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…
Clinical trials can play a crucial role in understanding diseases, as well as identifying potential therapeutic options. This is especially important in newly identified or poorly understood conditions such as…
Prior studies have suggested that metformin, often used as a first-line treatment for people with type 2 diabetes (T2D0, could confer benefits for Rett syndrome. In particular, prior studies found…
Lauren Bruccoleri and her husband Matthew weren’t initially planning on having their son Grayson. But when Lauren found out that she was pregnant, she was overjoyed. However, Lauren and Matthew…
When Kandise MacLeod was twelve years old, she began noticing various growths and tumors popping up on her bones. These sometimes caused pain or discomfort; in one case, Kandise even…
Seizures associated with conditions such as Dravet syndrome and Lennox-Gastaut syndrome (LGS) can be difficult to treat; these seizures may be treatment-averse and may not respond well to current anti-epileptic…
Have you heard of the pulmonary microbiota, which may also be referred to as the lung microbiome? This refers to the complex collection of microorganisms (bacteria, viruses, bacteriophages, fungi) that…
Stat News recently published comments by Bruce Bloom, collaboration officer at Healx, Cambridge, UK heralding the major advances in the treatment and the study of rare disease during 2022.…
Before you read on, make sure to check out Part 1 of Kristin and Kayden's story. In Part 1, Kristin discusses the diagnostic journey and how Kayden was diagnosed with a dermal…
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