Meet Erin. She is eight years old and was diagnosed at age three with M-CMTC macrocephaly-cutis marmorata telangiectatica congenita syndrome or Macrocephaly-capillary malformation (M-CM), a multiple malformation syndrome causing body and head overgrowth and abnormalities of the skin, vascular system, brain and limbs.
The disorder has recently (June 2012) been attributed to a genetic mutation in a gene called PIK3CA.
Erin is the delight of my heart. She recently had knee surgery to correct her leg length discrepancy as she also has hemihypertrophy. She is always full of joy and happiness and lots of hugs. Despite a speech delay, she is a social butterfly.
We feel truly blessed to have such a special child.