My rare disease caused my kidney failure ...I have a condition called FHx suggestive of Inverted Formin (INF2) mutation with peripheral neuropathy it is what caused me to have kidney failure and a bad disease called CMT...Reactions0reactionsComments6 replies
Coordinating Care With a Rare Disease...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...Reactions0reactionsComments1 comments
Understanding Primary Biliary Cholangitis...Primary 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...Reactions0reactionsComments0 comments
3 Ways I Spend Quality Time With Multiple Kids as a Rare Disease Caregiver...My 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...Reactions0reactionsComments0 comments
What do you guys think this is ...I have a couple of things going on but I don’t have a diagnosis yet but wanted to see what you all think is going on. I have drop foot...Reactions0reactionsComments1 repliesDiagnosisTips & Advice
Understanding Congenital Adrenal Hyperplasia...Congenital 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...Reactions0reactionsComments0 comments
Developing Elevator Pitches for Rare Disease Advocacy...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...Reactions0reactionsComments0 comments
Blood Test...Had a Parathyroid Test today. Came back high. Should I be worried?...Reactions0reactionsComments1 replies
Groin Wiser: Adopting New Strategies to Manage My Rare Disease...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...Reactions0reactionsComments0 comments
Living With Adult-onset Still's Disease?...Has anyone been diagnosed with adult-onset Still's disease? What was your diagnosis experience like? How do you manage life with AOSD?...Reactions0reactionsComments0 repliesCopingDiagnosis
Was I Just Soft? A Reflection on Getting a Diagnosis...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...Reactions0reactionsComments0 comments
Mast Cells trigger my self ...anyone else have Mast cell and histamine problems? hot and cold intolerance?...Reactions0reactionsComments6 repliesAwarenessSymptoms
How to Observe Rare Disease Awareness Day...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...Reactions0reactionsComments0 comments
The Overflowing Cup: Childhood Trauma and Mental Health...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...Reactions0reactionsComments3 comments
Why Joining Your Rare Disease Community Is Important...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...Reactions0reactionsComments0 comments
Unknown pain disease?...Looking for help with my condition. After seeing multiple Dr’s the past three years and the last being a neurologist. It’s a mystery as to what is going on. These...Reactions0reactionsComments9 repliesSymptoms
Does anyone here have Mast Cell Activation Syndrome?...Trying to decipher if I should be avoiding My Trigger Foods altogether or if it's not The Top Couple of Ingredients I can eat it, or if it doesn't cause...Reactions0reactionsComments4 repliesDiet & NutritionSymptomsTips & Advice
20 Essential Self-care Practices for Rare Disease Caregivers: My Journey to Resilience...Being a caregiver for someone with a rare disease is an incredibly rewarding yet demanding role. Learning how to advocate for my daughter gave me a sense of purpose and...Reactions0reactionsComments0 comments
Making My Home Disability Friendly Now Rather Than Later..."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...Reactions0reactionsComments3 comments
Recovering From Advocacy Burnout...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...Reactions0reactionsComments0 comments