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How is Shwachman-Diamond syndrome treated?

Doctors often have two goals in treating Shwachman-Diamond syndrome:

  • Help manage the multiple 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 can 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.
  • Cure blood problems caused by SDS. So far, the only cure for bone marrow failure is hematopoietic cell transplantation (also called a bone marrow transplant or stem cell transplant). 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. Some of these treatments don’t cure the disease, but they can help manage problems.

Medicines

Pancreatic enzymes for digestion

Most children with SDS have slow-working pancreases coupled with diarrhea, which causes malabsorption of nutrients. 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. The enzymes help break food down into smaller, more absorbable nutrients.

Growth factor therapy to help with growth

Children with low blood counts may benefit from treatment with hematopoietic growth factors. Filgrastim, or G-CSF, helps your child’s bone marrow produce more white blood cells. These medicines may be given as a shot under the skin. There are benefits and risks with these medications, and they are only started after discussion with your child’s marrow failure specialist.

Antibiotics to fight infections

If your child has a fever and neutropenia (a low level of neutrophils), they likely have trouble fighting off infections. Antibiotics may be needed to help fight infections caused by bacteria. Depending on the situation, your child may receive the antibiotics through a blood vein with an IV (intravenous) line or take antibiotics by mouth.

Blood transfusions 

Transfusions of red blood cells and platelets can help with anemia and bleeding problems. Transfusing blood is the process of giving blood cells from a donor to a patient using an IV line.

Orthopedic treatments

  • 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 and make bones stronger to reduce breaks. These include screening for vitamin D deficiency, hypothyroidism, calcium deficiency and hypoparathyroidism.

Bone marrow transplant

A hematopoietic cell transplant (also called a bone marrow transplant or stem cell transplant) is the only cure for SDS; it is the treatment of choice for MDS and leukemia. Hematopoietic cells are blood-forming cells inside the bone marrow. They are a type of stem cell or immature cell. These immature blood-forming cells are taken from a donor’s bone and infused into your child’s vein, with the potential for curing the marrow failure.

Hematopoietic stem cell transplantation is a complicated procedure that is best performed at a center skilled in treating patients with Diamond-Blackfan anemia (DBA). We work closely with the Fred Hutchinson Cancer Research Center to provide care for children who need a bone marrow or stem cell transplant. The Fred Hutchinson Center is a leader in the field of transplantation, pioneering the first successful bone marrow transplant in 1980. Each year, we perform 50 to 60 transplants for children with malignant and nonmalignant diseases, including SDS. 

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 side effects, our team uses special transplant treatments (called reduced-intensity conditioning regimens) that result in reduced toxicity and side effects. We have developed these treatments especially for children with Shwachman-Diamond syndrome. Learn more about the Pediatric Blood and Marrow Transplant Program.

Regular visits to a blood specialist

Children with SDS require long-term follow-up with a hematologist who specializes in marrow failure syndromes. Our Marrow Failure and MDS Program provides care with regular tests and examinations that are necessary to monitor for the life-threatening complications associated with SDS, including worsening marrow failure, myelodysplastic syndrome or leukemia.

Support can be found through the SDS Foundation. The SDS Foundation is a national, nonprofit, patient advocacy group. The SDS Foundation advocates and supports research toward a cure, improves medical management of symptoms, gives educational information and connects families for emotional support.

What care does Seattle Children’s offer for children with SDS?

Shwachman-Diamond affects many areas of the body, requiring the expertise of multiple specialists who are familiar with the unique challenges of this diagnosis. At Seattle Children’s, our team includes you and your family, as well as top experts in bone marrow disorders, cancer, immunology, bone marrow transplant, endocrinology, gastroenterology, orthopedics and other medical specialties.

Our team will discuss treatment options as needed. Not every child will need these treatments. Depending on blood count, some children may not require any treatment. Instead, your provider might recommend waiting and watching your child’s counts closely.

Our hematology nurse and non-malignant transplant coordinator can assist with answering any questions, coordination and follow-up care. Please call 206-987-2106.

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