Researchers have previously linked TREX1 gene mutations to the development of a rare inherited small vessel disease called retinal vasculopathy with cerebral leukoencephalopathy (RVCL). What researchers didn't know was why these genetic…
Rare Disease Day may be long past in February, but the fight for rare disease awareness continues. Earlier this year, specialty pharmaceutical company Neuraxpharm Group ("Neuraxpharm") and biotechnology company Minoryx…
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.…
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…
A majority of available treatment options for metachromatic leukodystrophy (MLD) rely on relieving symptoms. However, the recent approval of Lenmeldy (atidarsagene autotemcel) is the first ever FDA-approved gene therapy option…
'Newborn screening in leukodystrophies' by Lucia Laugwitz February 20, 2024 Educational webinars on rare neurological, neuromuscular and movement disorders jointly organized by the European Reference Networks for Rare Neurological Diseases…
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,…
In 2019, South Carolina Governor Henry McMaster signed Dylan’s Law into effect. This law was passed in the wake of Dylan Emery’s death. The young boy had Krabbe disease, a…
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…
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Growing up, Priscilla Veneklause watched as her father struggled to manage his rare genetic disorder: adrenoleukodystrophy (ALD). Unfortunately, her father lost his fight with ALD when Priscilla was still…
Every day, Jackson Garwood’s parents, Darren and Rebecca, look at him and smile. There were points when they didn’t expect to have their son for this long. You see, Jackson…
Ally and Jake Shaw always dreamed of having a big, happy family. The pair began their journey with their daughter Nala, now just under 3 years old, and later brought…
Unfortunately, doctors and scientists are still learning about Zellweger syndrome, a rare multisystem genetic disorder. But this can be incredibly difficult for families whose children are diagnosed – after all,…
Kris and Carla Thompson were so thrilled when they learned that they would be expecting a daughter. When Lucy was first born, Carla describes her as a cheeky, upbeat, and…
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…
Celia Grace, a metachromatic leukodystrophy (MLD) patient from Alabama, has recently made history in Minnesota - and she's just five years old! Celia recently underwent an investigational gene therapy to…
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…
Digital Community Weekend November 20-21, 2021 Alex, The Leukodystrophy Charity (Alex TLC) provides invaluable support and information to people affected by a genetic leukodystrophy. We are holding a digital community…
Canavan disease is an ultra-rare condition that currently has no FDA-approved therapies, meaning that patients face a severe unmet medical need. BridgeBio Pharma aims to change this with their investigational…
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…
A rare disease diagnosis is often shocking, and it means making life changes. An adrenoleukodystrophy (ALD) diagnosis is no exception. Because this condition typically impacts children, parents have to make…
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 Stem Cells News; finding the right donor for people in need of bone marrow transplants can be very tricky. This is because finding the correct match between…
The 2020 Virtual Family Conference June 25-27, 2020 This event features live streamed webinars featuring leukodystrophy researchers and relevant content for leukodystrophy patients and their families. The conference will also…
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