7-year-old Isla Edwards suddenly found herself struggling to see. Her vision became fuzzy when trying to focus on objects at a distance. Her parents assumed this meant Isla needed…
617 words (source - 3% match) vs. 452 words (mine - 4% match) As our healthcare field continues to innovate and grow, we have seen more conversations regarding gene therapy…
As many people in the rare disease community know, it can be difficult at times to galvanize support for improved drug development. Many larger pharmaceutical companies may be hesitant to…
Rare Community Profiles Rare Community Profiles is a new Patient Worthy article series of long-form interviews featuring various stakeholders in the rare disease community, such as patients, their…
Galila Yohannes’ parents, who originally hail from Eritrea, brought their family to Israel for a better life. And while they never would have expected what came next, this move likely…
As our understanding of genetics increases, so does our awareness of the multitude of genetic diseases—many of which continue to be discovered to this day. While X-linked lymphoproliferative disease (XLP)…
Every parent hopes that their child will be born safely and healthily. But for one family in India, their daughter’s birth brought a host of concerns about her health. From…
Rare Community Profiles Rare Community Profiles is a new Patient Worthy article series of long-form interviews featuring various stakeholders in the rare disease community, such as patients, their…
The Progeria Research Foundation reports that as of March 2023, there are 193 children and young adults living with progeria or progeroid laminopathies in 51 countries across the globe.…
For many rare diseases, gene therapy, not traditional therapeutics, is perhaps the only means to significant relief and cure. However, the path to gene therapy has been strewn with obstacles…
There are still many unknowns when it comes to our genetics. How do gene variants of unknown significance (VUS) affect us? In what ways can we identify if variants…
People with rare undiagnosed conditions present challenges to doctors when they are attempting to understand the root causes of their patient’s health problems. A recent article in Medical Xpress reports…
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…
Charlie and Megan Hieb would do anything to help their daughters, Nora and Lucy. They would truly go to the ends of the earth to ensure that their daughters…
The 2023 Special Olympics BC Winter Games took place from February 2-4, 2023. Sporting events at Winter Games include 5-pin bowling, curling, figure skating, alpine or cross-country skiing, and more!…
Before you read on, make sure to check out Part 1 of Emily's story. In Part 1, Emily discusses what Stickler syndrome is and her diagnostic journey. Today, we'll discuss coming to…
In the reality television world, Megan Marx is best known for her time on Bachelor Australia, Bachelor in Paradise, and The Challenge Australia. But Marx is about to be…
Living with a rare genetic disease like Stickler syndrome (Or “Sticklers”) isn’t a death sentence. If Emily Katharine wants people to know one thing, that’s it: that they are more…
Before you read on, make sure to check out Part 1 of our interview where we discuss what SLC6A1 is and Aubrey's diagnostic journey. Today, we'll be discussing what it's like to…
When Erika Vandenberg learned that her daughter Aubrey had a rare genetic disorder called SLC6A1, her first two reactions were fear and relief. Relief because they finally had a name…
In the past, there have been a variety of research studies exploring and working to learn more about cystinuria, a rare genetic condition causing cystine, an amino acid, to accumulate…
Don't forget to check out Part 1 of our interview with Katheron Intson, where we discussed her background, her research experience in GRIN1, and the reasons behind why she developed…
Christian Maugee and Shandra Trantham met as undergraduates at the University of South Florida (USF) and immediately clicked. Their first chance meeting was in the disability office. It was here…
April 15, 2022 marks the 9th annual International Pompe Day, designed to help raise awareness and education around Pompe disease. The slogan of International Pompe Day is "Together We…
Currently, no approved therapies exist for ADNP syndrome, a rare genetic neurodevelopmental disorder. But a group of researchers from the UC Davis MIND Institute are working to change that. According…
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