How Therapies Treated My Musculoskeletal Injuries from Rare DiseaseDue to short bowel syndrome (SBS), I've endured years of malnutrition, and even the years I've been well-nourished, I still have nutrient...reactions1comment
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...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...reactionscomments
Who Am I? A Journey About IdentityNot long ago, I had a conversation with my daughter that caught me off guard, though not for the reasons one might...reactions3comments
Tips for How to Set Boundaries With OthersMore likely than not, if you're reading this, then you've likely experienced someone crossing your boundaries as a chronic illness/rare disease patient...reactions11comments
Are You at Risk for MAC Lung Disease?MAC lung disease is caused by Mycobacterium avium complex (MAC) germs. MAC germs are all around. They live in soil, water, household...reactionscomments
Living With X-linked HypophosphatemiaX-linked hypophosphatemia (XLH) is a rare genetic condition that lasts a person’s entire life. It is caused by a mutation in the...reactionscomments
X-linked Hypophosphatemia and GeneticsX-linked hypophosphatemia (XLH) is a genetic condition. People with XLH have changes in a specific gene that affect how their body uses...reactionscomments
Questions to Ask Your Doctor When You Have X-linked HypophosphatemiaReceiving a diagnosis of X-linked hypophosphatemia (XLH) can be challenging and overwhelming at first. Whether you are diagnosed as a baby, a...reactionscomments
What to Expect After a MAC DiagnosisBeing diagnosed with MAC lung disease is overwhelming for many people. The good news is that most infections with Mycobacterium avium complex...reactionscomments
Transitioning to Adult Care With Congenital Adrenal HyperplasiaCongenital adrenal hyperplasia (CAH) is a lifelong condition that affects the adrenal glands, causing hormonal imbalances. For those with CAH, moving from...reactionscomments
Starting a Family When You Have Congenital Adrenal HyperplasiaCongenital adrenal hyperplasia (CAH) is a genetic condition that can affect people of any sex. This is a rare condition that can...reactionscomments
Navigating Overnight School Trips When Your Child Has a Rare DiseaseAs a parent of a child with 2 chronic conditions, preparing my daughter for an overnight school field trip without me was...reactions2comments
Early Intervention Gave Me HopeWhen I first heard, "Your child has a global developmental delay," my heart shattered. At 22, a new and young mom, I...reactions1comment
Calling Out with GraceI try to approach life by considering others' perspectives, not just mine. Sometimes, though, I fail at this. As a rare disease...reactions5comments
My Child May Have a Rare Disease, but I Still Dream Big Dreams for Her15 years ago, I became the mother of a daughter who lives with a rare disease. My daughter has a rare disease...reactions3comments
How to Deal With Letdowns in Your Awareness EffortsAs I shared in a previous article, rare disease advocacy can include writing and requesting proclamations. Proclamations can be made by organizations...reactionscomments
Rare Disease, Death, and No Clear-cut AnswersI have been fortunate to have my mother and grandfather to share my rare disease journey with me, as one of our...reactions2comments
10 Empowering Tips to Prepare Your Child Living With a Rare Disease for CollegeI want to talk to you about something close to my heart – preparing your high school child living with a rare...reactions5comments
From Heartbreak to Hope: Turning Our Rare Disease Journey Into a MissionOur rare disease journey began with concerns that the pediatrician dismissed as normal quirks. My child was slow to reach milestones, but...reactions1comment
