This is a video documentry from The Foundation for Prader-Willi Syndrome Research Foundation-Canada.
Archive for August, 2008
This video is a documentary from Alachua Arc Prader Willi Syndrome Program.
The day in the life of a little boy living with Prader-Willi Syndrome.
Prader-Willi Syndrome (PWS) is a rare genetic disorder. PWS is caused by 7 non-expressed genes on chromosome 15. The non-expression of these genes have major effects a person. Individuals with this disorder have short stature, poor motor skills, and underdeveloped sex organs. Currently, there is no cure for PWS.
This is the final part of a story about a family struggling to identify their child’s medical condition.
This is the second part of a story about a family struggling to identify their child’s medical condition.
This is the first part of a story about a family struggling to identify their child’s medical condition.
Shwachman-Diamond Syndrome (SDS) is a rare genetic disorder that primarily affects digestive enzymes in the pancreas, blood cells in bone marrow, and skeletal structure. Individuals with this disorder have poor food absorption (malabsorption) and low white blood cell counts (neutropenia). Neutropenia causes a higher risk to bacterial infections. Symptoms of Shwachman-Diamond Syndrome include: diarrhea, neutropenia, thrombocytopenia(low platelets), anemia, skeletal deformities or abnormalities, feeding difficulties, and growth problems.
This family in India has FIVE children who have had the rapid aging disease Progeria. Two have since died. This is the first time in history that a single family has had more than one child afflicted.
ProgeriaHutchinson-Gilford Progeria Syndrome; also known as Progeria and HGPS is a rare, fatal genetic condition characterized by an appearance of accelerated aging in children. Children with Progeria begin showing signs of rapid aging between 18-24 months of age. Symptoms of this disorder include: growth failure, loss of body fat and hair, aged-looking skin, joint stiffness, atherosclerosis, stroke, and cardiovascular disease. Children with Progeria die of heart disease by the age of thirteen years.