My name is Patricia and my daughter Mia was diagnosed when she was 2 months old with Macrocephaly-capillary malformation syndrome (M-CM). M-CM is a rare, complex genetic disorder of the skin and other organs that is present at birth (congenital). Affected individuals can have a large head and pink-to-red lacy patches (vascular malformations) on the skin of the trunk, limbs and middle portion of the face.
The discovery of the genetic mutation that causes M-CM was published on June 24th by a team of researchers led by Dr. William Dobyns. The mutated gene is PIK3CA and as previously hypothesized, the mutations were found to be postzygotic mosaic mutations. This means the mutation occurs after cell division begins — it explains the high degree of variability in severity of M-CM characteristics and the absence of familial inheritance.
Mai is now 4 years and she is truly everything to 0ur family and doing remarkable well given her rare condition.
For more information, visit the M-CM Network, a voluntary organization whose mission is to improve the lives of individuals with macrocephaly-capillary malformation.