Emergency Room (ER) doctors are gradually being replaced by physician assistants and nurse practitioners. The Neiman Institute reported that between 2005 and 2020 the number of ER visits with midlevel…
A town hall meeting was held on February 7th of this year to discuss designs for clinical trial gene therapies. According to a report in Pharmaceutical-Technology, the FDA experts were…
Before you read on, make sure to check out Part 1 of our interview. In Part 1, Kyla discusses the two-year diagnostic odyssey that brought her to the point of her Gleich…
At nearly 33 years old, Kyla McGaughey has overcome more challenges that many people can imagine. Her medical journey began in 2019 and it took over two years for her…
When she was just 26 years old, Lisa McNeil had a pulmonary embolism (a condition in which a blood clot gets stuck in an artery in the lung, blocking…
The Schleswig-Holstein University Hospital and the Max Planck Institute in Germany have investigated a hereditary condition that is extremely rare called brachyphalangy, polydactyly, and tibial aplasia/hypoplasia (BPTA) syndrome. Symptoms…
Patients want to be an integral part of drug development. Their voices have been heard on many topics ranging from the importance of Newborn Screening, choosing meaningful endpoints and meaningful…
Before you read on, don't forget to check out Part 1 of Jennifer's story. In Part 1, Jennifer shared her diagnostic journey and the four year stretch it took her to receive…
Jennifer Reid is no stranger to rare or chronic illnesses. Over her lifetime, she grappled with Guillain-Barre syndrome (GBS) in 2000; it took nearly thirteen years of treatment and rehabilitation…
When Lachlan Lasikiewicz turned gray one day, his lips a frightening blue, his grandma and aunt didn’t panic. They simply wrapped him up in a blanket and held him close,…
Before you read, don't forget to check out Part 1 of our interview with Laura, Nicole's mom. In Part 1, we discuss Nicole's diagnostic journey, what acute lymphoproliferative syndrome (ALPS) is,…
I recall the day, almost six years ago, when I observed the liveliness of joy in one who paraded around in a pink frilly skirt, smiling with merriment while wearing…
Two and a half years — that is how long it took for the Roublick family to learn that their daughter Nicole had an extremely rare condition called autoimmune lymphoproliferative…
Whole genome sequencing is providing high-level information about new rare diseases putting pressure on drug developers to pick up the pace. Of approximately 7,000 rare diseases, most do not have…
The most dramatic. Season. EVER!!! If you've ever watched "The Bachelor" or "The Bachelorette," you've probably heard this refrain from the show's host, talking up the ridiculous antics that keep our eyes…
Compassion [kuhm-pash-uhn] noun A feeling of deep sympathy and sorrow for another who is stricken by misfortune, accompanied by a strong desire to alleviate the suffering. Compassion Corner is a…
On January 26, 2023, the Rare Disease Legislative Advocates (RDLA) hosted their monthly webinar. These webinars help provide updates to the rare disease community on legislation and other policy initiatives…
This is Part 2 of a two part story. Check out Part 1 here. The loss of his child through Edwards Syndrome helped Dr. Harsha Rajasimha understand the suffering and…
The number of identified rare diseases continues to climb every year, with the number recently reaching the 11,000+ mark. Some of them have only a handful of identified cases, and…
Want to learn about scientific topics without needing a PhD? Check out the Science Simplified blog from TESS Research Foundation! Dr. Tanya Brown, PhD, works with researchers to make science…
PART I The baby died almost immediately after birth. Edwards Syndrome is a rare congenital disease. Only about ten percent of newborn babies survive past their first year. Babies…
When Arica Svoboda thinks of her two children, Hayes and Hendrix, she can’t help but fill up with love. She tells Patient Worthy: “My boys are special. Their smiles and…
An opinion expressed by Sheila Frame, President of Americas at Amryt Pharma, was published recently in the Pittsburgh Post-Gazette. Ms. Frame, who serves on the board of the Rare…
The other day I read a post in a dystonia support group that is similar to something I see and hear very often. I’m sure you have as well, and…
Genethon is a non-profit organization committed to the design and development of gene therapies for rare diseases. This unique company is a pioneer in identifying genes relating to genetic…
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