The Year of the Zebra
What is this initiative?
2023 is the 40th anniversary of the Orphan Drug Act which gave hope to the hundreds of millions of people around the world who are directly affected by rare disorders (also known as “zebras,” because they are less common than horses). Elsevier Health is launching an ambitious initiative called “The Year of the Zebra” to educate millions of current and future healthcare professionals, caregivers, researchers, patients, family members, and the general public about these zebras. We are inviting an exclusive group of organizations and individuals to “adopt” one or more zebras by contributing to the development and distribution of highly engaging and impactful educational content about those rare disorders that will collectively reach millions of people around the world.
Rare Disease Day
Tuesday, February 28th is Rare Disease Day, when the world comes together to show support for the 400+ million people inflicted by 7,000+ rare diseases globally and those who care for them! It is also the day that Osmosis from Elsevier launches our global Year of the Zebraeducation initiative to drive more awareness of and support for rare diseases in the healthcare community.
The first Rare Disease Day was celebrated on February 29th, 2008 - the rarest day given that it only occurs every Leap Year. Since then, Rare Disease Day has been celebrated on the last day of February. This year it falls on Tuesday, February 28th.
Importantly, that first Rare Disease Day back in 2008 marked the 25th anniversary of the Orphan Drug Act, which revolutionized the way treatments and cures are developed for rare diseases. Today, fifteen years later, the Year of the Zebra is a renewed commitment to achieving an inclusive healthcare system, to educating as many people as possible, and to leveraging Osmosis’ far-reaching network of followers and subscribers to ultimately drive research, action, and improve patient outcomes.
Moving forward, each week, we will continue to feature one new video highlighting a rare disease or “zebra”. That video will also be featured on the new Elsevier Rare Diseases Healthcare Hub, a global hub, available to all, that will feature the very latest research affecting patients and featuring the latest research, developments, and education materials for the rare disease community. The Year of the Zebra initiative will also see the launch of Elsevier’s new journal dedicated to the topic – Rare. Open Research in Rare Diseases.
Please help us spread the word about this worthy and important initiative in the year ahead.
Introducing Rare: Open Access Journal
Rare is a new Gold Open Access journal that publishes international research on direct clinical and psychosocial care, diagnosis, pharmacology, public policies or ethics. Rare includes rigorously peer-reviewed articles on research that improves the well-being and quality of life of patients with rare diseases - as well as undiagnosed, unsolved disorders - and their families.
Through Rare, researchers, healthcare professionals, policy makers, and the rare disease community have a multidisciplinary open access scientific journal that covers all aspects of living with these disorders.
Editor in Chief: Prof. Dr. Wendy van Zelst-Stams, Radboud University Medical Centre in Nijmegen, The Netherlands
This week's Zebra is brought to you by
The Zebra of the Week is: Infantile Neuroaxonal Dystrophy
Electrical wiring is an integral part of any machine’s circuitry. It is usually a complex system that allows for the transfer of information, energy, and more. Any damage to the individual wires will affect the correct functioning of the whole. In the human body, this wiring is best represented by the nervous system and the nerves can be likened to the individual wires whose malfunctioning will have repercussions on everyday life. One example of such malfunctioning happens in infantile neuroaxonal dystrophy, this week’s zebra.
Infantile neuroaxonal dystrophy (INAD) is an ultra-rare, inherited degenerative disorder of the nervous system. It is caused by changes in the PLA2G6 gene, which contains the body’s instruction for making the enzyme phospholipase A2, whose function is to break down certain lipids. Impaired breakdown of lipids is thought to result in the excess accumulation of cell membranes in the nerves, resulting in the symptoms of INAD.
These symptoms usually start to appear between the ages of 3 months and 3 years. A common pattern is the slowing of children’s development, followed by loss of acquired skills (such as the ability to sit or stand), and progression of symptoms such as loss of muscle control, speech problems, difficulty swallowing, and more depending on the subtype of the disease.
INAD is estimated to occur in 1 to 2 children per million globally.
To learn more about the diagnosis and treatment of infantile neuroaxonal dystrophy, watch the dedicated Osmosis video on YouTube and Osmosis.org
Meet Amelia
Up until she was 2 years old, Amelia was growing up inconspicuously, babbling, crawling, and showing little signs of what is to come. Then, the progress she had made until that point started to unravel and she progressively regressed. It was a long journey before she was diagnosed with INAD and became the first documented INAD patient in Singapore. Watch Amelia’s sister Amanda as she recounts the memories shared and how she wants to make the rest of the days with her count.
Adopt a Zebra
We are inviting an exclusive group of organizations and individuals to "adopt" one or more zebras by contributing to the development and distribution of highly engaging and impactful educational content about those rare disorders that will collectively reach millions of people around the world.
Email [email protected]Raise the Line Podcast Guests
A Reservoir of Hope Drives Research Into a Rare Brain Disorder - Scott Reich, Co-Founder of Believe in a Cure
“There's a reservoir of hope, energy and optimism many of us have that we may not know about until we're really tested,” says attorney and author Scott Reich. The heavy test he and his wife Ilissa have endured for the past three years started when their infant son Eli was diagnosed with a rare brain disorder called FOXG1 Syndrome which causes severe seizures and impedes normal movement, speech and sleep, among other problems. Scott vividly recalls the moment when Eli’s doctor explained there was no hope for treatments or a cure. “I just felt an instantaneous gravitational pull that despite the intense emotion that overtook us in the doctor's office, we were going to do something about it.” That “something” includes starting the nonprofit foundation Believe in a Cure which is currently funding over fifty research and development projects worldwide focused on this pernicious disorder. Join us for this enlightening conversation with host Shiv Gaglani to learn about the multi-pronged strategy scientists are pursuing to overcome the mutation in this so-called master gene, the promising results emerging from preclinical programs and the supportive global community Believe in a Cure has helped create for the hundreds of other families fighting the same battle. Mentioned in this episode: https://www.webelieveinacure.org
The Power of a Rare Disease Community - Luke Rosen, Founder of KIF1A.org
“You know, it's easy to say that default answer that everything's okay, but it's really not. She's lost a lot of her vision, she's got hundreds of seizures at night, and she's having difficulty walking,” shares Luke Rosen about his eight-year-old daughter Susannah. She was born with KIF1A-associated neurological disorder -- or KAND -- a rare, degenerative genetic disease for which there is currently no cure or treatment. On this episode of Raise the Line, Luke talks about how he and his wife Sally summoned the strength to move beyond their family’s own challenges to create KIF1A.org which is working to rapidly discover a treatment for all patients and families affected by this devastating disorder, but to also create a supportive community. “Five years later, we have approximately four hundred families around the world that we've identified and there's not one family I know that doesn't play a significant role in what we do.” Thanks to that global community and partnerships with the Chan Zuckerberg Initiative, Columbia University, the n-Lorem Foundation, the Jackson Laboratory and many other organizations, there’s reason to be hopeful, as Luke shares with host Shiv Gaglani. “Susannah has been fortunate enough to just have started an experimental treatment. We really are on the brink of several things for, hopefully, the entire community.” Tune in for a candid and moving look at how families and supportive scientists and healthcare providers are mobilizing to fight back against a rare and pernicious threat to their children. Mentioned in this episode: https://www.kif1a.org/
‘The Worst Disease You’ve Never Heard Of’ - Brett Kopelan, Executive Director of debra of America
Imagine 60% of your skin having open wounds every day. That's the grim reality of those with Epidermolysis Bullosa, or EB, a rare genetic connective tissue disorder which results in blisters and tears to the skin being created from even minor contact or friction. The range of complications this causes for almost every normal activity – from eating to bathing to sleeping – is daunting, leading our guest today, Brett Kopelan, to call EB “the worst disease you’ve never heard of.” He should know. Brett and his wife have the equivalent of fulltime jobs just managing daily care for their daughter Rafi, who suffers from a severe form of EB. Advocating for Rafi led to Brett becoming Executive Director of debra of America, the only national not-for-profit providing all-inclusive support for patients battling the disease. In this revealing discussion with host Shiv Gaglani, Brett opens up about his frustrations with the health insurance system, the challenges of raising money for rare diseases, and why he feels there is a need for more doctors to specialize in rare disorders for patients over twenty-three. Brett shares some positive news as well about several promising gene therapies on the horizon. “I can say that the past two years has really been the first time that I've felt I'm working for my child's life, not for beyond her. So that's an exciting thing.”
An Innovative Approach to Funding Rare Disease Research
Heather Fullmer will never forget seeing her nursing license for the first time and realizing the date of issuance was the same as her son Michael’s birthday. She had spent the week since delivering him in the NICU as Michael’s struggle with the rare, life-limiting skin disorder Epidermolysis Bullosa began. “It was a surreal moment. I became a nurse professionally, and in my personal life on the exact same day,” she tells host Shiv Gaglani. EB is a pernicious disease which causes skin to tear at the slightest touch, with resulting wounds that don't heal. “If I had to sum up Michael's day,” says her husband, Ryan Fullmer, “it's probably fear and pain. We still haven't been desensitized to his screams, or the disappointment on his face from not being able to enjoy the day-to-day things that he sees his friends do.” In this inspiring episode of Raise the Line, you’ll learn how the Fullmers rose above their all-consuming struggles to care for Michael to forge a new approach to rare disease research with the support of Pearl Jam singer Eddie Vedder and his wife, Jill. The resulting EB Research Partnership raises millions of dollars a year to fuel promising efforts to find a cure for EB and, ultimately, other rare diseases. Tune in to learn how the “venture philanthropy” model they use differs from typical investing, and hear about important fundraising events for EB including Venture Into Cures hosted by Spiderman actor Tom Holland. And be sure to stay tuned to hear their advice to medical providers on the importance of building rapport with patient families, and taking an interdisciplinary approach to treating rare disorders.
Using AI to Solve Medical Mysteries and Spur Rare Disease Treatments – Dr. Matthew Might, Kaul Precision Medicine Institute at the University of Alabama at Birmingham
“It's still early days in the application of all this technology relative to its long-term potential, but even so, it's already producing some big wins for patients,” says Dr. Matthew Might, whose impactful career in computer science and medicine has been shaped by the rare disease odyssey of one of his children. His son, Bertrand, was the first person in the world diagnosed with a particular form of NGLY1 deficiency, a neurogenic degenerative condition that causes developmental delays, seizures and frequent infections. Unfortunately, Bertrand succumbed to an infection at the age of twelve in 2020 but by that time, Dr. Might's work in precision medicine had led to crucial discoveries for dozens of children with NGLY1 deficiency. Now, as director of the Hugh Kaul Institute of Precision Medicine at the University of Alabama at Birmingham, he uses an AI-based system programmed to connect the dots in extensive databases of medical literature to make inferences about potential therapies for uncommon diseases. Check out this fascinating conversation with host Shiv Gaglani about the promise of this approach, the challenges in repurposing drugs and conducting clinical trials in the rare disease community, the need for more genetic counselors and Dr. Might’s work on President Obama’s Precision Medicine Initiative, which he calls the Rosetta stone of the human genome. Mentioned in this episode: https://www.uab.edu/medicine/pmi/
New Hope for Patients with Black Bone Disease - Nick Sireau, CEO and Chair of Trustees at the AKU Society
Just a few weeks ago we shared the story of John Crowley’s family and their battle with Pompe disease on Raise the Line, and in this episode, we’re honored to share another remarkable story of a rare disease parent and the contributions they've made beyond their efforts to help their own loved ones. Nick Sireau is the CEO and Chair of Trustees of the AKU Society, an award-winning patient group that helps people with Alkaptonuria (AKU), sometimes referred to as black bone disease, a rare disorder affecting both of his children. In AKU patients, a build-up of acid in the body leads to a painful breakdown of bones and joints, and serious heart complications. Nick’s tireless efforts have led to some extraordinary results, including making the very first treatment for AKU available. Nick is also Founder and Chair of Orchard, a medical charity that works to develop new and better treatments for obsessive-compulsive disorder (OCD), a misunderstood mental illness that Nick has battled for many years. Join host Shiv Gaglani for a fascinating look at the impact one parent has had on the welfare of so many, and for advice for those weighing career options in the healthcare field. “There are hundreds, if not thousands of these ultra-rare diseases that just nobody is touching.”
Making Rare Disease Treatments A Priority - John Crowley, Executive Chairman at Amicus Therapeutics
It was on a Friday the 13th in late winter 1997 when John Crowley’s life changed forever. John and his wife Aileen had been noticing concerning symptoms in their infant daughter Megan for several months, and after a few rounds of testing she was diagnosed with a rare form of muscular dystrophy known as Pompe disease. Doctors told the Crowleys their daughter likely only had a few years to live, an outlook that ultimately sparked John’s remarkable efforts to find treatments for Megan as well as her younger brother Patrick, who was also struck with Pompe. His family’s amazing journey was the inspiration for the movie Extraordinary Measures starring Brendan Fraser and Harrison Ford. Join host Shiv Gaglani in this captivating and inspiring conversation with Crowley, now the Executive Chairman at Amicus Therapeutics, to learn about how he and his team are shedding light on some of the rarest diseases in the world, the promise of new technology in genetics, and the need for an Operation Warp Speed to develop rare disease treatments.
Chasing Lifesaving Cures for Himself and Others - Dr. David Fajgenbaum, President of the Castleman Disease Collaborative Network
“I knew I wasn't going to survive unless I found a drug that could save my life,” says Dr. David Fajgenbaum, who has almost died five times from the rare disorder idiopathic multicentric Castleman disease, which he developed while in medical school. Now a physician and assistant professor at the University of Pennsylvania, Fajgenbaum has led research efforts into a cure for Castleman, discovering a drug that has kept him disease-free for eight years and is helping other patients. As he continues pursuing new therapies for Castleman, Fajgenbaum is also spearheading an effort to create a system for identifying alternate uses for existing drugs, something which could benefit millions in the rare disease community and beyond. “One of my favorite examples is tocilizumab, which was made for Castleman in the 1990’s and is now the first drug you'll receive if you're admitted to the ICU with COVID,” he tells host Shiv Gaglani. The non-profit effort is being announced this month at a Clinton Global Initiative meeting. Don’t miss this deeply inspiring conversation with many lessons on the importance of collaboration, laughter and hope, and the perspective gained from feeling like you are living on borrowed time.
Overcoming a One-in-A-Million Disease: Akiva Zablocki, President of the Hyper IgM Foundation
When Akiva Zablocki found out his infant son Idan had a one-in-a-million immune disorder, he and his wife Amanda were terribly worried, as all parents would be. But unlike most parents of children with rare diseases, Akiva could draw on the expertise in navigating the healthcare system he gathered when successfully overcoming his own rare and scary ordeal with a brain stem tumor. Thanks to that know-how, his wife’s background in healthcare law, some amazing clinicians, the couple’s tenacity, and Idan’s spirit, he is now a healthy ten-year-old enjoying summer camp. On this episode of Raise the Line, Akiva shares the remarkable details of his family’s journey with host Shiv Gaglani, and tells the story of how the Hyper IgM Foundation, which the Zablockis launched, is helping patients all over the world. Be sure to stay tuned for some heartfelt advice for current and future providers as they encounter patients and families with rare diseases.
What Rare Disease Patients and Families Need From Clinicians: Philippe Pakter, Rare Disease Parent
“It's a strange odyssey being a rare disease parent. It sort of forces you to question everything about life,” says Philippe Pakter, whose daughter Lysiane was born with Pierre Robin Sequence, a condition that impedes normal breathing and feeding. In this compelling interview with Shiv Gaglani, he shares the wrenching details of his family’s daunting emotional, medical and legal journey. “It's tough, but you just have to keep going and from the hardship can potentially come very beautiful things.” Among the brighter spots of their story are finding a non-surgical treatment that helped with part of Lysiane’s condition, and connecting with a network of dedicated clinicians focused on improving treatments for Pierre Robin Sequence. Don’t miss this opportunity to hear hard won wisdom about ways clinicians can approach their work to be mindful of rare diseases and how they can be a resource for patients and families who are often desperate for answers. Pakter is a great example of how well-informed rare disease family members are, and why clinicians should listen closely to what they have to say.
Building Awareness and Communities Around Rare Disorders – Dr. Edward Neilan and Rebecca Aune of NORD
In medical school, when taught about differential diagnoses, students are often taught, "if you hear hoofbeats, think horses, not zebras” says Rebecca Aune, the Director of Education Programs at National Organization for Rare Disorders (NORD). NORD, she says, represents twenty-five million American zebras living with rare diseases every day, many of whom undergo a deeply frustrating and isolating odyssey as they seek an accurate diagnosis. The reasons for this are numerous, Dr. Edward Neilan, the organization’s Chief Medical and Scientific Officer, tells host Michael Carrese. But NORD is working to address many of these problems at once, at the level of the patient, the doctor, the research, and the medical system as a whole. Tune in to hear how at 1980s law dramatically increased research into rare disorders, how the human genome project has revolutionized their treatment, and what a future of better diagnostics could look like.
Advocating for Patients with Rare Disorders – Suzanne Peek, President of the National MALS Foundation
One night, Suzanne Peek was awoken by her son who thought he was having a heart attack. That began a drawn-out ordeal of misdiagnoses and ER visits until he was properly diagnosed with Median Arcuate Ligament Syndrome, a rare disorder which results from a constriction of blood flow to organs in the upper abdomen. Fortunately, Peeks had an easier time than most navigating our complicated medical system due to many years practicing as a certified massage therapist. As she worked diligently to get her son the appropriate treatment, she formed relationships with others in the MALS community. “Some of these people have had the condition for five years, ten years or longer because it was misdiagnosed,” she tells host Dr. Rishi Desai. She now leads the National MALS Foundation, which seeks to spread awareness among medical professionals about rare disorders. Tune in to hear how patient advocacy groups organize, what COVID has meant for people with rare disorders, and how to mitigate the forces that can hinder an accurate diagnosis.
The Answer Is At the Bedside - Dr. Thomas Rebbecchi, Medical Advisor, National Board of Medical Examiners
“Often, the real answer is at the bedside,” says Dr. Thomas Rebbecchi, who has worked as an ER doctor at Cooper Hospital in Camden, New Jersey for 23 years. “If you ask the right questions to people, they're going to tell you directly or indirectly what's going on with them.” Dr. Rebbecchi's educational mission is to teach students to focus less exclusively on technology and take the extra time for compassionate interaction with patients. In addition to his role on the National Board of Medical Examiners, Dr. Rebbecchi is also a scientific advisory board member at the Glut1 Deficiency Foundation. In this episode of Raise the Line, he speaks with Dr. Rishi Desai about his family's journey to discover their son’s diagnosis through genetic testing, improved COVID outcomes, and the need for better mental healthcare, especially as a result of the mounting psychological effects of pandemic life.
Solving the Rare Disease Equation - Dr. Alaa Hamed, Global Head of Medical Affairs, Rare Diseases at Sanofi
As we continue our focus on rare diseases on Raise the Line, we’re delighted to be joined by Dr. Alaa Hamed, Global Head of Medical Affairs, Rare Diseases at Sanofi, one of the leading pharmaceutical companies in the world. Although most well known for their focus on lysosomal storage disorders including Gaucher and Pompe disease, Dr. Hamed and his team at Sanofi are also working in adjacent disease spaces depending on the systems affected. “For example, the lysosome in Pompe disease affects the neuromuscular tissues, so we have a neuromuscular disorder interest as well.” In their discussion, Dr. Hamed and host Shiv Gaglani also touch on the efforts Sanofi is making to shorten the diagnostic odyssey for rare disease patients, including building more disease awareness and greater global infrastructure. “From the inception, we thought that having universal access is a key part of the rare disease equation.” You’ll also learn about the challenges of drug development, the importance of maintaining policy incentives to focus on rare diseases, and where innovation is needed most to advance outcomes for patients. Mentioned in this episode: https://www.sanofi.com/
Using Rare Disease Research to Unlock Common Diseases - Matt Wilsey, CEO of Grace Science
Grace Wilsey was born with a deadly genetic mutation so rare that at the time of her birth, it had never been identified in another person. The disorder, NGLY1 deficiency, causes a wide range of physical and cognitive problems such as muscle weakness, speech deficiencies and seizures. “The NGLY1 gene is in every cell in the body. It's almost like a firefighter that's on call, ready to go when there's a problem. Without it, the cell just kind of overwhelms itself with stress and starts to die,” explains Matt Wilsey, Grace’s father, who joins us on this episode of Raise the Line to talk about the daunting journey he and his family have been on since Grace was born in 2009. That journey involves starting a foundation and biotech company that’s fueling research on NGLY1 deficiency which could have an impact on more common diseases such as cancer, diabetes and Parkinson's. The researchers the Grace Science Foundation supports include several Nobel laureates whose work is providing reason for optimism. In fact, Matt says they hope to start a clinical trial in early 2023 to study a gene therapy that has shown promise in animal testing. Listen to this fascinating conversation with host Shiv Gaglani to learn about the race with time to unlock the secrets to a gene that is fundamental to human life. Mentioned in this episode: https://gracescience.org/
Perspectives on Improving the Rare Disease Patient Journey - Dr. Maria Pfrommer, Director of Nursing Education at Osmosis and her husband, Jack Pfrommer
Regular listeners to Raise the Line know so-called "rare diseases" aren't really rare when you consider up to thirty million Americans are affected by them directly. That makes it likely you know someone who is impacted, or you know one of their colleagues, friends or loved ones. That fact has hit home at Osmosis over the last few months as we've started planning a major focus on rare diseases for 2023, which we're calling The Year of the Zebra. Several teammates have come forward to tell us their rare disease stories and we'll be sharing some of those on the podcast in the coming months. First up is our Director of Nursing Education Dr. Maria Pfrommer and her husband, Jack, who join host Shiv Gaglani to offer insights into the diagnosis and treatment journey they’ve been on to deal with Jack’s battle with retroperitoneal fibrosis, an inflammatory condition which can cause obstructions in the urinary tract. While Maria’s vast clinical knowledge and experience in healthcare systems has obviously been helpful, it was still a struggle to get the right diagnosis and treatment due to limited experience among healthcare professionals with rare conditions. “From my perspective, I really think that we need to learn more about rare disorders from every level of care,” she says. Tune in for great real-world advice for healthcare professionals dealing with rare disease patients including the importance of listening to the patient, understanding their whole life picture and focusing on transitions of care.
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Thank you for signing up for the Year of the Zebra weekly newsletter! By signing up you are helping us to achieve our ambitious goal of educating millions about rare diseases to help accelerate the diagnosis and treatment.
Sign Up for the Year of the Zebra Weekly Newsletter
Sign Up for the Year of the Zebra Newsletter
Fill out the form below to sign up for the Year of the Zebra weekly newsletter to learn about a new rare disease every week.
Successful submission!
Thank you for signing up for the Year of the Zebra weekly newsletter! By signing up you are helping us to achieve our ambitious goal of educating millions about rare diseases to help accelerate the diagnosis and treatment.
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