Jack’s ASMD Story: Living with Niemann-Pick B
Like many 11-year-old boys, Jack enjoys playing tennis and video games and spending time with his younger brother and friends. But, he also has to cope with the non-neurological form of Acid...
View ArticleGlioblastoma survivor shares his story
Matthew Futer is a seven-year glioblastoma survivor. This is his story. Houston Methodist’s Dr. David S. Baskin, director of the Peak Center, talks about Matthew’s treatment. Learn more about the Peak...
View ArticleOV101 Being Studied in Angelman and Fragile X Syndromes
Angelman syndrome (AS) is a neurodevelopmental disorder characterized by severe intellectual and developmental disability, sleep disturbance, seizures, jerky movements (especially hand-flapping),...
View ArticleTesting Angelman and Fragile X Syndrome Therapies in Younger Patients
Angelman syndrome (AS) is a neurodevelopmental disorder characterized by severe intellectual and developmental disability, sleep disturbance, seizures, jerky movements (especially hand-flapping),...
View ArticlePhenylketonuria (PKU)
Phenylketonuria (also known as Phenylalanine hydroxylase deficiency, and PKU) is an inborn error of metabolism involving impaired metabolism of the amino acid phenylalanine. Phenylketonuria is caused...
View ArticlePatient Caregiver’s Journey in ASMD
A mother of a patient with Acid Sphingomyelianse Deficiency (ASMD) talks about the journey she and her family had taken to help diagnose her son with ASMD. She highlights the support she has received...
View ArticleSandra’s Journey in ASMD (Adult Patient)
Sandra, an adult patient diagnosed with Acid Sphingomyelinase Deficiency (ASMD) describes her long journey of discovering her diagnosis of ASMD. She highlights the need of developing physician-patient...
View ArticleOverview on Understanding Mitochondria?
Mitochondrial disease is a group of disorders caused by dysfunctional mitochondria, the organelles that generate energy for the cell. Mitochondria are found in every cell of the human body except red...
View ArticleRare Conversations: Kendra & Preston
Watch MPS VI patient Kendra share the story behind her powerful connection with BioMarin patient advocate, Preston.
View ArticleRare Conversations: Sheri & Stephanie
Watch the story of the inspiring relationship between Morquio A patient Sheri and her BioMarin patient advocate, Stephanie.
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