrician's voice cracked when he said the words, there is no cure. There is no treatment. We don't know much about this disorder, and your son may not live to adulthood or even his teenage years. In that moment, my world stopped. My heart stopped, and then all the questions started. What does this mean? Who do I call? Is there any hope? The internet in 2005 was not what it is today. I had to teach myself to research studies, decipher scientific jargon and cold call specialists across, across our country, like some kind of desperate detective mom. Eventually I found a doctor who specialized in inborn error of metabolisms the problem. I'm in Minnesota and he was in Boston, a mere 1400 miles away. But anguish is a powerful motivator and rare parents, we do whatever it takes. I packed up years of medical records, called his office and secured an appointment. Seven months later, we sat in that specialist office and for the first time I felt something new validation. The doctor listened. He didn't have all the answers, but he did have an idea. He introduced us to what is called the Mittal cocktail, a mix of supplements that could with energy product production. It wasn't a cure, but it was something. And when you're a parent of a rare child, something is everything. Being the parent of a rare child with a rare disease means living in a constant hyper-awareness. Every symptom, every doctor's appointment, every test result, our minds never shut off because when the stakes are this high, when a single missed clue could change everything, you don't get the luxury of being complacent. Every day feels like a race against time. You wake up with an urgency that never fades because you know that time is your enemy. You know that science isn't moving fast enough. You know that treatments are always five years away while your child's condition progresses. Today, you replay every decision in our, in your head. Did I push hard enough? Did I ask the right questions? Did I miss something critical? Did I forget to tell somebody something? That might be the clue. The fear that you didn't try hard enough is unbearable, and so you fight every roadblock, insurance denials, dismissive, doctors, endless referrals, prior authorizations. You smash through them because the alternative is unthinkable. You're constantly saying, not on my watch. You refuse to sit back and accept the worst. As a parent, you refuse to believe that there are no other options. You refuse to let time win and not on my watch because rare parents don't wait. We search, we advocate, we demand answers, and when no answers exist, we create them. Four years ago, I considered hope a four letter word, one that didn't even belong in my vocabulary. Hope felt like an illusion, A cruel joke played on a desperate parent like me. Every time I let myself believe the ground would shift beneath my feet, a new doctor, a new test, a new theory, all leading to the same stating answer. We just don't know. So I stopped hoping. I focused on what I could control, managing symptoms, navigating the impossible maze of medical care, bracing for the worst hope felt dangerous. Hope meant opening myself up for disappointment. But then in 2013, in the most troubling time of my son's life, our family's darkest hour hope appeared on the horizon. Okay. Not in the form of a me miracle cure, not in the form of a breakthrough treatment, but in the form of something I hadn't expected. The NIH or the National Institute of Health and the Undiagnosed Disease Network, sometimes referred to as the UDM for the first time, we weren't just another case file. We weren't met with blank stares or shrugged shoulders. We were met with curiosity, commitment, and compassion. For the first time in years, I didn't feel alone. Through the UDN, we found not just answers, but peace because even in the absence of a cure, the presence of being understood and understanding can be enough to restore your faith in the journey. Hope, as it turns out, was never gone. It was just waiting for us to find it again. And now I stand here today, not just as a rare parent, but somebody who believes in hope again. And for everyone involved. I say this with zero humor. Sadly, I have experienced my son coding seven times. Seven times I have heard code blue over the hospital paging system and watched a team of highly skilled professional run to my son's bedside. The last time I experienced this was December of 2023, and here is where the mental health check comes into play. In December, my mother was admitted to the hospital and was actively dying from a fast moving form of cancer while sitting vigil with her, my son developed symptoms that required him to be seen in the emergency department at the same hospital Within 24 hours, I was managing his high level of care needs, being admitted to the neuro ICU and trying to stay present with my siblings and my dad. The charge nurse on the hospice floor noticed I was literally running between floors and did her best to help me navigate the information. Being the sole caretaker for a rare patient doesn't allow for the luxury of a surrogate. I was begging the intensivist to follow our care plan and keep my son at the hospital instead of transferring 'em to another hospital across town because I knew there was zero chance I was going to be able to be in two places at once. Once he agreed to the follow protocols set up by the UDN with 30, within 36 hours, my son was transferred off the unit. The intensivist later admitted I should have listened to you sooner. We rare parents know our par person. We have cared for them at the most intense levels, and I beg of you to see us as partners in care and work as a team. Like I said in the beginning, that was just. Excerpt from a keynote speech that I delivered for the University of Minnesota Rare Disease Day this year. If you would like to hear more or actually tune in and listen to the entire program for that day, the link to that event will be in the show notes. I encourage you to reach out or look into that link. There are some great information from other rare disease families and researchers. Presented and some good discussions in a panel with other families as well. And with Minnesota's our D director, Erica Barnes, I. So that will just be a little bit of some of the topics that we will be discussing here on talking Zebras. I'm excited to say that I have been connecting with some of the researchers across the country. I just attended a incredibly well presented symposium on the transfer of mitochondria and have quite a few scientists and researchers who want to come on the podcast and talk about what they're working on and how. We are going to transform science in a way a lot of us never imagined was possible. So stay tuned, stay well, and I'll see you next week.
