Here are a list of terms that you might run in to on this site or surrounding Michael’s health that might be helpful (and it is helpful to me to keep them in one place as I find them out!). I’ll add more as they come up.  Unless otherwise noted, the definitions are from WebMD:

  • Jeune’s Syndrome (Asphyxiating Thoracic Dystrophy): Jeune’s Syndrome, aka Jeune’s Asphyxiating Thoracic Dystrophy (ATD), is an autosomal recessive form of dwarfism. It is characterized by many bone abnormalities, the most pronounced being a long, narrow thorax with a reduced thoracic (rib) capacity causing the lungs to not have enough room to expand and grow. Renal (kidney) and hepatic (liver) dysfunction are present in some cases.
  • Neutropenia: Severe chronic neutropenia (SCN) is a rare blood disorder characterized by abnormally low levels of certain white blood cells (neutrophils) in the body (neutropenia). Neutrophils play an essential role in fighting bacterial infections by surrounding and destroying invading bacteria (phagocytosis).
  • Osteopenia: Osteopenia refers to bone mineral density (BMD) that is lower than normal peak BMD but not low enough to be classified as osteoporosis. Bone mineral density is a measurement of the level of minerals in the bones, which indicates how dense and strong they are. If your BMD is low compared to normal peak BMD, you are said to have osteopenia.
  • Scoliosis: Scoliosis is a problem with the curve in your spine. Some curves in your spine are normal. But a few people have spines that make a spine from side to side in the shape of the letter “S” or the letter “C.” If this curve is severe, it can cause pain and make breathing difficult.
  • Shwachman-Diamond Syndrome: Shwachman-Diamond Syndrome (SDS), first described in 1964, is a rare, genetic (autosomal recessive), multi-systemic disorder affecting the pancreas, bone marrow, and skeleton. The most common symptoms are pancreatic dysfunction (malabsorption), low neutrophil count and short stature. More info can be found on this page (SD America)
  • Thrombocytopenia: The presence of relatively few platelets in blood. Generally speaking, in humans, a normal platelet count ranges from 150,000 and 450,000 per mm3 (microlitre).
  • IVIG: IVIG is an immunomodulator in that it balances the immune system, strengthening immune systems that are too weak and reducing activity in overactive immune systems. IVIG also contains anti-idiotypes that neutralize various autoantibodies. … In patients with immune deficiency syndromes, IVIG boosts immune function and provides resistance to infection (Suite101).
  • SCIG: This is similar to IVIG but it goes under the skin and is done weekly. A mother of two SDS boys put up a series of pictures showing how it works here.