Amber Freed has long been a tireless advocate for the rare disease community. After two years of IVF, she became pregnant with her two children: Maxwell and Riley. About four…
Within the last year, there have been spates of cholera outbreaks in multiple countries across the globe; over the past few months, these outbreaks have touched at least 22 different…
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…
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…
It’s incredibly important to raise rare disease awareness, spread education, and contribute to a more inclusive and equitable world. One of the best ways to start? Through children. Teaching the…
Jacklyn and Derrick Shaw have supported each other through some of the toughest and most complicated situations that anyone could go through, from a rare disease diagnosis to the loss…
From February 28 to March 2, rare disease advocates met in Washington, DC for the 12th Annual Rare Disease Week on Capitol Hill. Organized by Rare Disease Legislative Advocates (RDLA),…
Read Parts 1 and 2 of Katie's story, where we discuss the diagnostic journey, precocious puberty, and Katie's ZMYM2-related disorder diagnosis. Potential ZMYM2 Symptoms and the Need for Research The geneticist mentioned that symptoms…
February 28th is recognized as Rare Disease Day around the world each year. This day is intended to bring recognition and awareness to the plight of the millions of people…
Make sure to check out Part 1 of the Schroeder family's story before reading further. CURED Currently, the Schroeder family is doing as well as they can to manage and to ensure…
Before you read on, make sure to check out Part 1 of this story. What is Shwachman-Diamond Syndrome (SDS)? First identified in 1964, Shwachman-Diamond syndrome (SDS) is a rare inherited condition that…
The goal of polymyalgia rheumatica treatment is to reduce inflammation and control or manage the other symptoms. As such, the current standard-of-care includes long-term corticosteroid treatment. According to MedPage Today,…
When asked about the key way that the medical field can better serve patients, Pari Schroeder doesn’t waver: multidisciplinary care. She acknowledges that the medical system can often be very…
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…
According to a news release from mid-January 2023, the FDA granted Rare Pediatric Disease designation to SYNB1934 for phenylketonuria. This designation is granted to drugs or biologics being developed for…
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…
In the first year after her daughter Nora’s Shwachman-Diamond syndrome (SDS) diagnosis, and her daughter Kayla’s subsequent diagnosis, Lisa Superina raised over $130,000 towards SDS research. She held a comedy…
Contributed by Jane Larkindale and Alayna Tress While millions of people globally are living with a rare disease, patients often find it difficult to feel seen or heard throughout their…
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…
Rare Pediatric Disease designation (RPDD) is granted by the U.S. Food and Drug Administration (FDA) to drugs or biologics in development for rare pediatric diseases. In the United States, “rare”…
Make sure to read Part 1 of Kandise's story. In Part 1, she discusses some of the symptoms of hereditary multiple exostoses (HME), as well as how she finally reached a diagnosis.…
Contributed by Anna Ellis Every February 28, millions of people around the world participate in Rare Disease Day to raise awareness about the more than 10,000 identified rare diseases that affect…
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…
Ready to read? Before you do, make sure to check out Parts 1 and 2 of Tracy's story. In Part 1, Tracy describes the symptoms that led her to pursue a diagnosis. Part 2…
Rare Disease Week on Capitol Hill February 28-March 2, 2023 NOTE: Rare Disease Week on Capitol Hill 2023 is an in-person event with some events accessible via livestream. Meetings with…
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