My name is Emily, and my son Sean is 12 years old and was diagnosed with M-CMTC (macrocephaly-cutis marmorata telangiectatica congenita syndrome) or M-CM (Macrocephaly-capillary malformation) syndrome in 1999 at the age of two months. M-CMTC is a multiple malformation syndrome causing body and head overgrowth and abnormalities of the skin, vascular system, brain and limbs.
This rare disorder has recently (June 2012) been linked to a genetic mutation in a gene called PIK3CA.
Sean also suffers from hydrocephalus, a buildup of fluid inside the skull that leads to brain swelling. It is due to a problem with the flow of fluid, the cerebrospinal fluid, or CSF, that surrounds the brain. He also has undergone a endoscopic third ventriculostomy (ETV) for hydrocephalus. This surgery creates an opening to allow the CSF to flow in and around the brain as it should.
Sean has such an infectious laugh and everyone loves him.