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We are a Catholic homeschooling family with three boys.  Two of our children have Shwachman-Diamond Syndrome and secondary Mitochondrial Disease which has prompted us to be active in raising awareness of these diseases.  Along with raising money for research and education of Shwachman-Diamond Syndrome, we are active in helping Shwachman-Diamond America with every aspect of its mission. We have also written articles and books on topics relating to Shwachman-Diamond Syndrome and coping with chronic illness. It is our hope that through sharing our experiences of living with Shwachman-Diamond Syndrome and Mitochondrial Disease, we can help other families. Our children have many medical problems,  so we also support the United Mitochondrial Disease Foundation, Immune Deficiency Foundation and the Pull-Thru Network.


What is Shwachman-Diamond Syndrome?

Shwachman-Diamond Syndrome, first described in 1964, is a rare, genetic, multi-systemic disorder affecting the pancreas, bone marrow, and skeleton. The most common symptoms are pancreatic dysfunction (malabsorption), low neutrophil count and short stature. Other organs may also be involved in some Shwachman-Diamond Syndrome patients. Shwachman-Diamond Syndrome affects people differently and not all people with Shwachman-Diamond Syndrome have all of these symptoms. In Infancy, the first symptoms are loose, foul smelling, greasy stools and failure to gain weight and grow normally.

The pancreas fails to produce the enzymes essential to digest food properly. Because of the exocrine pancreatic dysfunction (malabsorption), the child does not absorb enough nutrients, most commonly the fat-soluble vitamins, to grow and develop normally. Oral enzyme replacement therapy helps these children to digest their food, but many still need to take special vitamin supplements. Improving nutritional status  does not necessarily improve the growth of children with Shwachman-Diamond Syndrome.

The bone marrow, where blood cells are produced, is also affected in Shwachman-Diamond Syndrome. White blood cells, which fight infection, are most commonly affected. Neutropenia is the most common hematological abnormality in Shwachman-Diamond Syndrome, though all blood cell lines may be affected. Anemia and blood clotting problems are also common in Shwachman-Diamond Syndrome patients. Because of the bone marrow dysfunction, these children are at a greater risk of developing life-threatening infections. Shwachman-Diamond Syndrome is considered to be a bone marrow failure syndrome, because up to 30% of these children will develop leukemia or aplastic anemia.

Sean and Joseph with their dad.

Sean and Joseph were born with a rare, genetic bone marrow failure syndrome called Shwachman-Diamond Syndrome. Matthew is healthy, but his life is affected by his brothers having this disease. We've had quite a journey together!  Our mom got together with other parents of Shwachman Diamond Syndrome children and a special Shwachman-Diamond Syndrome adult and together they founded Shwachman-Diamond America (SDA) to help raise money for Shwachman-Diamond Syndrome education and research.

Help raise Shwachman-Diamond Syndrome awareness.  Join Shwachman-Diamond America Cause on Facebook!

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Helpful links:

Shwachman-Diamond America

Shwachman-Diamond Information Site 

If you would like to read about Joseph's Donor Drive, please visit:

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