Hunter Syndrome: Diagnosis and Treatment

What are the treatments for Hunter syndrome?

While there is no cure for Hunter syndrome, there are 2 types of treatment to help improve your child’s symptoms and quality of life and lengthen their lifespan:

• Hematopoietic stem cell transplantation (HSCT) is when blood stem cells (a type of cell that helps the body create red and white blood cells and platelets, or cells that helps repair and build red blood cells) from the bone marrow (spongy inner part of the bones) are taken from one person and given through an IV to the child with Hunter syndrome. Before starting HSCT, your child may need chemotherapy to prepare their immune system (system in the body that fights disease and illness) for the transplant. The type of chemotherapy given before HSCT is not a type of cancer treatment.
• Enzyme replacement therapy can give the body the enzymes it cannot make on its own. An infusion of the enzyme is introduced back into the body through an IV. This can improve many symptoms of Hunter syndrome. Enzyme replacement therapy is given weekly and continued for the rest of your child’s life. Infusions start at the hospital, but then can usually be completed at home.

Who is on my child’s care team?

There are many members of your child’s care team, based on their needs and symptoms:

Genetics

• Amel Karaa, MD, director of the Lysosomal Disorders Program
• Lauren O’Grady, MS, CGC, genetic counselor

Cardiology

• Ana Maria Rosales, MD, attending physician
• Manuella Lahoud-Rahme, MD, attending physician

Orthopaedics

• Brian Grottkau, MD, chief of Pediatric Orthopaedics and pediatric orthopaedic surgeon

Neurology

• Amanda Nagy, MD, attending physician

Pulmonary

• Bernard Kinane, MD, chief of Pediatric Pulmonary Medicine and attending physician

Ophthalmology

• Your child will be seen by providers at the Massachusetts Eye and Ear Infirmary

ENT

• Christopher Hartnick, MD, chief of Pediatric Otolaryngology (ENT) at MGfC and Mass Eye and Ear and attending physician

As your child grows up, the pediatric care team can help with the transition to adult care. Adult providers are chosen based on your child’s specific needs.

Rev. 6/2022. Mass General for Children and Massachusetts General Hospital do not endorse any of the brands listed on this handout. This handout is intended to provide health information so you can be better informed. It is not a substitute for medical advice and should not be used to treat any medical conditions.