Participating in a Focus Group as a Rare Disease Patient...Recently, the Cystic Fibrosis (CF) Foundation invited me to participate in a focus group with other late-diagnosed CFers. It was a fascinating...reactionscomments
Rare Disease Statistics...There are between about 5,000 and 10,000 conditions that are called rare. The US Rare Diseases Act of 2002 defined a rare...
Rare Disease Research...Rare diseases present a special challenge to medical research. There are thousands of rare diseases. And more are being found each year...
Myths and Misconceptions About Rare Diseases...People with rare diseases sometimes have to deal with misconceptions other people have about what it is like to live with a...
Creating Business Cards for Rare Disease Advocacy...Think back to any time you shared about your rare disease with someone. Perhaps it was with a stranger, and it was just in passing. Perhaps it was...reactionscomments
What Are Rare Kidney Diseases?...In the United States, a kidney disease is considered rare if it affects fewer than 200,000 people. There are more than 150...reactions5comments
How Are Rare Kidney Diseases Diagnosed?...Many rare kidney diseases cause long-term damage. This damage can cause the kidneys to work less and less well over time. So...reactionscomments
What Type of Doctors Treat Rare Kidney Diseases?...The kidneys filter extra water and waste out of the blood and make urine. They also make hormones that help control blood...reactionscomments
What to Know About Newborn Screening and Rare Diseases...Newborn screening (NBS) is a program in the United States that tests all babies for certain treatable medical conditions. Early detection and...reactionscomments
What Is a Rare Disease?...The definition of what makes a disease rare is different around the world. In the United States, the government says that a...
Reflecting on My 20th Anniversary With My Rare Disease...My life was upended because of a viral infection 20 years ago. In the fall of 2003, I was working in a...reactionscomments
Questions to Ask Your Doctor About Pompe Disease...Whether it is you or a loved one who is diagnosed with Pompe disease, you likely have many questions about the condition...reactionscomments
Caring for Hudson: Q&A With a Parent Managing Hypotonic Cerebral Palsy...The best thing that has come out of being part of the rare disease community is the passionate, loving, and optimistic people...reactionscomments
How Nature Therapy Helps Me Live Better With a Rare Disease...Access to lush, green natural spaces feels like a privilege to me. As a person living with a rare disease, narcolepsy, it...reactionscomments
Being the Change: How My Advocacy Started...I remember the day the genetic counselor called me with my son's diagnosis. She gave me information about a paper published on...reactionscomments
4 Tips for Communicating With Loved Ones...It can be so hard for people outside of the rare disease community to truly understand what we go through – ongoing...reactionscomments
What to Expect During a Disability Hearing (In America)...My phone buzzed angrily. It was 20 minutes after the hour, and I’d been scrambling about frantically. I was searching for documents...reactions3comments
Rare Disease and Food Insecurity ...Have you ever been so affected by your rare disease that you weren't able to go grocery shopping, leaving your pantry empty...reactionscomments
Inspirational, Courageous Me?!...Someone told me today that I was an inspiration. It's not the first time. In 2010, when I had the immense luck...reactionscomments
"What's Up, Doc?" What the Doctor-Patient Relationship Means to Me...Your relationship with your doctor can have a big impact on your health. Since your doctor is a key member of your...reactionscomments
