We want to empower you to know more about rare disease. Read the journeys of people who live every day with a rare disease, and learn about the new research and researchers working to create a better future.
Find information about your disease or anything else that might be helpful
Journalist Lindsay Guentzel describes navigating a diagnostic odyssey and how she manages day-to-day life with myositis in an impactful webinar.
Rare mom Samantha Deschenes gives us an unfiltered look into life as a parent to a child with refractory seizures.
Join Know Rare in a heartfelt exploration of the profound impact of journaling on the lives of those touched by rare diseases. In the “Know Rare Connect: Journaling Your Journey” webinar.
In this recap of our first live Know Rare Connect event, we meet some incredible members of the Know Rare team and hear their stories.
After his diagnosis of limb-girdle muscular dystrophy type 2B at age 21, Chris initially opted for a safe career path, choosing jobs with steady income, benefits, and predictability. However, this decision made him feel like something was missing. Find out how Chris was finally able to follow his heart, finding purpose and contentment in becoming a writer.
Learn about the incredible story of Edward Gent, a Sports Nutritionist diagnosed with MMN, who decided to create an app to help others worldwide with their disease and symptom management.
Know Rare writer Gina DeMillo Wagner’s new memoir, Forces of Nature explores powerful themes related to caregiving and rare disease.
Journalist Lindsay Guentzel offers an inside look at life with the rare muscular condition.
Many people living with rare disease describe life in terms of before and after: Before a diagnosis, they experience frustration, confusion, and exhaustion as they see various doctors and try to make sense of their symptoms. After a diagnosis, they may experience waves of relief mixed with a determination to find treatments – and often, grief about the impacts of the disease on their lives. No one understands how it feels to step across that invisible before-and-after line better than Julia Lefelar, Executive Director and Co-founder of the MOG Project.
Orit recently joined the Know Rare business development team with the goal of helping other caregivers and patients learn more about how to engage with clinical studies and other opportunities for support. Here’s how she is reframing attitudes towards life with a rare condition.
Caitlin Eppes shares the inspiring story of The Avery Project, an initiative named after her daughter and dedicated to research of her rare genetic variant, and discusses how her family defied one-in-a-million odds to find a breakthrough in their diagnostic journey.
Learn what Certified Child Life Specialists do and why they can be a major asset to families navigating rare disease journeys in this story by Katie Whelan, a Certified Child Life Specialist & Family Engagement Coordinator.
Storytelling is a powerful way to process adversity and make a difference in someone else's life.
KnowRare is thrilled to be partnering with Chris Anselmo, author of “Hello, Adversity,” as he becomes a regular contributor to our platform.
The bittersweet and unpredictable chain of events that made Donna Rae Menard a believer in the clinical trial process.
As a child, Becky Tilley often felt like she didn’t fit in or wasn’t as successful as other kids in most academic areas… except for one subject: English. Her love for reading and writing returned in her adulthood, when she started blogging about living with a rare disease called Koolen-de Vries. Learn about her newest book, Thrive Rare: Embracing the Uniqueness Within, born of her desire to spread hope.
I was twenty-six years old, a filmmaker, leading a totally normal and healthy life, until I was diagnosed with myasthenia gravis. My name is Krystel El Koussa, and this is my story.
Alice, a rare mother from the Czech Republic, shares her story with the rare community. She talks about the diagnosis process, the hopes, and the challenges of taking care of her son Alexík, who lives with three rare diseases.
Cate shares her experience of living with myasthenia gravis, and reveals how practicing mindfulness and gratitude have greatly improved both her mental health and daily life.
Caring for someone with a rare disease can tremendously impact our daily life and well-being. Annie Harper shares her mental health journey and the importance of finding the right support.
My name is Lindsay Alpert and I am thirty-one years old. This is my journey and path to my diagnosis of a rare chronic autoimmune neuromuscular disorder, Myasthenia Gravis.
Laura shares her story of living with MS and ITP, a rare disease that affects the number of platelets in the blood. Learn more about her perspective on life, her day-to-day activities, and her experience in joining a clinical study.
Joan shares her experience of living with ITP, a rare disease that affects the number of platelets in the blood. Learn more about her worries and the useful advice that she offers to the Know Rare community.
I can clearly remember the day we finally received his diagnosis. It was 2019, and my son was 14 years old. We had already been treating seizures and developmental delay for years. However, I was not prepared for the actual diagnosis.
Hello everyone. I am 35 years old and I have Propionic Acidemia (PA). Life with PA is not always easy. I was diagnosed late, which caused me to have a stroke at a very young age. After years of needing a wheelchair and walker, I made a somewhat normal recovery.
This month Desmond will head to preschool and be held and cared for by his community, as is his right. For any parent who has been through an individual health plan or an individual education plan (IEP), you know it is no simple task. I would love to share what this has been like for me and my son.
Have you ever left a doctor appointment and realized you forgot to mention an important event in your health history? Having a rare disease often means you are seeing more than one doctor, and they all need to know your medical history. That means you have to remember all the symptoms and treatments you’ve had, including when they started and stopped, and how much they have affected your life.
Defying the odds, Amy never thought she’d be able to have children. Her pregnancy was high-risk due to her own medical issues. However, she made it through her first trimester of pregnancy and was ready for an ultrasound at 18 weeks. Amy didn’t expect the doctors at her local hospital to tell her that her daughter would never walk or talk.
Like many rare diseases, Focal Segmental Glomerulosclerosis (FSGS) is full of surprises, but the main one often occurs at diagnosis. Read how Johnathan, Karen, and Talanda dealt with their unforeseen diagnosis and learned how to live with FSGS.
The mental health community defines complicated grief as a severe form of mourning that doesn’t resolve with time. In this article, Gina D. Wagner expresses her experience with complicated grief after the loss of her brother who lived with Prader-Willi syndrome along with what she’s learned along the way.
Gina Wagner grew up with a brother with unexplained behaviors and health concerns which were later explained as to be symptoms of Prader-Willi syndrome. In this piece she shares 3 things she wishes she would have known.
Howard Wooley shares what he learned about caring for his wife who had sickle cell disease.
Gail Campbell Woolley (1957-2015) grew up in Washington DC, and was diagnosed with sickle cell anemia at age seven. Her book, Soar: A Memoir, published posthumously by her husband, details her heroic defiance against sickle cell disease.
If you are coming across high copays and struggling to afford your treatment plan, here are a few options that may help you reduce the costs of your medications.
Get essential information about congenital myasthenic syndromes (CMS) and why clinical trials are a crucial element in the path towards better treatment for the condition.
Get the basics on needle anxiety, one of the top medical fears among children, and discover tips to manage it.
On World Oral Health Day (March 20), we’re taking a closer look at what your oral health can tell you about your well-being.
As we step into Rare Disease Month this February, it's an opportune time to celebrate resilience, foster connection, and empower ourselves within the rare disease community.
An expert on adolescent health shares tips for families navigating substance use concerns alongside rare disease.
It’s National Influenza Vaccination Week: find out why the flu vaccine should be a critical part of your winter to-do list.
Special diets can be a challenging but necessary part of rare disease treatment. Here, a leading dietician offers advice for supporting nutrition from birth through adulthood.
Tips from Know Rare on what to do and what to say to be a supportive ally to a friend, family member, or other loved one who has been diagnosed with a rare disease.
We spoke with several teenagers and their parents about how they cope with different aspects of living with rare disease. Here are their best tips and advice.
Many patients managing rare diseases and conditions will be familiar with fatigue. Though it might seem like a common annoyance, fatigue is a debilitating symptom that can sap physical energy and reduce mental clarity and alertness.
MG is a chronic condition with symptoms that come and go. It can be severe, but it’s also a treatable condition. Here are 10 key insights for MG patients and their support networks.
The holiday season is just around the corner, and for many, this time brings joy and connection; however, if you are navigating the diagnosis of a rare disease, the holidays can be stressful and challenging. Here are our five ways to protect your emotional health during the busy holiday season.
If you have been diagnosed with pemphigus vulgaris, here are some lifestyle management tips you can do that can help.
When what you see up ahead feels way too enormous and scary to manage by yourself, it can leave you feeling lonely and vulnerable. There can be a lot of trial and error involved before you finally find the one who finally hears you and tells you those words you long to hear…
If you’re like Lynn Nezin, you’re ready to battle for your child, especially if they have to suddenly go to the hospital for something either related or not related to their rare disease. Lynn’s son, Casey, was born with Glycogen Storage Disease Type 1A, also known as Von Gierke’s Disease. Here is what Lynn has learned…
Caring for a loved one with a rare disease can be emotionally and physically exhausting. And that’s certainly true for rare cancer caregivers. Read five pieces of advice from the leaders of TargetCancer Foundation, Jim Palma and Kristen Palma Poth.
Receiving a cancer diagnosis is one of the most difficult experiences anyone can face. But for rare cancer patients, there’s an additional layer of unknowns, because most doctors may not have much experience with their specific disease. Kristen Palma Poth and Jim Palma, president and executive director of TargetCancer Foundation, share their best advice for newly diagnosed rare cancer patients.
Here are 4 tips to set up your smartphone so you’re prepared for a sudden trip to the ER.
Be ready to soothe minor emotional cuts and scrapes. These five tips can help you prepare a mental health first aid kit.
The Penguin Plunge of Nyack was never meant to be an "annual" thing; it was just a couple of friends who wanted to put together a one-time winter plunge into icy Hudson River waters in southern Rockland County. If we were going to do something that crazy, we figured we should do it to raise funds for a good cause.
Read about the importance of supporting employees who are also rare disease caregivers. Gina D. Wagner argues that employers must address their needs and implement significant changes in the workplace, and offers five ways organizations can create a balance between work and life for these caregivers.
Families affected by rare genetic disease may have questions about whether others in the family will develop the disease, particularly if they or their children are affected. Here is some advice from a genetic counselor.
How do you go about finding an expert who understands your rare disease and can answer your questions? Where can you find more information on your condition to share with the specialist(s) helping with your care? Unlike most diseases, in rare disease, the doctors conducting the clinical trials are usually the leading experts on that rare disease. This is because there may be so little information available on a particular rare condition that anyone studying it becomes a top expert almost by default.
Here are some recommendations from people who have learned how to find the experts and information they need.
7 tips for finding the right clinical trial for you and how Know Rare makes it easier to find a clinical study and talk to a researcher.
Ambiguous Loss is unique in that people facing this kind of loss are denied traditional closure rituals and acknowledgements, like memorials and respite periods, as well as typical social support and bereaved status. They are expected to carry on as usual, and may be stigmatized when they do not.
Pre-procedure anxiety is a normal part of the medical process. In fact, up to 80 percent of surgical patients are reported to experience anxiety before operation.
As a pivotal diagnostic date approaches, a Rare Mom reflects on the complicated emotions associated with pregnancy.
One Rare Mom gets the unvarnished truth on the challenges families face when living with this complicated condition.
A mother to a child with a rare condition discusses palliative care programs and how they’ve impacted her family.
For those of us caring for people with rare diseases, the words we use to describe them have the power to frame their experiences. Learn how Laura uses her language to empower her child and her role as a caregiver.
Louisa Stringer, a certified caregiving consultant, shares the benefits of journaling for caregivers facing the uncertainties of rare disease.
In this journal entry, Laura Will shares her emotional experience in returning to the MRI suite where, in 2020, her family’s life ‘would never be the same.’
In wishing our rare community a happy Rare Disease Day, discover the empowerment and uniqueness that lies behind the word ‘rare,’ leading Laura Will to readily call herself a ‘rare mom.’
Here’s a rare mom’s reflection on the innocent curiosity of her well child and the questions about disability that she must learn to answer.
I can recall the sunny, white-walled classroom, on the upper west side of New York City, where I first heard the medical term, “Failure to thrive.” I was a student, working towards a Master’s Degree in Nursing, reviewing diagnostic criteria of various gastrointestinal conditions…
Read a personal perspective of a mother raising both well and medically-complex young children. Learn about the impact a medically-complex sibling can have on the family dynamic, and access resources that may support the well child in exploring their emotions.
Research shows that rates of depression and anxiety are elevated among parents and caregivers of children with complex care needs. This is no mystery. I see many contributing factors: grief, chronic stress, poor sleep, caregiving burden, potential loss of work to care for the child, financial stress, social isolation, and spousal relationship problems. Which of these factors rings true for you?
As a community advocate for Rare Advocacy Movement, Uni Neha has a passion for guiding others in their rare disease journey. We sat down with Uni to talk about her resiliency routine and to hear her advice for others who are looking for new resources to support their wellbeing.
Discover how humor can be an incredible tool for protecting, connecting, and emboldening caregivers in many of their dark and difficult moments.
In our family, the love is infinite and the joy is absolute. In many ways we are like any other family; however, as we navigate this decision to have another biological child, the math is painfully different. I feel overwhelmed by uncertainty, the possibility of genetic errors, and the fragility of life.
Caring for a chronically ill child can be emotionally perilous. As a rare parent, Laura knows that sorrow naturally slips into moments of joy. By practicing and sharing gratitude, Laura gains control and eases those moments of fear and grief. Discover the power of gratitude and learn how the act of giving thanks transformed the way Laura experiences her husband, her children, and her day-to-day life.
After her infant son was diagnosed with a rare brain malformation, Laura had an identity crisis. She was no longer just-a-mom, but also a family caregiver. Although this newly acquired title may be emotional and exhausting at times, Laura discovered in herself unforeseen skills and a remarkable strength. She delves into the description of the four states of a caregiver’s identity and creates a beautiful metaphor for this extraordinary role.
While I can not trust the future health of my child, I have found things I can trust: his doctors, his one-to-one aid, my partner, the coffee maker, laughter, and my desire to care for my son. Naming the things we trust can offer some sense of control. With that trust, the fear is held at bay; and, if we pay attention, hopeful little moments start unfolding before us.
Rare Resiliency is a monthly column written and/or curated by Laura Will. This column explores the concepts and skills that play a protective role against chronic and acute stress. Each article challenges and encourages the reader to continue to develop that inner steadying strength as they face illness and uncertainty, sorrow and joy.
When you live with a rare disease, the joyful experiences risks can bring are all the more valuable.
Author Chris Anselmo explains why being mindful of your pace can have major benefits for your health and well-being, and offers some tips to help.
In his last post, author Chris Anselmo explored why it’s so hard to ask for help. Now, he shares his tips for how to do it with confidence.
Hello, Adversity author Chris Anselmo delves into the common obstacles that make seeking help challenging, particularly for many people living with rare disease, and the transformative power of overcoming those mental blocks.
How writer Chris Anselmo confronts one of the most challenging yet persistent aspects of living with rare disease.
The holiday season is just around the corner, and for many, this time brings joy and connection; however, if you are navigating the diagnosis of a rare disease, the holidays can be stressful and challenging. Here are our five ways to protect your emotional health during the busy holiday season.
Be ready to soothe minor emotional cuts and scrapes. These five tips can help you prepare a mental health first aid kit.
When it comes to mental health, rare disease can put you on shaky ground. You’ve likely faced years of uncertainty just waiting for a diagnosis. Not knowing what is wrong or what to expect in the future is scary and unsettling. Because little is known about many rare diseases, there may be no one to turn to for answers. No wonder stress is the main culprit affecting mental health for people with rare diseases.
Next to a focus on self-care, social support may be the most important factor in successful long-term coping with ambiguous loss (AL)—a sense of loss characterized by uncertainty about the loss of a loved one and/or the life we once knew.
Ambiguous Loss is unique in that people facing this kind of loss are denied traditional closure rituals and acknowledgements, like memorials and respite periods, as well as typical social support and bereaved status. They are expected to carry on as usual, and may be stigmatized when they do not.
Pre-procedure anxiety is a normal part of the medical process. In fact, up to 80 percent of surgical patients are reported to experience anxiety before operation.
At age 15, Becca Salky became her own medical detective, playing a key role in uncovering her diagnosis. Now, as a Clinical Research Coordinator at Massachusetts General Hospital, she focuses on spreading awareness about MOG, finding better diagnostic tools, leading clinical trials, and fighting gender disparity.
The best way to understand how rare disease impacts patients and families is to listen. Dr. Susan Waisbren, a clinical psychologist, has seen this firsthand.
Learn about Dr. Rohit Aggarwal’s efforts in creating more centers of excellence for myositis, as well as educating, empowering, and connecting patients to clinical trials.
When it comes to complex, rare diseases, most people don’t think “dermatology.” But they should, says Prince Adotama, MD, a board-certified dermatologist and faculty member at NYU. Dr. Adotama specializes in skin of color care and skin autoimmune disorders, including rare bullous disorders.
Jessica Duis, MD is more than a pediatric geneticist. She’s a partner and friend to children and adults who have Angelman, dup15q, and other related syndromes. Throughout her career, she has noticed a need for patients and their families to find community and support within the walls of the hospitals and clinics where they spend so much time.
Learning that your child has a rare genetic disorder is a profound moment for any parent. But imagine finding out for the first time that you have the same disorder too. That was the scenario Becky Tilley faced the day she learned that she, her infant son, and her then-unborn baby all have Koolen-de Vries Syndrome.
Joshua Owens, MD, is a genetics resident at Cincinnati Children’s Hospital. Through his work, he encounters families seeking answers to the range of mysterious symptoms and diseases that have genetic origins. Read on to learn about the types of genetic testing that are available today, as well as the benefits and risks of testing.
Anne-Marie McIntyre is a clinical research coordinator and research assistant at Cincinnati Children’s Hospital. Learn more about her educational and professional pathway, which led her to specialize in mitochondrial disease, and her work in research.
Dr. Pushpa Narayanaswami is a neurologist based in Boston, Massachusetts. At the core of her work is to help patients live each day a little better and aid them to achieve their goals of care together. Read on to discover what led her to pursue her field of study and where she sees rare disease research going in the next few years.
At only four years old, Jeremy Lankford already knew that he wanted to be a neurologist. Today, that dream has come true, but what makes that reality even sweeter for the now-veteran physician is that his expertise is focused on improving the lives of kids just like that young version of himself.
Dr. Mary Kay Koenig is a physician with many interests, from chemistry to neurology to children's care—but at the beginning of her medical career, she never could have guessed that mitochondrial medicine would be the specialty where all of her passions intersected.
Bob Coughlin, who today serves as an advisor to life science companies, was never one for thinking small or limiting his ambitions for rare disease patients. Learn how he and his family overcame the obstacles of cystic fibrosis (CF), raising awareness and money to search for a cure.
Dr. Chapman is a leading expert in PA and serves as the director of the mitochondrial disorders clinic at Children’s National. Read on to learn more about Dr. Chapman’s work, and why she feels that clinical trials are a crucial pathway to rare disease therapies.
Dr. David Fajgenbaum was in his third year of medical school when a rare and mysterious illness derailed his plans. Crushing fatigue, abdominal pain, and multiple swollen lymph nodes progressed rapidly, and he found himself in the ICU with multiple system organ failure. Recovering from the brink of death, he was diagnosed with Castleman disease (CD), a rare condition that at the time was thought to be a lymph node disease with similarities to cancer.
Breaking down the differences between observational studies and clinical studies for drug research.
Ongoing clinical trials are paving the way for reducing steroid dependency and improving treatment options for various medical conditions.
The bittersweet and unpredictable chain of events that made Donna Rae Menard a believer in the clinical trial process.
For many of us in the rare disease community who have no approved treatments available, clinical trials are a powerful source of hope. Read on to learn about the benefits of joining a research study and how you can take part in one.
If you are interested in joining a research study, you may encounter some difficulties in navigating clinical trial listings. Here’s a quick guide to help you understand the terminology you might find in a clinical trial listing.
As a member of the rare community, you may know something about the process a new medication must go through before it receives FDA approval. Clinical trial phases 1 through 3 are conducted to establish the safety, effectiveness, and optimal dosage of a new treatment before it is made available to the public. But did you know that some drugs undergo an additional step post-approval to track their performance in the real world? These post-marketing studies, called phase 4 studies, help manufacturers learn more about long-term benefits and risks and offer a number of benefits to study participants.
7 tips for finding the right clinical trial for you and how Know Rare makes it easier to find a clinical study and talk to a researcher.
For many, “experimental” is what may come to mind when hearing about a clinical trial, which makes the prospect scary. However, for someone who has a rare disease without a treatment, the course ahead may already be filled with so many unknowns. Participating in a clinical trial can offer the opportunity to get access to care with doctors who are likely experts in the studied disease. But the key is, do not be afraid to ask.
If you’ve spent any time reading up on or living life with a rare condition, chances are you’ve come across the terms “genetic disorder,” and “gene therapy.” But what exactly do they mean? And what differentiates them from other diseases and treatments?
Here’s a staggering statistic: only 5 percent of rare diseases have approved treatments. But that doesn’t mean there isn’t extensive work and research being done to find therapies, procedures, and eventually, cures for these conditions.
Learn more about CureGRIN, founded in 2018 by parents of children diagnosed with GRIN Disorder to help find cures and therapies for people around the world suffering from these conditions.
It’s no secret that it is difficult to get to a pain medicine specialist. There are just so many people in pain who cannot find relief, and are looking for help. Learn about Bliss Health, which provides access to pain management services through virtual consultations, through a dedicated team of medical professionals who specialize in the diagnosis, treatment, and ongoing management of various types of chronic and acute pain conditions.
The International Waldenstrom's Macroglobulinemia Foundation (IWMF) is a patient-founded and patient-driven, international nonprofit organization with a simple but compelling vision and mission: to have a world without WM (Waldenstrom's macroglobulinemia) and to support and educate everyone affected by Waldenstrom's macroglobulinemia (WM) while advancing the search for a cure.
The MOG Project is devoted to raising awareness about MOG Antibody Disease (MOGAD), as well as educating doctors, patients, and caregivers and also advancing research through expert collaboration and fundraising for our Research for Rare program.
Spotlight on Trial Equity, an organization whose mission is to address the underrepresentation of diverse populations in clinical trials, ultimately advancing health equity.
SRNA is a not-for-profit, international organization dedicated to the support of children, adolescents, and adults with a spectrum of rare neuroimmune disorders. Learn more about their work, community, and resources.
Cure CMD is a non-profit organization whose mission is to advance research toward treatments for congenital muscular dystrophies (CMD) and improve the lives of those living with CMD through the engagement and support of their community.
AVM Alliance is a 501(c)(3) charity dedicated to filling the needs of the pediatric Brain AVM & Stroke community, helping parents of children who have been affected by brain vessel disease and Stroke.
After their son’s diagnosis of Epilepsy, the Anderson’s struggled to find a sleep-monitoring solution that worked for them. They decided to take matters into their own hands and created SAMi, a device designed to track nocturnal seizures as well as many other nighttime symptoms. Now, the family continues to develop SAMi, and unlock potential in the device that they are uncovering as they go.
The National Human Genome Research Institute (NHGRI) is a leader in the celebration of National DNA Day. Learn more about their mission and purpose.
ANGEL AID supports rare families and offers relief services to caregivers through sustainable health and wellness training, transformative retreats, and a globally connective mother-to-mother network.
The Cure Mito Foundation is a volunteer-run foundation dedicated to advancing education and research for Leigh syndrome and mitochondrial disease.
For over 25 years, the United Mitochondrial Disease Foundation (UMDF) has worked to promote research and education for the diagnosis, treatment and cure of mitochondrial disorder while supporting affected individuals and families.
For parents and other family members of children with disabilities, nothing is more comforting than the voice and wisdom of someone who’s been there—someone who truly understands the ups and downs of living alongside someone with a rare disease or rare disorder. That’s why Theresa Bartolotta decided to offer a podcast.
When it comes to finding answers about rare disease, nothing is more powerful than a parent’s determination and perseverance. That’s exactly how the Familial Dysautonomia (FD) Foundation came to be in 1951.
When Paul Poth received a rare cancer diagnosis at age 37, it kicked off a series of events that would change the course of treatment for countless other patients. Read on to learn why Paul started TargetCancer Foundation and what is the organization’s main mission.
The Propionic Acidemia Foundation is a 501(c)3 non-profit organization dedicated to finding improved treatments and a cure for Propionic Acidemia by funding research and providing information and support to families and medical professionals.
The Organic Acidemia Association is a non-profit organization whose mission is to empower families and health care professionals with knowledge in organic acidemia metabolic disorders. Learn more about their patient registry, a new Metabolic balancer app, and their newborn screening resources.
The Genesis Foundation for Children is a non-profit organization that provides wraparound care for children born with rare diseases and genetic disorders. Learn more about their impact and the programs that they fund.
The PMG Awareness Organization is a nonprofit organization of families, caregivers, and medical professionals that support those with Polymicrogyria and raise awareness of this rare disease. Learn more about their goals and upcoming events.
Rare Patient Voice is a market research company that connects patients and caregivers with opportunities to share their opinions with researchers and companies developing medical products, treatments, and services.
The Alagille Syndrome Alliance is an international nonprofit that strives to create a loving and supportive community for all ALGS Warriors. Learn more about their mission and the several goals that they aspire to achieve.
Learn more about the National Society of Genetic Counselors (NSGC), an association which promotes the professional interests of genetic counselors and offers a network for professional communications. Access the full article to read about their mission, vision, and history.
The Center for the treatment of Pediatric Neurodegenerative Disease strives to centralize care for children afflicted with these rare, chronic, and debilitating diseases. The Center includes a multidisciplinary team of physicians and other healthcare providers offering comprehensive services to aid in the diagnosis, management, and social support of children and their families suffering from neurodegenerative diseases.
The National Alliance for Caregiving is an organization that’s dedicated to improving the quality of life for both caregivers and those in their care. With an emphasis on friend and family caregivers, the NAC aims to advance research, advocacy and innovation in all areas of caregiving.
The Myasthenia Gravis Rare Disease Network (MGNet) is a consortium of academic medical centers partnering with the Myasthenia Gravis Foundation of America and Conquer MG as well as collaborators in other research groups and industry. We are working together to enhance therapeutic development for this rare disease.
Nephcure Kidney International's mission is to accelerate research for effective treatments for rare forms of Nephrotic Syndrome, and to provide education and support that will improve the lives of those affected by these protein-spilling kidney diseases. NephCure addresses both individual and over-arching community needs for those with kidney disease.
Alport Syndrome Foundation is the leading patient-led, independent, nonprofit organization in the United States serving and giving a voice to the Alport syndrome community. ASF’s mission is to improve the lives of patients through education, empowerment, advocacy, and investment in research.
The IGA Nephropathy Foundation is a nonprofit dedicated to the eradication of IgA nephropathy (IgAN), an autoimmune disease that attacks the kidneys.
The Rare Advocacy Movement (RAM) is a rare disease community leadership network focused on addressing issues that affect the real-world people of the global rare disease community.
Find out about 7 research areas identified as priorities in Sickle Cell Research and about a sickle cell disease drug, which was originally approved for treatment, that has been taken off the market.
There are over 50 million people in the United States that live with chronic pain. However, researchers studying pain have learned something important: perception of pain is personal, and may have more to do with other factors than just the physical cause of the pain.
Why Men’s Health Week (June 10-16) matters for the Rare Community, and how you can take part.
This summer, NMOSD and MOGAD patients, caregivers, clinicians, nurses, researchers, and advocates are invited to join The Sumaira Foundation at Emory for TSF's Atlanta Patient Day.
This May, Know Rare is shining a light on myositis, a group of rare autoimmune muscle diseases that can have profound effects on daily life. This is an important time for the myositis community and the rare disease community at large: a time to share stories from those living with the condition, share more information about the current state and future of the disease, and advocate for better treatments that will ultimately enhance the quality of life for those impacted by it. Whether you're a patient, caregiver, or advocate, join us in raising awareness and supporting those affected by myositis.
Recent headlines in research and advocacy show promising news for the treatment of rare diseases.
The National Tay-Sachs & Allied Diseases Association (NTSAD), leader in the worldwide fight to treat and cure Tay-Sachs, Canavan, GM1 and Sandhoff diseases, is hosting the first-ever, ExternallyLed Patient-Focused Drug Development Meeting for GM2 gangliosidoses (Tay-Sachs and Sandhoff diseases) on Thursday, February 15, 2024.
Edgewise’s investigational drug is a pioneering treatment for Duchenne and Becker muscular dystrophies.
Know Rare's Medical Advisor, led the Mass General for Children’s Storybook Ball, raising $1.9 million for innovative healthcare and research, while sharing her own personal rare disease journey, and highlighting Know Rare's mission to connect and empower individuals living with rare conditions.
A new treatment for myasthenia gravis, a rare neuromuscular condition, has been approved by the FDA thanks in part to the success of a clinical trial that Know Rare helped to recruit patients for.
In a 2021 report, authors Ahmad Saud, R Naveen, Rohit Aggarwal & Latika Gupta, all well-known experts in myositis, discuss recent findings about the relationship between COVID-19 and myositis.
Discover how forward-thinking researchers are designing clinical trials to accommodate people’s lives and needs, helping with clinical study participation and the development of much-needed treatments.
A recent study, involving children of ages 12 and older with PA or MMA, found an interesting approach in assessing individuals’ abilities to understand, think, and reason.
At times, managing a rare condition can feel like an isolating reality. We’ve rounded up notable names who break with that status quo, bringing rare conditions—and the stories behind them—into the spotlight.
Learn about a terrible story that occurred in 1989, when a woman named Patricia Stallings was wrongly convicted for the death of her son.
Management of chronic kidney disease is complicated by many things, such as fluid retention, anemia, and effects on multiple organs in the body. In India, where treatments can be too expensive and beyond the reach of the majority of the population, many have relied upon yoga as an alternative therapy.
Rare advocates, such as Nadia Bodkin, are shining a light on racial and ethnic inequities in healthcare systems. Learn how Rare Advocacy Movement (RAM), co-founded by Bodkin, and the rare disease community are fighting to make care more equitable for all.
A recent New York Times article discusses the inexactness of prenatal testing and how false positives about genetic markers of rare disease can cause anxiety. Read genetic counselor Elizabeth Kearney’s response, where she expertly addresses the inaccuracies and assumptions made in the article.
For people with primary mitochondrial myopathies (PMM), it is reassuring to know new studies are continuing to explore activators of PPAR delta as a possible way to stimulate mitochondrial activity, increase energy production, and improve the performance of skeletal muscle cells.
The RDDC was established at a pivotal time, as the United States continues to grapple with the impact of the COVID-19 pandemic and the glaringly evident racial disparities that exist regarding infection rates, treatment, and access to care.
From trailblazing researchers to game-changing public health advocates, women in medicine historically faced marginalization due to their gender, and, in some cases, their race. Nonetheless, they changed the playbook for the physicians who would follow them, as well as for the patients who would benefit from their discoveries in the future.
As we welcome 2022, Laura Will chooses self-compassion as her New Year’s resolution. She delves into the description of the three key elements to self-compassion, revealing its many benefits. Instead of using self-critical thoughts to guide another transient resolution, Laura invites us to honor our imperfect and emotional selves, to practice self-kindness, and to channel some caring energy inwards.