Doctors often have two goals in treating Shwachman-Diamond syndrome:
- Helping to manage the health problems that the disease causes. It is very important to have a healthcare team to monitor your child with SDS and to provide supportive care. They can make your child feel better, and they can also help doctors find problems early when the chances of successful treatment are best. Regular testing, like blood counts and bone marrow evaluations, can help your child get the best care.
- Curing bone marrow failure caused by SDS. So far, the only cure for bone marrow failure is hematopoietic cell transplantation. These transplants are sometimes used to treat leukemia. While transplants can cure bone marrow failure, they don't cure some other problems caused by Shwachman-Diamond syndrome, like problems with the pancreas or skeleton.
Shwachman-Diamond Syndrome Treatment Options
Depending on the kinds of problems Shwachman-Diamond syndrome causes, your child may need several kinds of treatment. These treatments don't cure the disease. But they can help manage problems.
- Pancreatic Enzyme Replacement Therapy (PERT) replaces some of the enzymes the pancreas usually makes. If your child's pancreas does not make enough of the enzymes that help with digestion, your child may take replacement enzymes with meals and snacks.
- Growth factors can boost the number of white blood cells the marrow makes. These medicines may be given as a shot under the skin.
- Antibiotics are medicines that kill bacteria. If your child has a low level of white blood cells, they may take antibiotics to help fight infections caused by bacteria. Your child may get the antibiotics through a blood vein with an IV (intravenous) line.
- Transfusions of red blood cells and platelets can help with anemia and bleeding problems. Transfusing blood is the process of giving whole blood or only red blood cells from a donor to a patient using an IV line.
- Surgery for bone problems (orthopedic surgery) can help treat specific problems with your child's skeleton.
- Medical therapies for problems with the bones can help prevent low bone density. These include screening for vitamin D deficiency, hypothyroidism, calcium deficiency and hypoparathyroidism.
Hematopoietic Cell Transplant, or Stem Cell Transplant
A hematopoietic cell transplant (also called a bone marrow transplant or stem cell transplant) may cure bone marrow failure. This treatment works best in children and young adults with a sibling who is a match and can donate bone marrow for the transplant.
We work closely with our transplant colleagues at the Fred Hutchinson Cancer Research Center to provide care for children who need a bone marrow or stem cell transplant. We do transplants at the Seattle Children’s Hospital main location.
Children with Shwachman-Diamond syndrome are very sensitive to the side effects of treatments that people must go through before getting a stem cell transplant. To help with this, our team uses special transplant treatments (called reduced-intensity conditioning regimens). We have developed these treatments especially for children with Shwachman-Diamond syndrome. In addition, our team has a lot of experience in using transplants to help young patients with Shwachman-Diamond syndrome.
Learn more about pediatric bone marrow and stem cell transplants that are offered through the Pediatric Blood and Marrow Transplant Program.