We are Bob and Yvonne Rauner. We are the parents of our two sons, Kevin and Paul, who had adrenoleukodystrophy and adrenomyeloneuropathy. Our story began with all the same challenges ALD families faced at the time. We navigated a three-year diagnostic odyssey with Kevin. He was “diagnosed” with ADHD and treated for it but yet …
A Legacy of Hope: Join Bob & Yvonne in Supporting the ULF Read More »
The article “Analysis of GFAP Variants in UK Biobank Suggests Underdiagnosis or Incomplete Penetrance of Adult-Onset Alexander Disease” investigates the prevalence and clinical significance of mutations in the GFAP gene, which are linked to Alexander disease. This rare neurodegenerative disorder affects the white matter of the central nervous system, leading to a progressive decline in …
I’m Jen Martin-Cutler, proud mom to Clark, my handsome ginger son diagnosed with Pelizaeus-Merzbacher Disease (PMD) in December 2015 at 11 months old. Clark’s leukodystrophy journey began with challenges like delayed milestones, difficulty swallowing, and nystagmus, leading us to specialists at Lurie Children’s Hospital. His care team included experts in genetics, pulmonology, neurology, ENT, and a …
The article “Vanishing White Matter Disease in Children: An Unusual Association, a Novel Mutation, and a Literature Review” explores Vanishing White Matter Disease (VWMD), a rare genetic disorder that affects the brain’s white matter. This study presents a case involving a novel genetic mutation, contributing to the understanding of the disease’s complexity. VWMD is caused …
The article “A novel homozygous PSAP mutation identified by whole exome sequencing in a consanguineous family with metachromatic leukodystrophy: a case report” describes a rare genetic mutation linked to metachromatic leukodystrophy (MLD), a devastating lysosomal storage disorder. Here’s an explanation of the study and its significance: What is Metachromatic Leukodystrophy (MLD)? MLD is a genetic …
My name is Margaret Halter. My husband, John, was diagnosed with Adrenoleukodystrophy (ALD)/Adrenomyeloneuropathy (AMN) in 1989 at the age of 31. We’ve been married for 41 years, live on a beautiful farm in Ohio, and have two children, a daughter and a son, both with families of their own. Our daughter is a carrier with no …
Living with ALD: A Journey of Strength and Community Read More »
The study “Accumulation of Ether Phospholipids in Induced Pluripotent Stem Cells and Oligodendrocyte-Lineage Cells Established from Patients with Sjögren-Larsson Syndrome” investigates a rare genetic disorder called Sjögren-Larsson Syndrome (SLS) using advanced stem cell techniques. Here’s a simpler explanation of what the researchers did and found: What is Sjögren-Larsson Syndrome? SLS is a condition caused by …
Press Release Summary (December 11, 2024): Minoryx Therapeutics, a late-stage biotech company, and Neuraxpharm Group, a European specialty pharmaceutical firm, announced positive outcomes from the NEXUS trial, a pivotal 96-week study evaluating leriglitazone in pediatric patients with cerebral Adrenoleukodystrophy (cALD). The trial demonstrated a significant 35% arrest of disease progression in treated patients, compared to …
The article, “Human iPSC-derived myelinating organoids and globoid cells to study Krabbe disease”, explores innovative in vitro methods to study Krabbe disease (KD), a severe lysosomal storage disorder. Using induced pluripotent stem cells (iPSCs), the research develops human-based models that replicate key aspects of the disease, providing insights into its mechanisms and potential therapeutic approaches. …
Human iPSC-derived myelinating organoids and globoid cells to study Krabbe disease Read More »
My name is Mousumi Bose, and I am the mother of Ilan Betzer. Ilan was born in August 2010 and was soon diagnosed with Zellweger spectrum disorder, a rare peroxisomal disorder that is categorized as a leukodystrophy. As his disease progressed, our journey with Ilan was marked by complex challenges. Ilan passed away just after his first …
A Special Year-End Message from Dr. Mousumi Bose Read More »
