Calvin's Mic-Cap Crusade: What is Microcephaly Capillary Malformation Syndrome (Mic-Cap)?

When Calvin was in the NICU, in mid-November 2012, one of the resident physicians found a paper written about Mic-Cap on the internet and thought that some of the symptoms that they described sounded familiar to what Calvin has. The geneticist at Georgetown University Hospital contacted the researchers who had written that paper and asked if they wanted to, or would include Calvin in their research and they agreed. Blood samples were taken from Calvin, Ryan and I and were sent off to the research facility in Canada. We were told we would get results from that in about 15 weeks. On March 4, 2013, at 4 1/2 months old, the geneticist got confirmation that Calvin has mutations in two genes that have been isolated for Microcephaly Capillary Malformation Syndrome, confirming that he does indeed have that syndrome. The researchers told us that it is an autosomal recessive gene, which means that I carry one of the genes, and Ryan carries the other and we passed both of them to Calvin, and they were mutated, which is what led to the Mic-Cap. This also means that all of our children (Paul as well as any other future children) have a 25% of being born with the same mutations, and they likely carry one of the genes themselves.

As far as I know, Calvin is the 11th confirmed case in the world, so to say it's rare is an understatement. However, there could numerous unconfirmed cases out there and parents who are just at a loss as to what's going on with their child.

Here is a paper written by NIH describing this syndrome: Mic-Cap Syndrome

These are Calvin's symptoms:

Microcephaly (small head)
uncontrollable seizures (he is currently having 150+ seizures a day)
Capillary malformations (spots all over his body)
short toes/nails and hypoplatic toe nails with nail aplasia (his toes and a couple fingers are a little malformed)
poor muscle tone, little head control
severe global developmental delay
mohawk
hair whorls/cowlicks