Shwachman Diamond Syndrome (SDS) is a rare genetic disease

Most common symptoms include

  • Poor digestion caused by pancreatic insufficiency (SDS is the 2nd most common cause of this after cystic fibrosis) which leads to excessive and fatty stools

  • Failure to thrive / poor stature

  • Reduced levels of fat soluble vitamins

  • Skeletal abnormalities

  • Haematological abnormalities and reduced immune system

  • A minority of cases go on to develop blood cancer such as myelodysplastic syndrome (MDS) and acute myeloid leukaemia (AML)

  • Dental problems

  • Developmental delay with potential psychological and social problems

There are approximately 60 known patients in the UK and we estimate there are 1,500-2,000 patients in US and Europe