'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...reactionscomments
How Is Hypoparathyroidism Treated?...The parathyroid glands are small glands located in the neck next to the thyroid glands. You have 4 of them and they...
How Is Gaucher Disease Treated?...Gaucher (go-SHAY) disease is a rare, inherited genetic disorder. While Gaucher disease is rare, it is one of the most common of...
Medicaid Needs to Do Better for Rare Patients and Families...I recently took my 3 children to their pediatrician for the last time before our new insurance kicked in at the beginning...reactionscomments
Bowled Over Again (in a Good Way!): Being Proactive With My Health Goals...My arthritic left ankle is the thing that affects me the most where my bleeding disorder, hemophilia A, is concerned. Slight and...reactionscomments
The Impact a Rare Cancer Has Had On My Life...Being diagnosed with cancer 16 years ago changed my life forever. Nothing can prepare your mind, or body to be told you...reactions2comments
How Is Fabry Disease Treated?...Fabry disease is a rare, inherited condition caused by a mutation in the GLA gene. This gene is found on the X...
How Is Amyotrophic Lateral Sclerosis Treated?...Amyotrophic lateral sclerosis (ALS) is a disease of the nervous system that gets worse over time. It is also known as Lou...
What Is an Orphan Drug?...Rare diseases are sometimes called "orphan diseases" because they are neglected by the medical community or affect very few people. "Orphan drugs"...
How Are Neuroendocrine Tumors Treated?...Neuroendocrine cells are specialized cells with traits similar to both nerve cells (neuro) and hormone-releasing cells (endocrine). Neuroendocrine cells are found throughout...
How Is Idiopathic Pulmonary Fibrosis Treated?...Idiopathic pulmonary fibrosis (IPF) is a serious lung disease. It occurs when the tissue around air sacs (alveoli) in the lungs gets...
5 Rare Life Challenges: A Caregiver Perspective...As a rare mom, I do my best to hold my head high and remain positive. But the reality is, it's extremely...reactionscomments
You're Just Complicated...Have you ever been told that you are complicated by a medical professional? I have time and time again. My journey started...reactions2comments
How to Promote Legislative Advocacy for Rare Diseases...Can you imagine living with a condition so rare that it often feels like you are fighting a battle alone? The lack...reactionscomments
Founding a Rare Disease Non-profit: The Importance of Advocate Self-care...As an advocate, caregiver, and mom, I am guilty of running on autopilot and failing to acknowledge when my body and mind...reactionscomments
When Stubbornness Pays Off...I knew from childhood that there was something different in my health from other kids. It seems as if I was born...reactions2comments
It's Just the Way You Are...I just turned 60. I have been questioning many things, regarding my health, for as long as I can remember. I went...reactions3comments
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...reactionscomments
Groin Older: Aging With Hemophilia...As a child born in the mid-70s with hemophilia, I was part of a unique generation. Access to new treatments made a...reactions4comments
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...reactionscomments
