What is adrenoleukodystrophy (ALD)?
ALD is a disease you’re born with that affects metabolism. ALD is sometimes called a storage disease. Metabolism is how the body breaks down food into energy. In ALD, the body is missing an important protein (enzyme) to break down fat-based substances. When the fat-based substances aren’t broken down, they build up and cause damage. In ALD, the brain, spinal cord and nervous system are damaged. This causes problems with the ability to speak, hear, learn, and move. ALD only affects boys.
The 2 more common types of ALD are:
- Childhood cerebral form – This is the severe type of ALD. It mostly affects boys between 5 and 8 years old. It may cause behavior changes, muscle cramps, difficulty walking, swallowing, hearing loss, seizures and other symptoms.
Adrenomyelopathy (AMN) – This type is less severe. Problems usually start between ages 21 and 35. People with this type of ALD may have stiffness and weakness that gets worse and changes their ability to walk.
How does blood or marrow transplant (BMT) work for ALD?
BMT, also known as a bone marrow transplant or blood stem cell transplant, can stop the ALD 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 is able to break down fat-based substances normally. This keeps the brain, spinal cord and nervous system from more damage. But, it can’t fix any damage that has already happened.
Allogeneic transplant is used for ALD. This type of transplant uses healthy, blood-forming cells donated by someone else to replace the unhealthy blood-forming cells. These healthy cells can come from a family member, unrelated donor or umbilical cord blood. First, you get chemotherapy (chemo), with or without radiation, to kill the unhealthy cells. Then, the healthy, donated cells are given to you through an intravenous (IV) catheter. The new cells travel to the inside of the bones and begin to make healthy 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 care for you to prevent and treat any complications.
When should I see a transplant doctor?
Most people have a better chance of a cure if they have a transplant soon after diagnosis. You or your child should see a transplant doctor as soon as you’re diagnosed
Your first appointment with a transplant doctor
At the first appointment, the transplant doctor will:
- Review your or your child’s medical history
- Talk with you about treatment options
- Discuss the risks and benefits of transplant
- Recommend the best time for you or your child to get a transplant and prepare for treatment
- Start a donor search
- Schedule appointments with other doctors, like a neurologist
Questions to ask your doctor
Ask questions so you understand your treatment options and can make decisions that are best for you and your child. Questions you may want to ask include:
- What are the chances transplant will stop the ALD from causing more damage?
- What are the possible side effects of transplant? How can they be reduced?
- How might my or my child’s quality of life change over time, with or without transplant?
Most recent medical review completed March 2017.