DiGeorge Syndrome

1. DiGeorge Syndrome Microdeletion of 22q11.2 • Cardiac (aortic arch) • Abnormal facies • Thymic hypoplasia (Recurrent viral and fungal infections) • Cleft palate • Hypocalcemia (hypoPTH)

2. Until he was 16, Quinn Bradlee practically lived in the hospital. Growing up, his ailments included a hole in his heart, epilepsy, dyslexia and a weak immune system that left him chronically sick. Finally, when he was a teenager, he was diagnosed with velo-cardio-facial syndrome (VCFS). VCFS is the result of a random mutation that causes a small part of Chromosome 22 to be deleted. More than 180 symptoms can be associated with VCFS, including learning disabilities, developmental delays, psychiatric disorders, immune disorders, congenital heart disease and cleft palate. About 50% of VCFS patients are classified as mentally retarded. Quinn Bradlee, 25, has velo-cardio-facial syndrome. His parents, Ben Bradlee, left, and Sally Quinn, right, spent years trying to figure out what was wrong with their son. (June, 2007)

3. Hereditary angioedema (HAE) occurs in around 1 in 50,000 people. Patients lack an effective enzyme known as C1 esterase. Symptomology includes non-itchy swellings of the face, mouth, tongue, neck, throat and larynx. Swellings within the abdomen is also a common symptom, resulting at times in severe abdominal pain. Attacks that affect the throat can be life-threatening. Attacks may be elicited by trauma and physical or psychological stress (although most occur without a recognizable trigger).   Symptoms last from two to five days if left untreated. It has been reported that the escalation period from the onset of symptoms to a full-blown attack ranges from twenty minutes to as long as fourteen hours and that patients experience an average of twelve attacks per year.