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Shwachman-Diamond Syndrome (SDS)
SDS was first identified in 1964 and is a rare genetic disease which affects
many organs in the body-- primary among them
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The bone marrow : which produces blood cells
that fight infection, carries oxygen to the body organs and controls
bleeding, The fact that the bone marrow in patients with SDS does not
produce sufficient cells can leave the patient susceptible to infections,
which can be life threatening and also a risk for leukaemia and bone marrow
failure. |
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The pancreas : which is responsible for
helping the body digest food. This can result in patients with SDS being
malnourished and having vitamin deficiencies. |
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The skeleton : which results in short stature
and other bone abnormalities
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A variety of features related to these and
other affected organs can manifest in different ways. Sexes are equally
affected.
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Diagnosis is often difficult and can take a
long time leaving families feeling helpless and anxious.
Shwachman-Diamond Syndrome is inherited
through an
affected gene from each parent ( an autosomal recessive gene.)
Future pregnancy can result in a 1 in 4
chance of having another child born with SDS. Medical researchers believe
SDS affects 1 in every 50,000 births.
Please take time to review this information carefully. |