www.fda.gov/NewsEvents/Newsroom/PressAnnouncements/ucm289633.htm 31 Jan 2012: FDA approves Kalydeco, treatment for a rare form of cystic fibrosis. Cystic Fibrosis is a genetic disorder impairing the lungs and other organs, It is a rare diseae affecting about 30,000 people in the U.S., however it is the most common fatal genetic disease in the Caucasian population.
nctt.nih.gov/trnd/ The Therapeutics for Rare and Neglected Diseases (TRND) program at NIH works to encourage and speed the development of treatments for rare and neglected diseases.
addiandcassi.com/ Meet Addi and Cassi and learn about Niemann Pick Type C (NPC), a rare genetic illness sometimes called “Childhood Alzheimer’s.”
NPC causes lipids to accumulate at toxic levels in the spleen, liver, lungs, and brain. Every person is born with the Niemann Pick Type C gene, which regulates cholesterol metabolism. A person cannot live without it.
honoringourangels.blogspot.com/2010/12/trisomy-18.html Trisomy 18 is caused by a chromosomal defect that occurs in about 1 out of every 3000 live births. The medical complications of the condition are potentially life-threatening in the early months and years of life. 50% of babies who are carried to term with Trisomy 18 will be stillborn.
rarediseasefoundation.org/ Rare Disease Foundation was establish ed in February 2009 with the goal to change the lives of children and families affected by rare and undiagnosed diseases through social support, advocacy and treatment-focused research. They are a dedicated team of physicians, researchers and parents who know firsthand the difficulties of raising a child with a rare disease.
