NATIONAL - An estimated one million Americans live with a birthmark called a port wine stain. Most think it's just a cosmetic concern, but a port wine birthmark on a baby's upper face and scalp can be the first sign of serious health problems.
Two-year-old Theo was born with a large port wine birthmark on his face and scalp. His first-time parents never imagined it was a sign of trouble.
"We just thought it was a birthmark, but the doctors were concerned. They wanted to do further testing," explained Brandi Shamberger.
At five days old, Theo was diagnosed with Sturge-Weber Syndrome, a rare, debilitating disease. Seizures, partial paralysis and vision problems followed.
"The best thing we did was meet other families and talked to other families and see there are many families living with this," said Brandi.
Port wine birthmarks come from abnormal blood vessels just beneath the skin surface. In Sturge-Weber, they can affect the eye and brain.
Dr. Anne Comi says, "The abnormal blood vessels in the eye frequently cause glaucoma that can result in the loss of vision and the abnormal blood vessels in the brain frequently result in seizures, weakness on one side of the body, a visual field cut and developmental delays."
Not every child with the birthmark will have Sturge-Weber, and determining which ones do is difficult. So Dr. Comi is working on a screening test for early detection - using quantitative EEG - a safe, non-invasive way to measure brain activity.
"If we can figure out what to do to protect their brains and get that started before they start having symptoms, then we have this unique opportunity to really make a difference for these children."
With expert help, Theo is also making progress.
"He's always been just very happy. His middle name is Isaac, which means laughter."
Theo's birth mark faded over the first year which often happens and he's had some laser treatments. For more information about Sturge-Weber, click here.