Rare Diseases and Preparing for an Emergency...Medical emergencies are certainly no fun, especially when a rare disease is in the mix. However, being prepared for a potential emergency...reactions2comments
The Power of a Name: Why a Rare Disease Diagnosis Matters...Recently, a friend of mine, Fiona, visited her cardiologist. She has been having some troubling symptoms that have been going on for...reactionscomments
What If I Hadn't Been Born With a Rare Disease?...There's a Marvel Comics series called "What If...?" It offers mind-bending scenarios about what could have happened if one little thing was...reactionscomments
Navigating Life with a Rare Disease: An Accessibility Story...The most consistently bothersome aspect of living with hemophilia is my left ankle. Due to both minor and, on rare occasions, major...reactions3comments
Rare Diseases, Disability, and Self-Identity: I Am More Than My Condition...I didn't always see myself as someone living with a rare disease. For years, I fought to hold onto the life I...reactions6comments
Xanadu I or Don't I? A Rare Disease Roller Skating Odyssey...In the earliest days of the COVID-19 pandemic, my partner Gwenn and her friends decided to order roller skates and take a...reactions1comment
How I Get Through Tough Days...Humor plays a huge role in my life. I'm pretty open about having hemophilia A, and I rarely miss an opportunity to...reactionscomments
Parental Partnership: Supporting Families With a Child Affected by a Rare Disease...When I became a mother at 26 years old and my husband a father at 27 years old, we learned that the...reactionscomments
10 Things I Wish People Understood About Rare Diseases...Being a caregiver to someone with a rare disease can be a complex journey. It not only alters the life of the...reactionscomments
Embracing Diverse Coping Mechanisms as Parent Caregivers...As a parent caregiver raising a child with a rare disease, my journey has been filled with different challenges, victories, and profound...reactionscomments
Keeping Your Family Connected When Raising a Child With a Rare Disease...Raising a child with a rare disease extends beyond medical hurdles – it encompasses emotional and familial challenges. The impact ripples through...reactionscomments
5 More Practical Tips to Thrive After a Kidney Transplant...In part one, 5 Practical Tips to Thrive After a Kidney Transplant, I discussed the pertinent things that you need to keep...reactionscomments
Living for the Moment: Doing the Unexpected With Pompe Disease...It was 2018, and I turned 50 years old in March. The following month, we lost our oldest son to a brain...reactionscomments
Pompe Disease and Genetics...Pompe disease is a genetic condition. People with Pompe disease have changes in specific genes that impact how they break down sugar...reactionscomments
Nutrition and Exercise With Pompe Disease...Right now, there is no cure for Pompe disease. The main treatment is enzyme replacement therapy (ERT). ERT drugs help replace the...reactionscomments
How Is Pompe Disease Treated?...Pompe disease is a rare, inherited disease in which the body cannot process glycogen, a type of sugar. People with Pompe disease...
Pompe Disease: What You Need to Know...Pompe disease is a rare genetic condition that affects the muscles that connect to your bones and heart. It is also called...reactionscomments
From One Caregiver to Another: What I Learned After My Child's Diagnosis..."You are not alone." These are the 4 most common words I choose to tell another caregiver. I know how heavy it...reactionscomments
