Living

My 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...

Can 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...

I 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)...

As 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...

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...

Finding 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...

Many 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...

Most 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...

I 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...

Getting 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...

I 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...

Recently, I tried a new form of therapy: hypnotherapy.  After 5 and a half years of counseling, I decided that while it was incredibly helpful, I also needed another form...

When my son originally got his rare disease diagnosis back in 2020, I was told about a private Facebook group for families. At first, I was hesitant to join because...

"Why do you think you would need wheelchair-accessible doors in your home?" I answered simply that I was previously required to obtain a wheelchair and utilize it to participate in...

Advocacy burnout can look different for different people. Burnout can present itself in many different ways. Some possible signs of rare disease advocacy burnout can include excessive fatigue, lack of...

Whenever I encounter new medical providers at any level of care, they are often surprised to discover that I have a do-not-resuscitate (DNR) order and I’m not even age 40...

Recently, a friend of mine, Fiona, visited her cardiologist. She has been having some troubling symptoms that have been going on for several years now. Although she had been to...

A special trip to New York City was a little over 24 hours away. I was going to honor one of my favorite humans, Georgia Arnold, for her contributions to...

As our family's rare disease community (VAMP2) continues to grow, I am often frustrated with the professionals who are giving this diagnosis to new families. I feel that they believe...

Living with a genetic condition like congenital adrenal hyperplasia (CAH) can pose unique challenges. But CAH does not have to define a person’s life. With the right treatment plan, most...