"A Window Into Rare" - Rare Disease Day Panel Discussion
Rare Disease Day News and Columns
- #RAREis Representation Program Promotes Equity, Diversityby Teresa Carvalho MSc on March 4, 2022
Horizon Therapeutics has launched its #RAREis Representation program aimed at increasing diversity, equity, and inclusion among patients with rare diseases. There are about 400 million people worldwide living with a rare disease; for many of them, access to diagnosis, care, and treatments can be challenging. Accessing better care depends on several factors, including the social determinants of The post #RAREis Representation Program Promotes Equity, Diversity appeared first on Epidermolysis Bullosa News.
- Rare Disease Day Panel Opens Window to Patient Experienceby Hawken Miller on March 2, 2022
BioNews, the publisher of this website, hosted a virtual panel discussion on Rare Disease Day 2022, taking a deeper dive into what it’s like to live with a rare disease, including conversations about advocacy, mental health, survivor’s guilt, treatment of minority patients, and more. The Monday event, “A Window Into RARE,” was hosted by Liza Bernstein, The post Rare Disease Day Panel Opens Window to Patient Experience appeared first on Muscular Dystrophy News.
- Let’s Keep Rare Disease Day Momentum Goingby Kristen Wheeden on March 1, 2022
Rare Disease Day, observed yesterday, involved many awe-inspiring and well-organized virtual events attended by people from all over the world. This annual day of observance generates awareness about some 7,000 known rare diseases and over 300 million people who live with them. According to Global Genes, about 80% of these diseases are genetic, and about The post Let’s Keep Rare Disease Day Momentum Going appeared first on Porphyria News.
- Ushering in a New Generation of PH Championsby Mike Naple on March 1, 2022
When I checked into urgent care in 2016, I was supposed to be preparing a member of Congress for a summit at the White House. But instead of going to work the next day, I sat in the hospital for nearly two weeks and left with a pulmonary hypertension diagnosis. Advocating for change through the The post Ushering in a New Generation of PH Champions appeared first on Pulmonary Hypertension News.
- An Invitation to Uplift the Rarer Than Rareby Brianna Albers on February 28, 2022
I always knew I was rare. From the motorized wheelchair to the feeding tube, there’s no mistaking me for normal. No matter how hard I try to blend in, I always stand out, to the point where I’ve pretty much given up. Why pretend to be something I’m not? Why waste energy on achieving the The post An Invitation to Uplift the Rarer Than Rare appeared first on SMA News Today.
- On Rare Disease Day, Our Communities Unite as Oneby Carlos Briceño on February 28, 2022
Whenever I share that my wife and daughter are both gene-positive for Huntington’s disease (HD), I usually have to explain what the terminal illness is — “Imagine combining Alzheimer’s, Parkinson’s, and ALS in one disease” — and what will happen to them if a cure isn’t found in their lifetimes — “They will suffer a The post On Rare Disease Day, Our Communities Unite as One appeared first on Huntington's Disease News.
- Our Daughter Is the Rarest of the Rareby Lori Dunham on February 28, 2022
From the start, our daughter’s life was harder than most. When we adopted Grace when she was just 13 months old, she was among the roughly 81,000 children adopted by American families from China in the late 1990s and early 2ooos. She came to us underweight and malnourished. She had no teeth, an active case The post Our Daughter Is the Rarest of the Rare appeared first on Lambert-Eaton News.
- PH and Periwinkle Go Together Perfectlyby Colleen Steele on February 28, 2022
Pulmonary hypertension (PH) might look and sound like asthma, croup, chronic obstructive pulmonary disease, or a panic attack — but it’s not. It’s a rare, incurable, and life-threatening condition. The color of the PH awareness ribbon might look purple, lavender, violet, or blue — but it’s not. It’s a delicate mix called periwinkle. It’s serendipitous The post PH and Periwinkle Go Together Perfectly appeared first on Pulmonary Hypertension News.
- Surge in Telehealth Brings Access, Convenience to Rare Disease Patientsby Hawken Miller on February 28, 2022
A rare disease puts an economic burden on the patients, families, and caregivers that it affects, and will no doubt be an integral part of discussions on Rare Disease Day 2022, which brings international awareness about the more than 300 million people living with rare disorders. Part of that burden, estimated at nearly $1 trillion, The post Surge in Telehealth Brings Access, Convenience to Rare Disease Patients appeared first on Muscular Dystrophy News.
- We’re All Rare in Our Own Waysby Halsey Blocher on February 25, 2022
Whenever my family and I meet new SMA specialists, they’re usually rather perplexed by me. They watch in amazement and excitement as my abilities defy the expected progression for an adult with SMA type 1 — someone whose rare genetic coding says they probably shouldn’t be alive, let alone doing well. They absorb the sight The post We’re All Rare in Our Own Ways appeared first on SMA News Today.
- Who Are the Rarest of the Rare?by Betty Vertin on February 25, 2022
The adjective “rare” refers to an event, situation, or condition not occurring very often, not found in large numbers, and consequently of interest. For example, Duchenne muscular dystrophy (DMD) is a rare disease affecting approximately 1 in 3,500 male births worldwide. Years ago, on one of the first Rare Disease Days we experienced after learning The post Who Are the Rarest of the Rare? appeared first on Muscular Dystrophy News.
- We Need More Studies of People With Mild Hemophiliaby Jennifer Lynne on February 25, 2022
Instead of Powerball, I have won the rare bleeding disorder lottery. I have von Willebrand disease and hemophilia B, a less common form of hemophilia that arises when a blood-clotting protein called factor IX is missing or deficient. My diagnoses are rare within a rare community. I often feel like a science experiment. Living with a The post We Need More Studies of People With Mild Hemophilia appeared first on Hemophilia News Today.
- Celebrating the Inner Strength of People With Rare Diseasesby Ari Anderson on February 24, 2022
An object is often considered rare when it has unique, sought-after qualities. But Rare Disease Day, observed on Feb. 28, is about people, not objects. Those of us with rare diseases acquire unique qualities through our experiences. Out of the smoke and ashes rise strong people. Some might think, “So those with rare diseases have The post Celebrating the Inner Strength of People With Rare Diseases appeared first on SMA News Today.
- An IPF Patient Perspective on What It Means to Be Rareby Charlene Marshall on February 24, 2022
For most of my adult life I was blissfully unaware of rare diseases. This lasted until 2016, when I was diagnosed with idiopathic pulmonary fibrosis (IPF), a life-threatening and progressive lung disease that affects about 200,000 Americans, with 50,000 new cases diagnosed annually in the U.S. Like many others, I had heard of more common The post An IPF Patient Perspective on What It Means to Be Rare appeared first on Pulmonary Fibrosis News.
- If Hemophilia Wasn’t Rare, Who Would Be My Family?by Cazandra Campos-MacDonald on February 23, 2022
My Facebook friends fall into a few categories: biological family, colleagues and friends from my music and teaching days, high school and college friends and teachers, and my “bleedin’ folk” family. Raising two sons with severe hemophilia is a blessing because of the people in my life (I work to find the blessings in even The post If Hemophilia Wasn’t Rare, Who Would Be My Family? appeared first on Hemophilia News Today.
- Rare Disease Day Isn’t Only About Spreading Awarenessby Matt Lafleur on February 23, 2022
As the end of February approaches, Rare Disease Day, held annually on the last day of the month, is exciting for most of those who live with a rare disease. But every year, something about this day just doesn’t sit right with me. This year, instead of showcasing the plumage of my unmistakable Friedreich’s ataxia The post Rare Disease Day Isn’t Only About Spreading Awareness appeared first on Friedreich's Ataxia News.
- Why Rare Disease Day Matters to the Amyloidosis Communityby Jaime Christmas on February 23, 2022
When I married my husband, Aubrey, I knew a hereditary and life-threatening disease affected some members of his family, but I had little other information about it. We naively carried on with our lives, secretly hoping the disease hadn’t reached his generation. When we learned that several of Aubrey’s first cousins were ill, many family The post Why Rare Disease Day Matters to the Amyloidosis Community appeared first on FAP News Today.
- Join Us for a Special BioNews Rare Disease Day Webinarby Michelle Gonzaba on February 23, 2022
At some point in everyone’s life, we all feel misunderstood. One of my earliest memories is from when I was 6, and a group of kids made me feel like I didn’t fit in. I don’t remember exactly what they did, but I do remember how lost I felt. It’s a terrible feeling, something we’ve The post Join Us for a Special BioNews Rare Disease Day Webinar appeared first on Myasthenia Gravis News.
- Where Do You Fit Within the PH Community?by Jen Cueva on February 23, 2022
The words I wasn’t prepared to hear went something like this: “Mrs. Cueva, it seems that you have a rare and life-threatening illness.” My mind immediately flashed back to months earlier, when a local doctor had told me that if I had pulmonary hypertension (PH), it would be “a death sentence.” My heart broke, and The post Where Do You Fit Within the PH Community? appeared first on Pulmonary Hypertension News.
- Make It Count: A Visit With Prominent NMO Advocate Sumaira Ahmedby Jennifer van Amerom on February 23, 2022
I have never met Sumaira Ahmed in person, but her energy and passion radiate through computer screens and phone calls. It’s what convinced many of us to follow her charge and become ambassadors for her nonprofit organization, The Sumaira Foundation for NMO, or TSF for short. As TSF’s founder, Sumaira, 32, a New Jersey-born dancer, The post Make It Count: A Visit With Prominent NMO Advocate Sumaira Ahmed appeared first on Neuromyelitis News.
- Q&A With RARE-X Disease Data Platform Founder, Nicole Boiceby Hawken Miller on February 22, 2022
The nonprofit RARE-X is creating an easily-accessible, centralized data hub for all rare disease patient data that can help researchers answer questions about existing disorders, discover new ones, and work toward finding treatments. It was spun out of the work that Nicole Boice, founder and chief engagement officer of RARE-X, did with Global Genes. That The post Q&A With RARE-X Disease Data Platform Founder, Nicole Boice appeared first on Muscular Dystrophy News.
- This Rare Disease Day, Only Share Your Story if You’re Readyby Claire Richmond on February 22, 2022
Every February, my inbox fills with information about Rare Disease Day webinars, forums, and promotions. On social media, patients and caregivers raise awareness through campaigns such as #ShowYourStripes or #ShareYourRare. In Washington, D.C., advocates from around the country gather virtually and in-person to ask their members of Congress for support. Personal stories are perhaps the The post This Rare Disease Day, Only Share Your Story if You’re Ready appeared first on Porphyria News.
- Our Miracle Is Already Hereby Valerie Tharp Byers on February 22, 2022
While we may not be talking about Bruno, it’s no secret that Disney’s latest animated offering, “Encanto,” is on the tip of many tongues, especially in families with young children who are captivated by Lin-Manuel Miranda’s songs. Like many parents of young children right now, my car is filled daily with the music of “Encanto,” The post Our Miracle Is Already Here appeared first on Sanfilippo Syndrome News.
- On Rare Disease Day, Remember Our Strengthby Richard Poulin III on February 22, 2022
What are the chances that a girl from Taiwan would marry a man from the U.S., whom she happened to meet in Thailand, and unbeknownst to them, they were both autosomal recessive carriers of an ultrarare disease known as aromatic l-amino acid decarboxylase (AADC) deficiency? Even though this astronomical occurrence did happen to us, there The post On Rare Disease Day, Remember Our Strength appeared first on AADC News.
- Ensuring No One Is Underserved Along Roads Less Traveledby Samuel Kirton on February 22, 2022
The availability and quality of healthcare patients receive is often based on where they live and what they can afford. This is especially true for those among us with a rare disease. That’s what health equity is all about. It belongs under the umbrella term “social justice,” which encompasses a wide variety of issues. One such The post Ensuring No One Is Underserved Along Roads Less Traveled appeared first on Pulmonary Fibrosis News.
- What Being Rare Means to Meby Dagmar Munn on February 22, 2022
Throughout February, many patient columnists like me who write for BioNews, the parent company of this website, are writing columns recognizing Rare Disease Month, which culminates in Rare Disease Day on Feb. 28. Not only are we encouraging our readers to reach across patient community lines to learn from each other, but also to explore The post What Being Rare Means to Me appeared first on ALS News Today.
- Let’s Work Toward a Future Where CMT Awareness Isn’t Rareby Young Lee on February 22, 2022
When those of us with Charcot-Marie-Tooth disease (CMT) bring up our condition, a common response is, “So how does that affect your teeth?” It’s a frustrating misconception, and we may find ourselves wondering if people with other rare diseases have to deal with the same lack of understanding. But when it comes to rare diseases, The post Let’s Work Toward a Future Where CMT Awareness Isn’t Rare appeared first on Charcot-Marie-Tooth News.
- Celebrating Rare Disease Day in the Hope of Becoming Less Rareby Allison Ross on February 22, 2022
There’s an intriguing dichotomy in the vasculitis community, and I believe it’s one to be thankful for. My journey with granulomatosis with polyangiitis began in relative isolation. I was unfamiliar with the medical terms and treatments, and overwhelmed by the new normal that stood in front of me like an insurmountable brick wall. Worst of The post Celebrating Rare Disease Day in the Hope of Becoming Less Rare appeared first on ANCA Vasculitis News.
- An EB Q&A for Rare Disease Dayby Patrice Williams on February 17, 2022
In light of Rare Disease Day on Feb. 28, I wanted to answer some common questions I am asked about my son Jonah, who has epidermolysis bullosa. This will be a pretty good column, but if you want to read something even cooler, you should head back to this column and this column, because I The post An EB Q&A for Rare Disease Day appeared first on Epidermolysis Bullosa News.
- The Journey of Colleagues and Comradesby Lori DePorter on February 17, 2022
Parkinson’s is not considered a rare disease, as it affects nearly a million in the U.S., but the people within the Parkinson’s community are rare to me. They are unique, and they are exceptional. I am proud to be an advocate for Parkinson’s awareness and the rare disease communities that BioNews serves. Since joining BioNews, the parent The post The Journey of Colleagues and Comrades appeared first on Parkinson's News Today.
- Our Daughter Is 1 in 10,000by Jackie Babiarz on February 17, 2022
When my 12-year-old daughter Cammy was diagnosed with Rett syndrome at 20 months old, we were told it’s a rare neurological disorder that primarily affects girls because it’s caused by a gene mutation in the X chromosome. The condition is estimated to affect one in 10,000 girls worldwide. That does sound rare. However, whenever I The post Our Daughter Is 1 in 10,000 appeared first on Rett Syndrome News.
- More Studies Confirm Hefty Economic Burden of Rare Diseasesby Hawken Miller on February 17, 2022
It’s been nearly a year since the EveryLife Foundation for Rare Diseases released its expansive report finding the total economic burden of rare disorders in the U.S. to be nearly $1 trillion. The post More Studies Confirm Hefty Economic Burden of Rare Diseases appeared first on Muscular Dystrophy News.
- Will You Join Us on Rare Disease Day 2022?by Kristen Wheeden on February 15, 2022
Rare Disease Day on Feb. 28 is a critical day, although every day is Rare Disease Day when you are living with or caring for someone who has one. The experience is often isolating and lonely, but on this special day, we are all urged to come together as one. Rare diseases don’t respect geography, The post Will You Join Us on Rare Disease Day 2022? appeared first on Porphyria News.
- Rare Disease Day Events Bring Awareness, Equity to Patientsby Hawken Miller on February 7, 2022
Since 2008, Rare Disease Day — the last day of February — has brought together patients, caregivers, family members, friends, and advocates from around the world to raise awareness and improve equity for the more than 7,000 known rare diseases that affect more than 300 million people. In 2022, the 14th anniversary of the launch The post Rare Disease Day Events Bring Awareness, Equity to Patients appeared first on Muscular Dystrophy News.