Neslican Tay is a Turkish child who has been diagnosed with a rare medical condition known as Shwachman-Diamond Syndrome. Shwachman-Diamond Syndrome (SDS) is an inherited disorder that affects the bone marrow, the pancreas, and other organs. Common symptoms of SDS include failure to thrive, frequent infections, poor growth, and bone abnormalities. In more severe cases, the disorder can cause a type of cancer known as myelodysplastic syndrome (MDS).
Symptoms of Shwachman-Diamond Syndrome
The most common symptoms of Shwachman-Diamond Syndrome are failure to thrive, frequent infections, poor growth, and bone abnormalities. Patients with SDS often experience recurrent respiratory infections, such as bronchitis and pneumonia, as well as gastrointestinal issues. Other common symptoms include skeletal deformities, particularly in the arms and legs, and anemia.
Diagnosis of Shwachman-Diamond Syndrome
The diagnosis of SDS is based on a combination of clinical symptoms, family history, physical examination, and laboratory tests. A blood test is typically used to determine if a patient has the genetic mutation associated with SDS. A bone marrow biopsy may also be performed to diagnose the disorder.
Treatment of Shwachman-Diamond Syndrome
Treatment for SDS is focused on relieving the symptoms of the disorder and preventing complications. Medications, such as antibiotics and antiviral drugs, may be prescribed to reduce the risk of infection. Physical therapy may be used to help with any bone deformities. Bone marrow transplants are sometimes used to treat the more severe forms of SDS.
