What is SDS or
Shwachman-Diamond Syndrome
SDS is a genetic disorder.
It affects many parts of the body.
You can't catch it from someone who has it. It is due to typos in the DNA, inherited from the parents.
SDS affects each person differently, with changes over time. There are some frequently observed symptoms:
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Digestive system problems and exocrine pancreatic insufficiency ➜ pain, malnutrition, slowed growth, failure to thrive, feeding issues, elevated liver enzymes
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Immune system problems and neutropenia ➜ frequent or serious infections, urgent hospital visits
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Problems with the bones and skeletal system ➜ hip/knee pain and possible restricted breathing, small stature
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Brain and cognitive issues ➜ learning and behavioral challenges at home and school
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Problems with the blood-forming system (bone marrow) ➜ bone marrow failure, low blood counts, and high risk of developing blood cancer/leukemia (e.g. MDS/AML) ➜ need for monitoring with frequent blood draws, bone marrow biopsies; some (but not all) will need a stem cell transplant.
The blood-related issues are of particular concern and can be life-threatening. About 1 in 3 SDS patients develop leukemia (AML) by age 30, with a very poor prognosis. The prevention of this complication is our focus.
In SDS, a typo in the DNA prevents the creation of enough ribosomes in the cells.
With not enough ribosomes, the cells in the body cannot make enough protein - one of the major building blocks of life. Ribosomes are huge protein complexes themselves that make all proteins in our cells by assembling amino acid chains, like hands building towers of Lego blocks. If we don’t have enough ribosomes, our cells struggle to make all the proteins - including enzymes - we need to live and thrive. No wonder that so many organ systems are affected.