Hurler Syndrome (MPS I)
Hurler syndrome is the most severe form of mucopolysaccharidosis type 1 (MPS1), a rare lysosomal storage disease. It is characterized by skeletal abnormalities, cognitive impairment, heart disease, respiratory problems, enlarged liver and spleen, characteristic facies and reduced life expectancy.
Hematopoietic stem cell transplantation (HSCT) is the treatment of choice for patients with Hurler syndrome under 2.5 years of age as it can prolong survival, preserve neurocognition, and ameliorate some somatic features. HSCT should be performed early in the disease course, before developmental deterioration begins. Enzyme replacement therapy (ERT) is recommended and is a lifelong therapy which alleviates non neurological symptoms. The early use of ERT has been shown to delay or even prevent the development of some of the clinical features of this condition. Additional management of Hurler syndrome is largely supportive, and includes surgical interventions and therapies.
For more information, visit the MPS Society.
(taken from the NIH/RareDisease)
Note: As science advances, we continue to experience a fast-evolving landscape of potential new therapies. The families portrayed here offer perspective on coping with rare and/or life-limiting conditions. They also each represent a particular moment in time.
If you are considering a clinical trial for your child, please also see the Courageous Parents Network Guided Pathway on Clinical Trials.