When you’re a baseball fan, any chance you get to join in and really experience the game is amazing. Seven-year-old Ella McKee has always been fascinated by baseball. She loves…
During her postdoctoral studies, Dr. Geneviève Bernard first discovered the gene responsible for 4H leukodystrophy (also known as 4H syndrome), a rare disease affecting the central nervous system. Now,…
The journey to a rare disease diagnosis can be long and daunting - and, in some cases, may mean facing a few misdiagnoses first. According to KTVB7, this is what…
24-year-old Georgia Hughes was concerned when she noticed that her son Myles, age 3, had missing teeth. After a number of doctor visits and MRIs, Myles was diagnosed with 4H…
Dave and Kendra Riley have a beautiful family: them and their daughters Eva, Kiera, and Olivia. Yet the family has faced some scary and difficult obstacles over the last…
In a recent press release, RNA-targeted therapeutics company Ionis Pharmaceuticals, Inc. ("Ionis") shared the initiation of a Phase 2/3 clinical trial evaluating ION373 for patients with Alexander disease (AxD). Currently,…
The FDA has recently cleared an Investigational New Drug (IND) application for FBX-101, allowing it to move into a Phase 1/2 clinical trial. This gene therapy was developed for the…
In a recent press release, gene therapy company Orchard Therapeutics ("Orchard") announced that the FDA approved Orchard's Investigational New Drug (IND) application for OTL-200. This gene therapy solution is…
A new treatment for Krabbe disease, PBKR03, has recently been granted the Orphan Drug and Rare Pediatric Disease designations by the FDA, according to an article in GlobeNewswire. These designations…
As reported in Biospace, the National Organization for Rare Disorders (NORD) has just opened registration for patients to take part in a natural history study on metachromatic leukodystrophy (MLD), a…
A recent study published in the journal Blood Advances has documented that hematopoietic stem cell transplantation (HSCT) is both safe and effective for children with many different kinds of inherited nonmalignant conditions…
During the 10th European Conference on Rare Diseases & Orphan Products, hosted by Eurodis, many people advocated for improved newborn screening panels. In particular, these panels should include more testing…
As reported in PressReleasePoint, Researchers at the University of Sheffield have found a clue to the cause of a set of rare neurological disorders known as leukodystrophies- an issue with…
This was originally published as the Seventh Newsletter for the Leukodystrophy Resource Research Organisation (LRRO) on April 19th 2020. You can read more from their newsletter here. To state the blatantly…
A recent University of Sheffield news release explores findings which highlight a potential cause of leukodystrophies: immune cells. This group of rare childhood neurological disorders impacts the myelin sheath, the…
A team of researchers recently clarified how cellular mechanisms work in the treatment of Krabbe disease. Previously, researchers believed that bone marrow transplants assisted in providing positive patient outcomes through…
According to a story from koco.com, the community of Ada, Oklahoma, recently held a birthday celebration for a local affected by Alexander disease. Hunter Goodwin recently turned 18 years old,…
Rare Disease Institute The Rare Disease Institute (RDI) is a new initiative aimed at improving collaboration between rare disease stakeholders. The aim is to facilitate faster diagnosis and better care…
When your child receives a rare diagnosis that needs instant care, you don't have time to contemplate finances and plan out your budget. You just have to act. That was…
By Caitlin Seida from In The Cloud Copy Although it’s already known that the cause of Alexander disease (AxD), a type of leukodystrophy, is a misfolded protein known as GFAP.…
Finding the correct doctor for treatment can be difficult, especially if one has a rare disease. Because few doctors specialize in rare diseases, they are often spread across the…
The development of treatments and medicines for diseases can take a long time. These treatments come from many hours of research, studies, trials, and waiting for approval from the…
Cure GM1 Foundation is hosting a family meeting filled with hope on Friday, September 20th! This gathering will be focused on community, clinical development and research updates, patient advocacy, and…
Patient Worthy had the privilege of attending another United Leukodystrophy Conference. The ULF’s 2019 event took place at the end of June in Illinois and had a record setting number…
According to a story from CBS Philly, Jackson Guernsey, who is just two years old, was diagnosed with rare leukodystrophy just six months ago. While the disease has been taking…
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