Hereditary angioedema (HAE) is a potentially fatal genetic disorder caused by a deficient or abnormal blood protein called C1 inhibitor. It causes swelling of the extremities, face, trunk, abdomen or airways. Abdominal attacks can result in severe pain, nausea, vomiting, cramps and diarrhea. The attacks can be spontaneous but may also be triggered by stress, surgery or infection. Death may result when the airways close because of the swelling. Only 1 in 50,00 to 150,000 people worldwide/ 1 in 10,000 to 50,000 in the US is affected by this rare dominant mutation, but the mortality is quite high (30%) so …read more

My heart breaks when I see photos of children suffering from genetic disorders, such as the nine babies from this story. But this story also lauds to the use of genetically modified organisms for producing drugs for treatment.
Recently, scientists discovered a new genetic disorder in nine newborn to 2-week old babies. The infants had swollen bone tissues, bone pain and deformity, and rashes that can range in size from small fluid-filled blisters or pustules to blisters that covered the whole body.
The researchers immediately realized they were looking at an unrecognized auto-inflammatory syndrome, where recurring episodes of inflammation occur …read more

Bethany Jordan may look just like any young girl, except she has an extraordinary story to tell, and she is only six years old.

Bethany was born with a heart that faces her back, two left lungs, a diseased and backwards liver, a stomach on the wrong side and five spleens. So unusual was her anatomy that doctors said her insides looked like a jigsaw, and soon Bethany was nicknamed the “Jigsaw Kid”.

Bethany Jordan has an extremely rare genetic disorder called Ivemark Syndrome that is characterized by misplaced or mis-oriented organs, a poorly-formed cardiovascular system and an …read more

I first learned of this rare recessive disorder mucopolysaccharidosis VI, or MPS VI from the story of 3-year old boy Trey Lane, who suffers from it.
Mucopolysaccharidosis VI, or MPS VI is a rare unpredictable disorder resulting from a deficiency of arylsulfatase B, thus preventing the degradation of polysaccharides. The excessive amounts of polysaccharides in the affected person’s body compresses soft tissues and bones and hinders proper growth of the bones. Most affected individuals have short stature, deformed facial structures, stiff joints, and corneal clouding.
Featured in the Arizona Central, Trey’s story captured media attention when his doctors told him …read more