What is Shwachman diamond syndrome?

Shwachman diamond syndrome is a rare, multi-system disorder involving many parts of the body. Affected individuals have impaired pancreatic function, poor growth and haematological problems. infections occur frequently and characteristics bone abnormalities can be seen on X rays. there are a wide variety of additional complications in some patients with sds. the severity of symptoms can therefore differ significantly from patient to patient, even amongst members of the same family.

why  do children suffer from Shwachman diamond syndrome?

SDS is a genetic condition inherited in an autosomal recessive way or can occur sporadically. Although it is not known how many people have the syndrome, it is estimated that about 1 in 50,000 newborns are affected. The gene affected is found on chromosome 7 and called SBDS gene.

what does it mean to be a shwachman-diamond family?

For a child it means not being nourished by the food you eat and taking as many as 30 pills a day to aid digestion. it means watching normal children grow up while you stay small and fight a wide range of infections, some of which may be fatal. it means countless hospital visits and examinations by numerous medical specialists. it means...PAIN.

For a parent it means, commonly, experiencing lengthy and stressful delays before receiving an accurate diagnosis. it means your child will require a huge additional time commitment in order for them to be guided towards a full life. it means facing the fact that your child has a very rare disorder for which there is no cure.

Being a parent is one of the greatest challenges in life. Being the parent of a child with sds creates an even greater challenge. nothing can be more painful than watching your child suffer whilst feeling powerless to help. Fear and uncertainty for the future is never far away as you watch them face yet another medical challenge or difficulty in their life.