Giuliana was genetically diagnosed with Shwachman-Diamond Syndrome (SDS) prior to her birth. SDS is a genetically inherited condition that primarily affects bone marrow, the pancreas, and the skeletal system. In Giuliana's case, she has had to overcome issues related to her body's ability to produce a pancreatic enzyme needed to absorb nutrients and problems producing new blood cells. Because of t
his, she is on an enzyme prior to each feed, which consists of a high-calorie formula and added MCT oil for additional calories. She has also had several blood and platelet transfusions to compensate for her body's inability to produce them. Giuliana will need a bone marrow biopsy in the near future and may very well require a bone marrow transplant during her life. The main hurdle Giuliana is currently facing, however, relates to the skeletal aspect of this disease. She has a restricted ribcage characterized by short, flared ribs. Because of this, she is unable to fully expand her lungs and expel carbon dioxide. At the beginning of January, it became clear that the only way to bring Giuliana home safely was with a tracheostomy. She got her tracheostomy on January 22nd and we are counting down the days before she gets to join her big sister at home!
