Shwachman-Diamond Syndrome

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What is Shwachman-Diamond syndrome?

Shwachman-Diamond syndrome (SDS) is a rare genetic condition that affects a child’s bone marrow, pancreas and bones. Sometimes it involves other parts of the body. The condition is pronounced SHWAK-mun-DY-mund SIN-drome.

Children with SDS can develop bone marrow failure. This means the soft center of bones does not make enough blood cells to stay healthy. If SDS affects your child’s pancreas, they may not get enough nutrients from food. This affects their growth. Many children with SDS also have problems with how their bones develop. The condition also may increase the risk of blood cancer.

  • What causes Shwachman-Diamond syndrome?

    About 90% of the time, SDS is caused by changes (mutations) in a gene called SBDS. The gene directs how the body makes a protein that affects cells throughout the body. Children with the disease inherited 2 of these gene mutations, 1 from each parent.

    The other 10% of people with SDS have a normal SBDS gene and are diagnosed based on their symptoms, lab tests or, very rarely, changes in other genes.

 

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Our team treats children, teens and young adults, including those with the hardest-to-treat cancers and blood disorders. We provide treatment options that many centers do not offer.

 

Symptoms of Shwachman-Diamond Syndrome

SDS can affect many parts of your child’s body.

  • Digestive system and growth

    SDS can affect how the pancreas works. The pancreas makes chemicals (enzymes) that help the body turn food into energy. Children with SDS may not make enough of these enzymes.

    As a result, your child might not digest food well or get enough nutrients. This can cause problems with how your child grows.

    Your child may have:

    • Problems with feeding
    • Poor growth
    • Greasy and foul-smelling diarrhea
    • Low levels of vitamin A, vitamin D, vitamin E and vitamin K
  • Blood and bone marrow

    Children with SDS can develop bone marrow failure. That means the marrow inside the bones does not make enough blood cells. Your child may have low levels of white blood cells, red blood cells and platelets. 

    If their bone marrow does not make blood cells properly, your child may:

    • Have more infections. These may affect their ears, sinuses, skin and lungs. This happens if your child has low levels of a type of white blood cell (neutropenia).
    • Be tired and have low energy. This is caused by not having enough red blood cells (anemia).
    • Have bleeding problems because of low platelet levels.
    • Be more likely to develop blood conditions like aplastic anemia and myelodysplasia.
    • Be at higher risk of developing blood cancers like myelodysplastic syndrome (MDS) and leukemia. MDS is a pre-leukemia condition.
  • Bones

    Many children with SDS have problems with how their bones grow.

    Your child may have:

    • Short height compared to other children
    • Problems with hips and knees
    • Small rib cage and short ribs, which may affect breathing
    • Curve in the spine (scoliosis)
    • Higher risk of breaking bones because of low bone density (osteopenia)

Diagnosing Shwachman-Diamond syndrome

Most often, symptoms of SDS show up by the time a baby is 6 months old. But some people are not diagnosed until they are adults. Different children may have different symptoms. The symptoms may come and go or improve over time. This makes it hard to diagnose SDS.

To diagnose your child, our team will do 1 or more of the following:

  • Ask about the health of your child and family members.
  • Check your child for signs of illness, differences in their bones and other physical signs of SDS.
  • Take a stool sample to see how much fat is in your child's bowel movements. Too much fat is a sign that your child's body is not digesting fat as it should.
  • Draw and test blood. Lab tests on blood may include:
    • Measuring levels of enzymes made by your child's pancreas.
    • A complete blood count. This measures how many red blood cells, white blood cells and platelets your child has.
    • Genetic tests to check for changes linked to SDS and to rule out other conditions.
  • Get a sample of bone marrow. This is called bone marrow aspiration or biopsy. This test helps us understand the reason for your child’s marrow failure.

After the lab results come in, your child's care team will talk with you about the treatment plan.

Treating Shwachman-Diamond Syndrome

Our treatment goals are to:

  • Control or cure your child’s SDS
  • Manage other health problems it causes

Your child’s care plan depends on their illness. We watch your child closely and recommend the right treatments at the right time. At Seattle Children’s we offer these treatment options:

  • Pancreatic enzymes for digestion

    Most children with SDS have trouble getting enough nutrients from their food. This is because their pancreas does not make enough enzymes to help digest food. They often have diarrhea, so stools leave their body before nutrients are absorbed.

    If your child's pancreas does not make enough enzymes, they may take replacement enzymes with meals and snacks. The enzymes help break food down into smaller nutrients that are easier to absorb.

    This treatment is called pancreatic enzyme replacement therapy (PERT).

  • Growth factor therapy

    Children with low levels of blood cells may benefit from medicine that helps their bone marrow make more infection-fighting white blood cells.   

    The medicine is called hematopoietic growth factor, filgrastim or granulocyte-colony stimulating factor (G-CSF). Usually it is given as a shot under the skin.

    There are benefits and risks to this type of medicine. Your child’s doctor will talk with you about whether this treatment is right for your child.

  • Antibiotics to fight infections

    If your child has a fever and a low level of white blood cells (neutropenia), they likely have trouble fighting off infections.

    They may need antibiotics to help fight infections caused by bacteria. Your child may get antibiotics into their vein using an IV (intravenous) line. Some children take them by mouth.

  • Blood transfusions

    Giving your child red blood cells and platelets from a healthy donor can help with anemia and bleeding problems. Your child receives the cells into their vein using an IV line. This is called a blood transfusion. How often children need a transfusion varies.

    Our outpatient infusion unit is staffed by expert nurses and is open every day. This helps your child get care without having to spend a night in the hospital.

  • Stem cell transplant

    For some children with SDS, treatment includes a transplant of blood-forming stem cells from a healthy donor. This is called a stem cell transplant, bone marrow transplant or hematopoietic (him-at-oh-poy-EH-tik) cell transplant.

    This treatment helps your child’s bone marrow make healthy blood cells. With normal levels of healthy infection-fighting white blood cells, a child is no longer at risk for severe infections. A transplant also lowers the risk of leukemia and a pre-leukemia condition called myelodysplastic syndrome. A transplant does not improve the problems SDS can cause to the pancreas or bones.

    Our Non-Malignant Transplant Program specializes in stem cell transplants for children with noncancer conditions, such as marrow failure. Some children with SDS are too sick to withstand the powerful drugs or radiation (called conditioning) that often are used to prepare their bodies for the transplant. Our team has developed better ways to prepare them, called reduced-intensity conditioning. We keep improving the conditioning treatments to increase survival and reduce complications.

    We perform the transplants here at Seattle Children’s, working closely with our partner, Fred Hutchinson Cancer Center. Fred Hutch pioneered this lifesaving procedure and is one of the largest stem cell transplant centers in the world.

  • Treatments for bone problems

    Some types of problems with a child's skeleton are treated with surgery on their bones (orthopedic surgery).

    Some children need supplements or hormones to help make their bones stronger to reduce breaks. A blood test will show if your child needs vitamin D or calcium.

    We also check that your child’s thyroid and parathyroid glands are working at the right level. The parathyroid glands control the level of calcium in the body. The thyroid controls how the body breaks down food and uses the energy.

  • Long-term monitoring

    Children with SDS need regular check-ups with a doctor who specializes in marrow failure syndromes. Checking blood counts and bone marrow regularly can help find problems early. That gives your child the best chance of successful treatment.

    We check your child carefully for worsening marrow failure or signs of blood cancer.

Shwachman-Diamond Syndrome at Seattle Children’s

Children with SDS can have healthy, active lives. For the best outcome, your child needs a team experienced in treating children with marrow failure conditions and other health problems that may arise. Our Bone Marrow Failure Program brings together many different types of healthcare providers to care for your child.

Our experts have lots of experience caring for children and teens with inherited bone marrow failure syndromes like SDS. Our experience helps us know what to watch for and how to prevent and treat problems early. This increases the chances of successful treatment and helps your child feel better.

The Bone Marrow Failure Program is part of our Cancer and Blood Disorders Center. If you would like an appointment, ask your child’s primary care provider to refer you. If you have a referral or would like a second opinion, contact the center at 206-987-2106.

Providers, see how to refer a patient.

  • The experts you need for complete care

    Our physician-scientists are nationally known for treating children with marrow failure. They help set national standards for care of young people with blood disorders.

    We form a multidisciplinary team to diagnose and treat your child. Based on their needs, your child will be treated by top experts in:

    We care for your whole child. We don’t just treat their disease. Your family has a full team behind you, with specialists in nutrition, pain management, social work, physical therapy, psychology, genetic counseling and emotional health. Read more about the supportive care we offer.

  • Advanced therapies, including stem cell transplants

    We offer a full range of services for children with SDS. Your child may need medicines, blood transfusions or a stem cell transplant.

    For some children, a transplant of young blood-forming stem cells from a healthy donor may cure bone marrow failure. Our Non-Malignant Transplant Program specializes in stem cell transplants for children with noncancer conditions. The team is very experienced in preparing children for transplant and helping them recover.

    For details on the number of stem cell transplants we do each year and survival rates for children who receive them, see our statistics and outcomes.

    We work closely with our partner Fred Hutchinson Cancer Center to perform the transplants. Fred Hutch pioneered stem cell transplants and is one of the largest stem cell transplant centers in the world.

  • Among the nation’s best children’s hospitals

    Our specialty is treating children’s conditions while helping them grow up to be healthy and productive.

    Children do not react to illness, pain and medicine in the same way as adults. They need – and deserve – care designed just for them.

    The doctors who will guide your child’s care are board certified in pediatric hematology. This means they are approved to give the special care your child needs and they constantly expand their knowledge about blood disorders. We plan your child’s treatment based on years of experience plus the newest research on what works best – and most safely – for children.

  • Support for your whole family

    Having a child with SDS can be stressful for the whole family. We help take positive steps right away by offering appointments within 1 to 3 days to new patients with urgent needs. If needs are not urgent, new patients can be seen in 1 or 2 weeks.

    During visits, we take time to explain your child’s condition. We help you fully understand your treatment options and make the choices that are right for your family.

    Our child life specialists and social workers help your child and your family through the challenges of this condition. They can connect you to community resources and support groups.

    At Seattle Children's, we work with many children and families from around the Northwest and beyond. Whether you live nearby or far away, we can help with financial counseling, schooling, housing, transportation, interpreter services and spiritual care. Read about our services for patients and families.

  • National leaders in research to improve care and outcomes

    We work with national and international research groups to improve care and find cures for blood disorders. These include the Shwachman Diamond Syndrome Registry and the North American Pediatric Aplastic Anemia Consortium (NAPAAC). Both support research to improve the care of patients and families with bone marrow failure, including SDS.

    With our research partners, we work to:

    • Understand the causes of SDS
    • Develop better treatments
    • Reduce complications and side effects for children who need stem cell transplants

Contact Us 

If you would like an appointment, ask your child’s primary care provider to refer you.

If you have a referral or would like a second opinion, contact the Cancer and Blood Disorders Center at 206-987-2106 or by email.

Providers, see how to refer a patient.

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