Connor’s Leukodystrophy Story
I remember the day I realized something was wrong, as clearly as if it happened this past weekend. It was a beautiful morning in June. I was taking part in…
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Connor’s Leukodystrophy Story
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Marc Nolan’s Announces Partnership with the United Leukodystrophy Foundation
The United Leukodystrophy Foundation (ULF) is proud and excited to announce a partnership with Marc Nolan, a Chicago-based footwear brand, who is launching a new campaign with us “Celebrating life’s…
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Marc Nolan’s Announces Partnership with the United Leukodystrophy Foundation
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Researchers Identify Underlying Disease Mechanism in RVCL
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…
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Researchers Identify Underlying Disease Mechanism in RVCL
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ICYMI: Neuraxpharm and Minoryx’s Special Information Film Raises Leukodystrophy Awareness
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…
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ICYMI: Neuraxpharm and Minoryx’s Special Information Film Raises Leukodystrophy Awareness
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Rare Community Profiles: How Two Parents Are Working to Change the Narrative Around CASK Gene Disorder
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.…
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Rare Community Profiles: How Two Parents Are Working to Change the Narrative Around CASK Gene Disorder
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Raising Vanishing White Matter Disease (VWM) Awareness: How Ella’s Pitch Catalyzed Change
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…
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Raising Vanishing White Matter Disease (VWM) Awareness: How Ella’s Pitch Catalyzed Change
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FDA Approves Gene Therapy Lenmeldy for Metachromatic Leukodystrophy (MLD)
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…
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FDA Approves Gene Therapy Lenmeldy for Metachromatic Leukodystrophy (MLD)
European Reference Networks for Rare Neurological Diseases’ Newborn screening in leukodystrophies by Lucia Laugwitz
'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…
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European Reference Networks for Rare Neurological Diseases’ Newborn screening in leukodystrophies by Lucia Laugwitz
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RI-MUHC Team Develops First Mouse Model of 4H Leukodystrophy
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,…
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RI-MUHC Team Develops First Mouse Model of 4H Leukodystrophy
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Family Advocates for Better Newborn Screening Measures After Son’s Krabbe Disease Diagnosis
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…
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Family Advocates for Better Newborn Screening Measures After Son’s Krabbe Disease Diagnosis
Courtesy of Jacklyn MacNeil
Remembering Rowan: How Jacklyn Honors Her Son’s Memory by Raising Krabbe Disease Awareness
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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Remembering Rowan: How Jacklyn Honors Her Son’s Memory by Raising Krabbe Disease Awareness
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Gene Therapy Saves Boy with ALD
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…
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Gene Therapy Saves Boy with ALD
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Living with Krabbe Disease: Jackson’s Story
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…
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Living with Krabbe Disease: Jackson’s Story
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£8,820 Raised for Family Whose Two Children Have MLD
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…
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£8,820 Raised for Family Whose Two Children Have MLD
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Trying to Enjoy Life with Daughter with Zellweger Syndrome
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,…
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Trying to Enjoy Life with Daughter with Zellweger Syndrome
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Family Raises Zellweger Syndrome Awareness
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…
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Family Raises Zellweger Syndrome Awareness
A Family Raises Tubb4a Leukodystrophy Awareness: Killian’s Story
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…
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A Family Raises Tubb4a Leukodystrophy Awareness: Killian’s Story
Celia’s Story: Giving Back After Metachromatic Leukodystrophy Treatment
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…
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Celia’s Story: Giving Back After Metachromatic Leukodystrophy Treatment
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Mom Raises 4H Syndrome Awareness
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…
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Mom Raises 4H Syndrome Awareness
Alex, The Leukodystrophy Charity’s Digital Community Weekend
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…
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Alex, The Leukodystrophy Charity’s Digital Community Weekend
First Patient Dosed in a Gene Therapy Trial for Canavan Disease
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…
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First Patient Dosed in a Gene Therapy Trial for Canavan Disease
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ION373 Clinical Trial Initiated for Alexander Disease
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,…
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ION373 Clinical Trial Initiated for Alexander Disease
Forge Biologics Cleared for Clinical Trial of FBX-101, a Krabbe Disease Treatment
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…
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Forge Biologics Cleared for Clinical Trial of FBX-101, a Krabbe Disease Treatment
Caring for a Child With Adrenoleukodystrophy
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…
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Caring for a Child With Adrenoleukodystrophy
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Krabbe Disease Treatment Receives Orphan Drug Designation
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…
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Krabbe Disease Treatment Receives Orphan Drug Designation
