Symptoms of Shwachman-Diamond Syndrome
Shwachman-Diamond syndrome can affect many parts of your child's body. Because children with Shwachman-Diamond syndrome often cannot digest food well, they may have:
- Problems with feeding
- Slow growth
- Greasy and foul-smelling diarrhea
- Low levels of vitamin A, vitamin D, vitamin E and vitamin K
Because their bone marrow isn't producing blood cells properly, they may be:
- Likely to have a lot of infections, like ear, sinus and skin infections and pneumonia
- More likely than other children to develop disorders that affect the blood, like aplastic anemia and myelodysplasia
- More likely to develop cancers, including leukemia and acute myeloid leukemia
Children with the disease may also have problems with their skeletons, including:
- Short in stature compared to other children (they are not as tall)
- Problems with hips and knees
- Short ribs
- Curve in the spine (scoliosis)
- Low bone density (osteopenia), which may cause bones to break more easily
Shwachman-Diamond Syndrome Diagnosis
Shwachman-Diamond syndrome can be hard for doctors to diagnose because symptoms vary among different people. The symptoms may come and go, or even improve over time. Most of the time, our team will start by:
- Taking a detailed health history
- Checking your child for signs of illness
Next, we may ask your child to have one or more tests. We may:
- Take a blood sample to measure levels of enzymes produced by your child's pancreas.
- Take a stool sample to see how much fat is in your child's bowel movements. This is a sign that your child's body is not digesting fat as it should.
- Take a sample, usually of blood or spit (saliva), and test it for changes (mutations) in the SBDS gene (genetic testing). About 9 in 10 people who have been diagnosed with SDS have changes in this gene.
- Do blood tests to check the level of each kind of blood cell. We look at the blood cells under a microscope and use what we see to help find out the cause of the problem.
- Remove a sample of bone marrow (bone marrow aspiration or biopsy) to find out if there are any problems with the marrow.