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.

 

 

3 thoughts on “Sean Suffers From M-CMTC and Hydrocephalus Yet Brings an Infectious Laugh To Everyone He Knows”

  1. Sue Sharkey says:

    Great to hear Sean is doing so well. My daughter Jamie has this condition also. She is now 13 years old and mostly happy. I remember speaking with you when Sean was only little.
    His picture shows what a smiley boy he is now.
    Sue Sharkey

  2. james loftin says:

    Hi my son is now 5and was diagnosed with mcmtc at birth. He has been threw many surgeries in the past 5 years. Is there any advice you can give to help his mother and me to help with the physical side of the syndrome?

  3. Natasha Humphrey says:

    My son also has this syndrome.and he was also diagnosed with hydrocephalus and I believe had the same surgery as your son. When I click on your story. My heart sank a little. As I looked at the picture of your son. He remind me of mine.it’s amazing on how young they are and have gone through so much and still be so happy.this is the first time I have found another parent with a child with the same syndrome as mine.

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