'I Have What?!' What Happens When a New Diagnosis Does Not Make Sense?As a complex rare disease patient, I'm used to receiving new diagnoses and even reaching the point of desperately wanting a diagnosis just so I can have a name for...reactionscomments
Medicaid Needs to Do Better for Rare Patients and FamiliesI recently took my 3 children to their pediatrician for the last time before our new insurance kicked in at the beginning of the year. Unfortunately, because of circumstances with...reactionscomments
How I Travel With a Chronic Illness"Still round the corner, there may wait, a new road or a secret gate." – J.R.R. Tolkien Living in a body with a chronic illness is a challenge. My spirit...reactionscomments
Bowled Over Again (in a Good Way!): Being Proactive With My Health GoalsMy arthritic left ankle is the thing that affects me the most where my bleeding disorder, hemophilia A, is concerned. Slight and not-so-slight bleeding into that joint over nearly 5...reactionscomments
5 Rare Life Challenges: A Caregiver PerspectiveAs a rare mom, I do my best to hold my head high and remain positive. But the reality is, it's extremely hard. The general public is not well-educated on...reactionscomments
How to Promote Legislative Advocacy for Rare DiseasesCan you imagine living with a condition so rare that it often feels like you are fighting a battle alone? The lack of resources, treatment options, and support can leave...reactionscomments
Role Reversal and the Patient-Caregiver RelationshipI have been a rare disease patient since my first rare disease diagnosis of familial adenomatous polyposis at age 8. My mother (who has the same rare disease as me)...reactionscomments
How to Care for Someone With Congenital Adrenal HyperplasiaCaring for someone with congenital adrenal hyperplasia (CAH) is difficult. A CAH diagnosis can feel overwhelming since it is a lifelong genetic condition without a cure. But with the right...reactionscomments
Founding a Rare Disease Non-profit: The Importance of Advocate Self-careAs an advocate, caregiver, and mom, I am guilty of running on autopilot and failing to acknowledge when my body and mind are extremely tired. Because what choice do I...reactionscomments
Voices in the Rare Disease Community: What's Your Story?Every day, we take in stories from the world around us. We consume them on social media. We read about them in books. We listen to them on podcasts. We...reactionscomments
Tips for Finding the Right DoctorFinding the right doctor can be challenging for anyone, but it seems especially challenging for those of us in the rare disease community who are looking for specialists to help...reactionscomments
Parental Partnership: Supporting Families With a Child Affected by a Rare DiseaseWhen I became a mother at 26 years old and my husband a father at 27 years old, we learned that the future ahead of us would be characterized by...reactionscomments
Coordinating Care With a Rare DiseaseMany general medical practitioners are not educated about rare diseases. This can make it difficult for people with rare diseases to get access to diagnosis and treatment. It can also...reactions1comment
Understanding Primary Biliary CholangitisPrimary biliary cholangitis (PBC) is a chronic condition that affects the liver. Chronic means that it lasts for life. It is also progressive, which means it can get worse over...reactionscomments
3 Ways I Spend Quality Time With Multiple Kids as a Rare Disease CaregiverMy 3 children are nothing alike. My oldest is a sweet and laid-back growing boy who is medically complex and living with a rare disease. My middle is a high-energy...reactionscomments
Understanding Congenital Adrenal HyperplasiaCongenital adrenal hyperplasia (CAH) is a group of rare genetic disorders that affect the adrenal glands. The adrenal glands are 2 walnut-sized organs located above the kidneys. They produce essential...reactionscomments
Developing Elevator Pitches for Rare Disease AdvocacyMost of us are familiar with the term "elevator pitch." An elevator pitch is sharing one's story with another person and requesting action in approximately 5 minutes or less. But...reactionscomments
Groin Wiser: Adopting New Strategies to Manage My Rare DiseaseI recently wrote an article, Groin Older: Aging With Hemophilia, where I described my life with the bleeding disorder, hemophilia. My first pulled groin muscle was the star of the...reactionscomments
Was I Just Soft? A Reflection on Getting a DiagnosisGetting diagnosed with hypermobile Ehlers-Danlos syndrome (hEDS) in my late 20s had an impact on the way I see myself. hEDS is a genetic disease, and I was born with...reactionscomments
How to Observe Rare Disease Awareness DayI admit that I cannot resist the rare disease zebra branding. It's cute; zebras are close enough to horses to make my horse girl self happy, and unlike other rather...reactionscomments
