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What is Hurler syndrome?

Hurler syndrome is a disease you’re born with that affects metabolism. Metabolism is how the body breaks down food into energy. In Hurler syndrome, the body is missing an important protein (enzyme) to break down a sugary substance in the body. When the sugary substance isn’t broken down, it builds up and causes problems. It can damage the brain, heart and other organs.

Sometimes parents and doctors may see signs of the disease at birth. Other times, children will start showing signs when they’re between 2 and 8 years old. Children with the disease have slower than normal growth and problems hearing, learning, and moving.

How does blood or marrow transplant (BMT) work for Hurler syndrome?

BMT, also known as a bone marrow transplant or blood stem cell transplant, can stop the disease from causing more damage. It replaces the blood-forming cells (stem cells) that are missing the important protein with healthy ones. With healthy blood-forming cells, the body will break down the sugary substance that was building up. This keeps the organs from more damage. But, it can’t fix any damage that has already happened.

Allogeneic transplant is used for Hurler syndrome. This type of transplant uses healthy blood-forming cells donated by someone else to replace the unhealthy ones. These healthy cells can come from a family member, unrelated donor or umbilical cord blood. First, the child gets chemotherapy (chemo), with or without radiation, to kill the unhealthy cells. Then, the healthy donated cells are given to your child through an intravenous (IV) catheter. The new cells travel to the inside of the bones and begin to make healthy blood cells.

The entire transplant process, from the start of chemo or radiation, until hospital discharge, can last weeks to months. This is followed by many months of recovery near the transplant center and at home. The transplant team will closely watch your child to prevent and treat any complications.

When should my child see a transplant doctor?

Most children have a better chance of a cure if they have a transplant soon after diagnosis. Your child should see a transplant doctor as soon as your child is diagnosed.

Your child’s first appointment with a transplant doctor

At the first appointment, the transplant doctor will:

  • Review your child’s medical history
  • Talk with you about your child’s treatment options
  • Discuss the risks and benefits of transplant
  • Recommend the best time for your child to get a transplant and prepare for treatment
  • Start a donor search

Questions to ask your doctor

Ask questions so you understand your treatment options and can make decisions that are best for your child. Questions you may want to ask include:

  • What are the chances transplant will stop the Hurler syndrome from causing more damage?
  • What are the possible side effects of transplant? How can they be reduced?
  • How might my child’s quality of life change over time, with or without transplant?

Most recent medical review completed March 2017.