An estimated 47% of infants have some form of plagiocephaly (a flat spot on the head), and up to 10% will eventually need a corrective helmet to help reshape their skull. Some…
The U.S. Food and Drug Administration (FDA) is reviewing the first medication specifically developed for Barth syndrome, a rare and life-threatening genetic disorder. As reported by STAT, this medication could…
After more than a decade of development, families say time is running out for children with Barth syndrome as the experimental therapy elamipretide faces yet another regulatory delay. Reported by…
In 2023, Marley Mansour of Rowlett, Texas and her family were told that Marley had an extremely rare genetic condition called NARS1 disorder. Now, Marley is the world’s first person…
This article was written by and shared with permission from Shannon Wieloch, MS. Shannon is a certified genetic counselor and patient advocate for the Aicardi-Goutiere Syndrome Advocacy Association and founder of Stork Genetics.…
Rare Community Profiles is a Patient Worthy article series of long-form interviews featuring various stakeholders in the rare disease community, such as patients, their families, advocates, scientists, and more.…
Three years after the U.S. Food and Drug Administration (FDA) first placed a full clinical hold on Larimar Therapeutics’ Phase 2 clinical study, the hold has officially been lifted. The…
You've heard of kidney transplants. You've heard of liver transplants. And you've probably even heard of lung transplants. But have you heard of skin transplants? In many cases, skin transplants…
Testing for rare conditions can be costly and time-consuming. In India, testing for spinal muscular atrophy (SMA), a rare genetic disorder, has traditionally cost between 3500 INR to 7000 INR…
Charcot-Marie-Tooth disease (CMT), though rare, is one of the most commonly inherited neurological disorders and affects peripheral nerves outside of the brain and spinal cord. Multiple CMT subtypes exist based…
Welcome to Study of the Week from Patient Worthy. In this segment, we select a study we posted about from the previous week that we think is of particular interest…
Rare Community Profiles is a Patient Worthy article series of long-form interviews featuring various stakeholders in the rare disease community, such as patients, their families, advocates, scientists, and more.…
Ronald Acuña Jr. is a professional baseball player with the Atlanta Braves. The powerhouse player is known for being an NL MVP and for becoming the first player in Major…
Rare Community Profiles is a Patient Worthy article series of long-form interviews featuring various stakeholders in the rare disease community, such as patients, their families, advocates, scientists, and more.…
The overwhelming majority of rare diseases and conditions have a genetic basis. This means that the disease is the result of a genetic abnormality such as a mutation. These abnormalities…
Editor's Note: Chronic conditions and rare diseases don't discriminate, Patient Worthy and its partners are interested in amplifying the voices of those from all identities and backgrounds. If you have…
Have you ever heard of Marfan syndrome? This rare inherited disorder affects connective tissue in the body. Connective tissue supports organs and bodily structures like your skeleton, blood vessels, eyes,…
The Binder family never expected that their 12-year-old twins, Grady and Jace, would be diagnosed with a rare genetic disorder. In fact, this particular disorder is so rare that it…
For the first six months of his life, Miller Gamberi seemed to be a happy, healthy boy. But his health suddenly shifted; Miller stopped wanting to eat and drink. His…
Do you have cystic fibrosis? Are you searching for a stronger sense of community? Then BreatheCon, the unique virtual event spearheaded by the Cystic Fibrosis Foundation, is perfect for you! …
Healio Psoriatic Disease recently reported that Vyjuvek (beremagene geperpavec-svdt), a topical gene therapy designed for people with dystrophic epidermolysis bullosa (DEB), was granted Orphan Drug designation (ODD) by the Japanese…
In March 2022, the U.S. Food and Drug Administration (FDA) decided against the approval of oleogel-S10 for epidermolysis bullosa (EB); the FDA noted that, prior to approval, it would need…
Four-year-old Emmett Doucette is currently fascinated by firemen, dinosaurs (he has a favorite T-rex toy!), and toy race cars. He’s known to wear a fun fireman outfit and he loves…
When it comes to rare and chronic conditions, awareness is important. Oftentimes, disease-specific information remains within the community; many others are informed about the impact of these conditions. Awareness not…
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…
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