Foundation of Caring Lysosomal Storage Disorder Program

The Foundation of Caring Lysosomal Storage Disorder Program at CHOC is a unique multidisciplinary and comprehensive program for the diagnosis and treatment of children and teens with lysosomal storage disorders (LSD).

CHOC is one of only a few centers in the United States with a specialized program for lysosomal storage diseases. For some disorders, we are the only center on the West Coast to provide specialized treatment. Early diagnosis is critical to starting life-saving treatment.

Care for lysosomal storage disorders is often fragmented, since they cause many different kinds of symptoms. We provide individualized and multidisciplinary inpatient and outpatient care for these conditions.

We offer our patients and families:

• • A comprehensive team of specialists, including board-certified biochemical physicians, neurologists, endocrinologists, orthopaedic surgeons, cardiologists and genetic counselors, to collectively manage lysosomal storage disorders and its effects on different areas of the body.
  • Board-certified metabolic doctors who participate in the latest clinical trials to bring life-saving treatments to kids, as well as cutting-edge research leading to early detection and improved management of lysosomal storage diseases.
  • Specialized program for the treatment of Batten disease.
  • A clinical trial center for Niemann Pick C disease.
  • A single care setting for all diagnostic testing and treatment planning, for the convenience of families. Our specialized metabolics laboratory can provides rapid and accurate test results which can be especially important with a progressing metabolic disorder.
  • A specialized clinic coordinator to educate patients and families about treatment, follow-up on treatment plans and appointments, as well as meet with your family on treatment days to answer questions.
  • The only comprehensive and multidisciplinary program for mucopolysaccharidosis (MPS) in the Western United States. We offer a unique expertise in MPS not seen at most hospitals.
  • Close coordination with your child’s referring pediatrician and local subspecialties.
  • The opportunities for families to participate in clinical trials and scientific research. The CHOC metabolics team is actively involved in research to further our understanding of lysosomal storage disorders and discover the latest treatments.

• Recognition as a NORD Rare Disease Center of Excellence by the National Organization for Rare Disorders, a distinction given to only 31 hospitals in the nation.

Every year, patients travel to CHOC to access care they can’t find anywhere else, including cutting-edge clinical trials. Their willingness to crisscross the globe to participating these studies has placed the hospital on the map as a leading destination for innovative care.

One of these families is the McGregor family of Blackfalds, Alberta, Canada who found CHOC while searching for treatment alternatives for their 11-year-old daughter, Katharina (Katha). Katha has Niemann-Pick disease Type C (NP-C), a rare genetic disease that causes cholesterol to accumulate in the brain, lungs, liver and spleen.

A toddler with a devastating rare condition has a chance for health, thanks to an experimental treatment and the tenacity of Dr. Raymond Wang, a CHOC physician.