Shwachman-Diamond Syndrome

What is Shwachman-Diamond syndrome?

Shwachman-Diamond syndrome (SDS) is a rare genetic condition that affects a child’s bone marrowpancreas 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. In addition, the condition may increase the risk of blood cancer.

Children with this condition can have healthy, active lives. But they need care from a blood specialist (hematologist) with experience in marrow failure conditions. They also need a team that can treat the health problems SDS may cause. Our Bone Marrow Failure Program brings together many different types of healthcare providers to care for your child.

  • About 90% of the time, SDS is caused by changes (mutations) in a gene called SBDS. The gene holds instructions for making a protein that affects cells throughout the body. Children with the disease inherited 2 of these gene mutations, 1 from each parent. This is called a recessive condition.

    The other 10% of people with SDS have a normal SBDS gene and are diagnosed based on their symptoms and lab tests.

    Babies with SDS usually have symptoms by the time they are 6 months old. But some people are not diagnosed until they are adults.

Shwachman-Diamond Syndrome at Seattle Children’s

Experts in our Bone Marrow Failure Program have lots of experiencing caring for children and teens with 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. Please contact the center at 206-987-2106 for more information, a second opinion or to make an appointment.

  • Our physician-scientists are nationally known for treating children with blood disorders and marrow failure.

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

    Your child will get treatment as needed from expert doctors who diagnose and treat problems related to: 

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

  • For some children, a stem cell transplant, using young blood-forming 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, including SDS. Our transplant team is very experienced preparing children with marrow failure 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 statistics and outcomes.

    We work closely with Fred Hutch, our partner in the Seattle Cancer Care Alliance, to perform the transplants. More than 30 years ago, Fred Hutch pioneered stem cell transplants to treat blood disorders.

    Access to clinical trials

    Our patients have access to promising new therapies offered only in research studies, called clinical trials. Examples include: 

    • A new conditioning treatment using 2 chemotherapy drugs to get the body ready to accept stem cells. Dr. Lauri Burroughs leads the study. Read how results so far show much better survival.
    • New ways to prepare children for transplant if they do not have a fully matched donor. Drs. Lauri Burroughs and Ann Woolfrey lead these studies.
    • Approaches that help children avoid graft-versus-host disease (GVHD) after transplant. Dr. Marie Bleakley work on ways to control T cells from donors so they don’t attack the cells of transplant patients.
  • Our specialty is treating children’s conditions while helping them grow up to be healthy and productive.

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

    Our doctors have special training in how to diagnose and care for children with blood conditions. The doctors who 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.

    Our experts base their treatment plans on years of experience and the newest research on what works best – and most safely – for children.

  • A diagnosis of SDS can be stressful. 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. We 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.

  • In 2019, U.S. News & World Report ranked Seattle Children’s among the country’s 10 best pediatric hospitals. Our Heart Center is the top-ranked cardiology and cardiac surgery program in the Northwest and among the best in the nation.

    Our physician-scientists help set national standards for care of young people with blood disorders.

    Seattle Children’s provides the most advanced treatments in our region. Our experience helps us recommend the right treatment at the right time. We work together – and with you – to have the best results for your child and your family.

  • We belong to national and international research groups that work to improve care and find cures for blood disorders. One such group is the North American Pediatric Aplastic Anemia Consortium (NAPAAC). It supports patients and families with bone marrow failure.

    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 

    Learn more about blood disorder research at Seattle Children’s.

Symptoms of Shwachman-Diamond Syndrome

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

  • 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
  • Children with SDS can develop bone marrow failure. That means the marrow inside the bones doesn’t make enough blood cells. In a healthy child, the bone marrow makes blood cells the body needs. These include white blood cells, red blood cells and platelets.

    If their bone marrow doesn’t 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 problems making a type of white blood cell called a neutrophil (NOO-truh-fill).
    • Be tired and have low energy. This is caused by not having enough red blood cells (anemia). Red blood cells carry oxygen to all the organs and tissues.
    • Have bleeding problems because of low platelet levels. Platelets help blood clot and stop bleeding.
    • 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 preleukemia condition.
  • 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. This can cause serious problems with breathing.
    • Curve in the spine (scoliosis).
    • Higher risk of breaking bones because of low bone density (osteopenia).

Diagnosing Shwachman-Diamond Syndrome

SDS can be hard for doctors to diagnose. Different children may have different symptoms. The symptoms may come and go or improve over time.

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 helps us understand the reason for your child’s marrow failure.
    • Your child will get medicine to make them sleep so they do not feel pain (anesthesia) during the procedure.
    • Your child’s doctor will place a hollow needle into the hip bone and suck out (aspirate) a small sample of liquid bone marrow.
    • Then the doctor pushes a larger needle into the bone to remove a small amount of bone containing marrow. 

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:

  • 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).

  • 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 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.

  • 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.

  • 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 has weekend hours. This helps your child get care without having to spend a night in the hospital.

  • For some children with SDS, treatment includes a transplant of blood-forming stem cells from a healthy donor (stem cell transplant). It is also called a bone marrow transplant or hematopoietic cell transplant. Hematopoietic (him-at-oh-poy-EH-tik) stem cells are immature cells that grow into blood cells.

    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 preleukemia condition called myelodysplastic syndrome. A transplant does not improve problems SDS can cause to the pancreas or bones.

    Our Non-Malignant Transplant Program specializes in stem cell transplants for children with noncancer conditions, including marrow failure. Some children with SDS are too sick to tolerate the powerful drugs or radiation (called conditioning) that is usually used to prepare their bodies for the transplant. Our team – led by Dr. Lauri Burroughs – has developed better ways to prepare them, called reduced-intensity conditioning. We continue to fine-tune conditioning treatments to improve survival and reduce complications.

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

  • 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.

  • 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. Children with SDS are at higher risk for myelodysplastic syndrome and leukemia

Contact Us 

If you would like an appointment, ask your child’s primary care provider for a referral.

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

Providers, see how to refer a patient.