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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.

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.


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CONTACT US

MAIL : The co-ordinator, SDSA
9 Jim Rd, Newham, Victoria 3442
PHONE : (03) 5427 0645
EMAIL : Joan Buchanan Melbourne Victoria  buchanan.joan@gmail.com
WEB : www.shwachmandiamondsyndrome.com.au