What does SDS stand for?
Shwachman Diamond Syndrome.
What is Shwachman Diamond Syndrome?
"Shwachman-Diamond syndrome (SDS) is a relatively rare genetic disorder that occurs in approximately one in 50,000 births. SDS affects many organs in the body. Primary features of SDS include a defect in the pancreas that leads to difficulties in digesting food, hematologic (blood) problems with inadequate production of some types of white blood cells, skeletal abnormalities, and short stature. The hematologic problems make people with SDS prone to severe, sometimes fatal infections, and some die from blood complications such as leukemia or bone marrow failure." (The Hospital for Sick Children, 2002)
Is there a cure for people that have Shwachman Diamond Syndrome?
No, but there is treatment. To treat pancreatic insufficiency, patients take pancreatic enzymes before every meal in order for their pancreas to absorb the nutrients. To treat hematological problems (neutropenia), patients can take injections of Filgrastim (Neupogen) in order to increase the amount of white blood cells. It is also recommended that SDS patients undergo a bone marrow biopsy at least once a year in order to monitor the bone marrow and possibly detect any cell changes that could lead to leukemia. A complete guide for treatment and diagnosis of Shwachman Diamond Syndrome can be found here.
What are some websites that can provide more information about SDS?
