NORD Rare Disease Day

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It is difficult to define what constitutes a “rare disease” because the definition varies broadly, usually by country or region. In general, a rare disease is any disease that affects a very small percentage of a given population. An estimated 72% of rare diseases are genetic, or congenital, frequently affecting people throughout their lives (rarediseaseday.org); many of these diseases present at birth or in infancy and an estimated 30% of children with rare diseases will not live to see their fifth birthday (SIOP Europe). It is estimated that between 3.5-5.9% of the world population will be affected by a rare disease during the course of their lives (rarediseaseday.org). Rare diseases are usually chronic, disabling, progressive and degenerative, as well as frequently life-threatening: Furthermore, the very nature of rare disease is isolating, necessarily. Rare Disease Day and its backing organizations aim to acknowledge these points as realities by addressing them on the global stage: By doing this, people fighting the same rare diseases can be brought together from diverse geopolitical backgrounds to fight toward empowerment and equity as a unified and powerful force.

Rare Disease Awareness Day is integral not only for raising awareness about rare diseases but also for bringing all of humanity together for the improvement of hundreds of millions of lives. I personally struggle with several potentially life-threatening rare diseases and I agree very much with NORD that although we are “rare alone,” we are an unstoppable force when we all work together. You can find much more information about Rare Disease Awareness Month and Rare Disease Day by visiting rarediseaseday.org. You can also visit NORD at rarediseases.org to find additional resources including a searchable rare disease database. Information about the 16 aforementioned “Rare Disease Community Heroes” is also featured on the Rare Disease Day website where you can also find remote or local events leading up to and on Rare Disease Day. This website features an immense array of resources, including information regarding the 2030 UN Rare Disease Health Initiative and even information about how the public and private sectors as well as individuals can light their buildings and homes on February 28 to show their own colors and join together in both strength and solidarity in this important global movement.

Community Voices

“Alone we are rare. Together we are strong. ” This is the trademark for the National Organization for Rare Disorders, Inc. (NORD), US Sponsor of International Rare Disease Day. NORD is one of over 66 National Alliances (rare disease patient advocacy organizations) representing over 100 countries and regions all over the world, referred to as “Rare Disease Day Partners.” The month of February was designated “Rare Disease Awareness Month” by the European advocacy group “EURODIS” in 2008; that year, the first International Rare Disease Day was held on February 29. EURODIS acts as the central coordinator among the “Rare Disease Day Partners,” patients with rare diseases, and the global community at large to create unified messages and visual materials to raise awareness for rare diseases and the individuals who live with them. “Rare Disease Day” is a recognized day created to bring awareness and subsequent empowerment, community, and equity to over 300 million people worldwide fighting any of approximately 6,000 known rare diseases. This February marks the 15th “Rare Disease Awareness Month,” and February 28 will be the 15th annual “Rare Disease Day.” Ultimately, the objectives of Rare Disease Day are to ensure equal access to treatment and healthcare, to create more equitable social opportunities for those fighting rare diseases (higher education, jobs, etc.), and to simultaneously reduce stigmatization through social inclusion. Furthermore, through raising awareness, EURODIS and its Rare Disease Day Partners aim to find means to fund research for more effective and life-saving therapies as well as to minimize the time it takes to diagnose a person with any given rare disease. 
 
“Rare Disease Day” utilizes the narratives of “real life Rare Disease” “heroes” to identify common challenges faced by those with rare diseases to connect patients as well as their caregivers into a strengthened global community. For 2022, there are 16 “hero” community members from around the world who have agreed to share their stories with the world for the purposes of rare disease advocacy (rarediseadeday.org). Every Rare Disease Day bas a specific “Call to Action;” for 2022, the Call to Action has been named “Share Your Colours;” a means of representing individuals with rare diseases utilizing vibrant colors to express positivity, strength, and diversity of the individuals who make up the 300 million rare disease patients worldwide. By utilizing art and simple creative images, this “Rare Disease Day” will become accessible to many more people throughout the world.

Please read Part Two!

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21 Tattoos Inspired By Rare Disease

If you’re part of the rare disease community, you share a space with people who represent over 7,000 rare diseases and counting. Some conditions are more visible, others not so much. To help raise awareness and create visibility, groups often design ribbons or symbols, or select a color to help represent their condition and cause. For many adults and families living with rare conditions, these symbols and colors are worn proudly throughout the year – some even tattoo them to serve as a constant reminder of the rare disease journey: struggle, perseverance and hope. This Rare Disease Day, The Mighty and the National Organization for Rare Disorders, a non-profit organization supporting individuals and families facing rare conditions through education, patient advocacy and research, asked each of their communities to share photos and the meaning behind their rare disease tattoos. These tattoos show that rare disease impacts all of us in some way, whether it’s our friend, our sibling, or our child fighting through the impossible each day. Here’s some photos of hope and inspiration: 1. “I designed this tattoo for my family. My daughter Kelly has an ultra rare genetic disorder called PACS1 syndrome. Kelly is my ‘turtle,’ slow and steady, and always moving forward. The rose is for my other daughter, her twin Sabrina Rose. The big green leaf in the shape of a heart is for my husband, Lief, and the turquoise bow on the turtle is the awareness color for PACS1.” – Elizabeth B. 2. “Over my five-year journey with Hashimoto’s encephalopathy (HE) and having witnessed my most difficult times, my family started calling me ‘Wonder Woman’ for my strength to fight on and overcome obstacles whenever this disease tries to knock me down. He has given me an appreciation for life and has taught me to live life in the moment and experience all you can, while you still can. A year ago, in the spirit of living life to the fullest, I decided to get my first tattoo — a Wonder Woman symbol, on my neck. My tattoo is a permanent reminder to myself to always live up to what the Wonder Woman name stands for no matter what Hashimoto’s encephalopathy or life throws at me.” —Maddy B. 3. “I got this tattoo for two of my daughters who have Usher syndrome. I wanted something more than just a plain support ribbon and liked that I could incorporate it into a heart to symbolize the love that I have for them.” – Lisa L. 4. “My wife just underwent a bone marrow transplant (BMT) and these are two stem cells from under a microscope. The letters represent ‘a love for eternity’ and honor my wife’s battle against aplastic anemia and paroxysmal nocturnal hemoglobinuria (PNH).” – David H. 5. “This is my husband and our middle son Zephyr. He was diagnosed with food protein induced enterocolitis syndrome (FPIEs) and required a feeding tube for the first six years of his life. Zephyr is now 8 and he is two years in the clear now. His button was a huge part of our lives. There was lots of learning; we even started a support group for kids and parents with feeding tubes in Australia.” – Kate A. 6. “My 14-month old son, Bryce, passed away from Krabbe disease. Bryce was the face behind Senate Bill 41 in Indiana that will require all Hoosier babies to be tested for Krabbe, Pompei disease and Hurlers syndrome. We helped to raise more than $70,000 for many charitable organizations.” – Joel C. 7. “I have two tattoos related to my Ehlers-Danlos syndrome: the phoenix for the rebirth after my diagnosis, and the armored hand embracing a lady’s hand. That symbolizes the support I have from my future husband. Together we’re stronger and can face anything.” – Manon S. 8. “My son has maple syrup urine disease and cystic fibrosis. He’s the only one in the world living with both diseases, so I had to get a zebra! The rest of the tattoo symbolizes our family.” – Ash B. 9. “I have two tattoos for my rare diseases, pars planitis and retinal vasculitis. They help me remember to always keep fighting and remind me that I am a fighter, even on days when I don’t feel like it.” – Jennifer R. 10. “I have cystic fibrosis. This is my favorite tattoo that I have that symbolizes my rare disease.” – Sew C. 11. “I have Noonan syndrome and all my life I’ve been made fun of for being short and ‘different.’ It used to bother me a lot, but as I grew older, it didn’t as much. I got a tattoo of my ribbon to remind me that I am unique and I am strong. Happy Noonan Syndrome Awareness Month from your PTPN11 friend.”  – Mykey B. 12. “I got this as a reminder that no matter how my disease, fibrous dysplasia, changes my appearance, I am still beautiful. ‘Eres bella’ means you’re beautiful.” – Brittany A. 13. “This is a piece that encompasses many of my medical issues. The spoons are for the spoon theory, the marionette represents how my illness makes me feel trapped, and the colors in the skirts are the awareness ribbon colors of some of my conditions. The tattoo artist is Michael Perry.” – Sarah B. 14. “This is the Hebrew phrase for ‘not alone.’ Even though all my conditions are rare, I know I’m not alone in my fight for treatment, research and a cure.” – Amanda D. 15. “My tattoo has the Roman numerals for 15 with the word ‘hope,’ representing the 15th chromosome for Angelman syndrome. There can always be hope for possible ‘cures’ for seizures or communication. This is honor of my son, Cole.” – Jim K. 16. “My daughter has GRIN2B related neurodevelopment disorder. Natalie is represented by the queen bee in the middle since a bee is the mascot of GRIN2B. The flowers around her represent all the beauty and love that surrounds our girl.” – Brittaney C. 17. “This is a piece for my daughter who is diagnosed with a rare genetic mutation of the KIF1A gene. It’s a metal genome coming out of my skin with her name engraved to represent her strength. The denim rare disease ribbon is wrapped around the broken part of the gene to represent the break in the KIF1A gene that carries protein.” – Jordan B. 18. “My son and I are Von-Hippel Lindau (VHL) warriors. The semicolon represents that this diagnosis is not the end. Our story is not over.” – Katie C. 19. “My daughter Valerie Rose passed from alveolar capillary dysplasia (ACD) at 41 days old. It’s a rare lung disease with a nearly 100 percent mortality rate. The only cure currently is a bilateral lung transplant. The emblem at the end of her heartbeat is the ACD emblem.” – Lisa L. 20. “I have idiopathic subglottic stenosis. Scar tissue forms in your trachea and makes your airway narrow. It makes breathing very difficult. Imagine breathing through a coffee stir stick. Just taking a shower or walking to the bathroom is exhausting.” – Becky M. 21. “My rare disease is genetic and is represented here with a ‘broken’ rung on the DNA ladder. My tattoo artist promises to fix it just as soon as medicine can ‘fix’ my DNA.” – Jen J. Do you have a tattoo that symbolizes your rare disease, or your child’s rare disease? Let us know in the comments below.

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Misconceptions About Living With a Rare Disease

On World Rare Disease Day, groups and communities representing over 7,000 rare diseases gather together to unify their messages and support one another. With so many conditions, and new ones continuously being discovered, it’s sometimes hard for others to grasp what it really means to live with a rare condition, or care for someone who’s rare. The Mighty teamed up with the National Organization for Rare Disorders (NORD), a non-profit organization supporting individuals and families facing rare conditions through education, patient advocacy and research, and asked our communities, “What’s one misconception about living with a rare condition?” Their answers show that indeed, there are many who think it’s a much easier path than it is. The struggle to receive access to treatment and care, as well as a knowledgeable medical team is very real. Here’s what they had to say: “One misconception about rare disease is that people think doctors and researchers are lining up to study you, do research and help you – and that doctors will know what to do with you. Nope, nope, and nope. There are no adult outcomes, longevity, or lifespan knowledge for my children’s disorder. We are literally figuring it out as we go along.” – Lindsey C. “When people say, ‘I hope she gets better or I hope she gets healed.” I know it’s very well-meaning, but when you have a genetic disorder, every cell in your body contains your mutation, so that’s just simply not possible. I just smile now; I’ve stopped trying to explain.” – Kristy L. “Some people think that people living with rare diseases have no value, and that we aren’t worth curing.” – Julianna K. “One misconception is that if I don’t make it to a doctor’s appointment, I’m not really sick. Sometimes the symptoms of my rare disease prevent me from making it to the doctor.” – Heather S. “Treatments are not the equivalent to being cured. It is frankly just treatment. I am still fighting. I am still sick. I will need ongoing treatment forever to live as stable a life as possible.” – Mandy F. “There is a misconception that having a rare disease gets easier the longer you have it. In reality, you get more fatigued and behind with your life.” – Patricia C. “Some believe that those who share the same rare disease can be treated the same, but that isn’t the case. What works for one doesn’t work for everyone.” – Angie G. “People that don’t have to live day-to-day with multiple, rare, chronic and degenerative diseases like I do don’t understand that it’s a full-time job, even though I am unable to work. It’s a constant battle juggling multiple doctor’s appointments and trying to keep my symptoms under control. So unless they’ve never walked in my shoes, they have no place to judge me.” – Amelia C. “It seems to me that folks assume rare diseases are ‘covered’ by insurance like any other condition. They are surprised to discover that the medicines I need — the treatments, even the doctors, are as rare as hens’ teeth and six times as expensive.” – Carolle C. “That we don’t have good days where we can pretend to be like everyone else. Just because we are in pain doesn’t mean we don’t enjoy going out with friends, shopping, or being social.” – AnneMarie G. “That the treatment for a much more common disease could also work on a rare disease, even if they only have one symptom in common, but completely different causes.” – Katherine O. “People think that if I’m smiling and seemingly happy, I’m not in pain. They assume I’m ‘all better.’ When in reality, I’m dying on the inside and just want to go back to bed.” – Ali K. “Some think that I should be better after all the doctor’s visits. It’s not easy to treat something that even your physicians don’t fully understand.” – Mindy A. “It’s a misconception that a diagnosis comes quickly.” – Karen R. “With a rare disease, it’s nearly impossible to get others to understand you’re in pain if you can’t show them.” – Christy H. “We aren’t on some kind of a stay-at-home vacation just because we have a debilitating rare condition.” – Tessie A. “Our society thinks it takes a special kind of person to care for someone with a rare disease or disability. Nope. It just takes a kind of person who displays basic human qualities and has a lot of love and patience.” – Elizabeth B. “You can live a joy filled life with a chronic illness. It doesn’t necessarily mean that you feel good, but that you choose to be joyful.” – Michelle P. “I’ve had people think that changing my food and/or diet will completely ‘cure’ my rare disease, which is not the case.” – Jenn S. “There’s an assumption that all doctors know and learn about rare diseases. This is certainly not true.” – Sandra R. “It’s frustrating when people tell me, ‘But you look great!’ My response? ‘Thanks! You don’t see me on the days I look like my medical record.’” – Dawn D. “People need to understand that we oftentimes don’t outwardly look physically ill. We could be your neighbor, your nurse, your teacher. You walk past lots of rare disease patients every day and have no idea who they are based on appearance alone.” – Kaitti M. “I think a major misconception of rare disease is that a diagnosis is given from birth or sought after. This is not always the case. Some rare disease patients are born in perfect health and live years before they have a ‘trigger’ to their disease. Literally overnight, families will have to live with massive changes. They will now learn to live with severe disability and the medical maze of rare disease.” – Kim S. “Don’t think that we don’t love what we have. Having a rare disease comes with pluses and minuses, but I wouldn’t trade my life if given the choice. So many incredible people have come into my life due to my rare disease. The tough times I endured have made me a better person.” – Kendra G. “A misconception of living with rare disease is that all experiences are the same. Instead, those experiences of people living with rare disease are as diverse as the people who live with even the same rare disease. There may be similarities to symptoms and treatments, but pain, medications, therapies, appointments, lifestyles will differ depending on who is living with the rare disease. We are still a kaleidoscope of our race, nationality, ethnicity, gender, sexuality, age, class and ability. Telling our complete and unique stories is imperative to patient-centered medicine. ” – Rebekah P. Do you live with a rare condition or care for someone who’s rare? What’s one misconception about living with or caring for someone with a rare disease? Let us know in the comments below.