Rare Disease Day Heroes 2024
Mix Talent is recognizing Rare Disease Day 2024 by celebrating rare heroes from across the country whose initiative, advocacy, and perseverance are making a difference in the lives of others.
Below, you can read about why our heroes were inspired to take action and how they are working to raise awareness and support those who are living with a rare disease and those who are researching treatments and solutions.
No one really imagines their loved ones or family will be impacted by rare disease. It’s absolutely life-changing and impacts every facet of family life. At age 5, my daughter, Iris, was diagnosed with juvenile GM1, type 2B. Soon she will be 16 years old.
We founded Cure GM1 in Iris’ honor in April of 2015. It is the only 501(c)(3) nonprofit entirely dedicated to GM1 gangliosidosis. I have a full-time job and I run the foundation.
I’m incredibly passionate about working towards possible treatments for GM1. There are many ways to help people throughout the rare disease journey, but in the long term, I personally believe that approved treatment and newborn screening are the most impactful ways to change lives.
Since there are other nonprofits for trips to Disney, government support for equipment, and organizations doing great work for patient communities that I deeply respect – like EveryLife Foundation, Global Genes, and NORD – we believe treatment should be our focus.
I also believe that there needs to be a shift in FDA’s approaches to rare diseases, such as embracing the Accelerated Approval pathway and approvals based on biomarkers. I believe that, for fatal diseases like GM1, placebo-controlled trials should be phased out, especially the notion of sham brain surgeries.
And for anyone whose life is touched by rare disease: please engage. Take action. Find a way to help, even in small ways. Consider helping others. It is overwhelming to be able to navigate your own life with rare disease, but if you can find a way to advocate and contribute to the bigger picture, it is truly meaningful and critically important. Advocacy can be therapeutic and help bring a positive to a negative.
My drive to help others and my passion for medicine shaped my path from an early age, but my journey into the uncharted territories of rare diseases started in 2009 when I first encountered Huntington’s Disease. Since then, my commitment to aiding those affected by any rare disease has only grown.
In my role as VP of Commercial for a therapeutics company helping potentially life-changing rare disease therapies reach the patients that need them, I feel humbled and honored every day to be of service to the rare disease community. Rare diseases present numerous challenges, yet the opportunity to make a meaningful impact on one person, their family, and to instill hope in many others is beyond words.
I recognize the privilege of working with these communities, striving to create positive impacts where possible. That’s why I often inquire about someone’s purpose – their “why” – because a sense of purpose can serve as a powerful motivator and a guiding light in different facets of life. Each person holds a unique purpose, and I encourage drawing inspiration from our individuality.
But rare disease is also a shared journey where every effort contributes to the overall progress and well-being of those affected by rare diseases. Recognizing the unique contributions of non-profit organizations – like NNPDF for Niemann-pick Disease Type C (NPC) and Connecting Families for Urea Cycle Disorder (UCD) – and fostering a collaborative spirit can lead to a more comprehensive and impactful support network. By working together, sharing resources, and celebrating each other’s achievements, the rare disease community can amplify its collective voice and make a more significant impact in advocacy, research, and support initiatives.
For those caring for/living with rare diseases – to those bravely navigating the challenges of rare diseases: thank you for generously sharing your stories and guiding us on how we can support you. Your strength propels me forward, reinforcing my commitment to contribute and make a positive impact.
For those working in rare diseases: listen intently, stand steadfast in the moment, communicate with conviction, foster inclusivity, and champion relentlessly what’s right for the patient. Advocate boldly, set and uphold the highest standards in your delivery, and propel all these profound insights into the world.
Working in this space is not just a privilege – it’s an honor. Building awareness and inviting others to join this journey, fostering hope and enhancing lives – these experiences are truly invaluable to me.
My first child, Lucas, had some early developmental challenges, and in 2009 was diagnosed with Menkes Syndrome. Menkes Syndrome is a mutation of the ATP7A gene that does not allow proper metabolism of copper and primarily affects male infants. Unlike most rare diseases, Menkes does have a treatment – but it must begin in the first 10-20 days of life to be effective. Lucas was diagnosed at the age of one.
After his diagnosis, I grew passionate about improving newborn screening and sequencing so these boys can go from very short lives of chronic difficulties to much longer lives with more typical health. This passion led to my volunteer awareness work, then to making rare disease documentaries and co-founding The DISORDER Channel, and then to writing for Courageous Parents Network, changing my career, and joining Global Genes full time.
Early on, before getting a diagnosis and in the time just after a diagnosis you will be flooded with bad news and dire prognoses. You will feel isolated, feeling both like you’re on the outside of what our medical system is typically built to handle and also isolated from some family and friends who may not relate to your experience.
But I want people to know there will also be joy. It can seem impossible to imagine, but most of us discover that joy can co-exist alongside pain, grief, anger, and all the tough stuff that comes with the challenges of rare disease. That is why I made the short film “Life After Diagnosis Day” – to show several examples of what rare disease families did after they got past the initial impact.
Helping those facing rare disease to share their stories is also why we founded The DISORDER Channel. The DISORDER Channel is a free streaming TV channel on Roku and FireTV devices dedicated exclusively to films and videos telling the patient experience of rare diseases. These patient stories help people see they are not alone and find hope, guiding them to realizations I wish I had sooner and connecting them to their best new allies.
That’s my advice to anyone facing a rare disease diagnosis: find your people. If you have a diagnosis, this is one of the silver linings to your bad news: knowing it by name means you know who your people are. If you have XYZ disease, there is likely an online community of others who do as well. These will be your guides, your allies, and often some of your new closest friends.
If such a community does not already exist, consider building one. Also, make use of umbrella organizations that are concerned with rare disease families across any and all diagnoses. These include: Global Genes, EveryLife Foundation, Courageous Parents Network, The LibRAREy, EuroDis, Canadian Organization for Rare Disorders, and NORD.
After Lucas’ diagnosis, we were grateful to discover The Menkes Foundation. With this organization, Jamie and Drew Eckman and their team have moved mountains for Menkes Syndrome, raising awareness, advocating for newborn sequencing, and sponsoring and participating in conferences on copper research.
I’m also pleased to work fulltime as Director of Community Engagement for Global Genes, which provides resources to help those facing any of the 10,000 rare diseases and to empower advocates to reduce the challenges of those conditions.
There’s never a good time to have a rare disease like Menkes Syndrome, but there has also never been a better time to be working towards treatments and cures. As pharma makes rare disease more of their focus, as technology improves and becomes less cost-prohibitive, and as social media empowers patient voices to allow connections and collaborations, we’re beginning to see what was so long thought impossible growing more likely.
I was diagnosed with Sickle Cell disease when I was just six months old, so I’ve never known life without it. While this condition has significantly impacted my life – my relationships, education, and work – in both negative and positive ways, it’s also taught me to advocate for myself and to navigate accessibility issues, which has been a valuable part of my journey.
I’m a disability advocate and a filmmaker, which is why I helped found Slamdance Unstoppable, a showcase of films made by filmmakers with visible and non-visible disabilities. I have a strong passion for storytelling, especially when it comes to showcasing positive representation for the Sickle Cell community, people with disabilities, and individuals of color.
Additionally, I am deeply passionate about my family and advocating for justice, particularly in healthcare, where I prioritize fair and equitable treatment for all. That’s why I am particularly enthusiastic about the recent FDA approval of new stem cell research for Sickle Cell disease.
In my experience, many of the medications currently available for Sickle Cell patients were initially developed for cancer patients or hematology treatments. Having medications specifically designed for the Sickle Cell community signifies a growing recognition of our unique needs and the importance of representation. I hope that this progress will lead us closer to finding a cure for this condition.
There are a number of fantastic nonprofit organizations dedicated to supporting Sickle Cell disease, but my favorite is the Advancing Sickle Cell Advocacy Project, also known as ASAP. They offer advocacy services to help individuals and families address their needs within schools and hospitals, and advocate for policy changes.
ASAP is actively involved in education, community engagement, support programs, workshops, seminars, and building relationships with medical professionals to raise awareness. I have a close working relationship with them, and they have been a significant supporter of my work. Currently, they are organizing a screening event for Black History Month featuring my latest short film, “Uncomplicated,” which is a love letter to the Sickle Cell community.
If I could offer some advice to those living with Sickle Cell disease, it would be that it’s crucial to advocate for yourself and maintain open communication with your medical team. Your pain and needs are valid, so don’t hesitate to voice them and persist in seeking the care you require.
Also, while living with this condition comes with challenges, it’s essential to stay focused on your dreams and aspirations. Don’t feel pressured to conform to others’ expectations; instead, navigate the world in a way that suits your comfort and advocate for accessibility to make that possible.
Dr. Clarisse Rogat
I have been a researcher my whole life, which is how I met my husband and joined his wonderful family. This is where I met Sophie, soon to be my niece and already a teenager at the time, who was affected by Ehlers-Danlos syndrome (EDS). Sophie was one of the smartest, funniest, and strongest people I’d ever met. We never really talked about her disease because, I believe, she did not want to be defined by it. She was a fighter who enjoyed every minute of her life.
The world of rare disease crossed my path again when I had the opportunity to join Abeona Therapeutics. Abeona is a small biopharmaceutical company that develops gene and cell therapies for life-threatening rare genetic diseases, including a rare disease that, at the time, I had never heard of before: Epidermolysis Bullosa (EB) – a barbarous word for a terrible disease.
My initial exposure to EB was through scientific articles, where the pictures already gave you the sense of the constant pain patients were going through. But then I met real patients – many of them children – and I was able to realize the true extent of their daily suffering and burden. Despite everything, these patients remained amazingly positive, resilient, and determined to lead a life as normal as possible with love and laughter. Their strength is remarkable and inspiring.
And now, I am so passionate about my job because it is about helping – in a concrete, meaningful, and impactful way – these patients. Most people have never heard of EB before, but no one should be left out, especially children. As I was closely involved in our therapy’s clinical trial, I cherished the feeling that I was doing something to positively impact these patients, bringing instant but long-term relief.
Being a parent myself, I see my kids in these kids with EB, and can only imagine the constant fight for their family as they try to alleviate suffering, navigate a very complex healthcare system, and lead a life as normal as possible despite the physical, mental, and financial loads. At Abeona, I am working as if my own kid’s well-being depends on it.
There’s plenty to be excited about around rare disease. The development of safer, more efficient, and more accessible gene therapy, combined with better communication from patient advocacy groups and associations, leads to an acceleration of the research programs benefiting rare diseases.
Programs based on collaborative research make that research more efficient. This includes programs like the Rare Diseases Clinical Research Network (RDCRN) – an NCATS-led program that partners with nine NIH Institutes and Centers or FDA – which interacts directly with the National Organization for Rare Disorders (NORD) to host Patient Listening Sessions.
Also, more than 40 new drug products for rare diseases were approved in 2023, five of which were gene or cell therapies. This is very exciting and carries a lot of hope for the future (Source: 2023 Orphan Drugs: PDUFA Dates and FDA Approvals).
There is also hope and support to be found in non-profit organizations. These are two that I particularly like:
- DEBRA, whose mission is mainly focused on supporting patients afflicted by EB and their families at many levels (financially, emotionally, education, advocacy), and
- EBRP, which is more oriented on fundraising to support the research to find treatment for EB.
Both are great advocates to raise awareness and they are very active with patients.
I am not sure I am entitled to give any advice to those with rare diseases, but if I would, I would tell the patients and their families to stay hopeful. There is a big community out there of healthcare providers, researchers, and patient advocacy groups that care very much and work very hard to help and find treatments.
For the ones working on rare diseases, I would say to always remember you are working for someone with feelings who could be one of your loved ones. Therefore, naturally, you must always give your best effort, and when you do, you’ll also get the satisfaction that you did something that counted in this world.
Adora Ndu, PharmD, JD
My journey in rare diseases is both professional and personal.
When I began working in rare diseases seven years ago, I was moved by the mission-driven approach and urgency of many of the scientists and researchers in the field. Given that I had spent most of my career at the Food and Drug Administration (FDA), where I was also a commissioned officer in the United States Public Health Service, it was important to me that my work continue to have a mission-focused impact on the health of vulnerable communities.
I wasn’t working in rare diseases when I lost my father to a rare cancer 19 years ago, so I didn’t fully appreciate the challenges associated with treating a rare condition with a very poor prognosis. Experiencing and supporting my father in the last year of his life, watching my mother care for him and face significant challenges navigating the healthcare system, and finally watching him slip away, will stay with me as a constant reminder of why improvements are needed in pathways for drug approval and access for patients.
I am excited to see the advancements in science that enable developers to target the root cause of genetic diseases. Additionally, I am also excited about the increased collaboration across advocacy groups, FDA, and drug developers like BridgeBio, given how critical it is to ensure the voice of patients are incorporated in both drug development and regulatory decisions.
At BridgeBio, our first core value is to “put patients first.” This core value is foundational to how we approach drug development and the lengths we take to advance treatment options for people with unmet medical needs. We currently have a broad portfolio of investigational products under development for several conditions including transthyretin amyloid cardiomyopathy (ATTR-CM), limb-girdle muscular dystrophy type 2I/R9, achondroplasia, hypochondroplasia, and autosomal dominant hypocalcemia type 1 (ADH1), and in each we are working towards making a meaningful impact in disease management.
An important aspect of making treatments available for people with rare diseases is ensuring that we have clear and predictable regulatory pathways – this is where I have spent most of my time. In addition to advancing treatments collaboratively with our cross-functional teams, my goal as BridgeBio’s Chief Regulatory Officer is to enable clearer and more predictable regulatory paths to enable efficient development of treatments for rare diseases to better serve rare disease communities.
That said, I feel that I am far from a rare disease hero, and would like to take this opportunity to shine light on the true heroes who have dedicated lives to making a change: the people I have met who live with a rare disease, the people who have made it their life’s work to advocate for others, the mothers and fathers caring for their children battling rare diseases, the patient advocates that work tirelessly to give voice to those that otherwise would not have one, and countless others. These are the true rare disease heroes and I am thankful for their tireless effort and commitment.