Oct 20, 2013
05:55 AM
The Connecticut Story

Connecticut Boy One of 11 in World Diagnosed With a Rare Genetic Syndrome

Connecticut Boy One of 11 in World Diagnosed With a Rare Genetic Syndrome

Kate Hartman/Register Citizen

Lauren Straub and her two-year-old son Finn in their Harwinton home.

Finnegan Straub, a happy toddler from Harwinton, has a shock of red hair and bright, smiling eyes. His second birthday just passed on Sept. 6. It was certainly a day for celebration because, when Finn was born a month early at New Milford Hospital, Lauren and Thomas Straub were told that their son would probably not make it to his first birthday.

Finn began experiencing seizures immediately after his birth and was taken to the neonatal intensive care unit at the University of Connecticut Health Center in Farmington. The Straubs began a long, scary process of figuring out what was going on with their newborn. Lauren Straub said that every kind of specialist examined her son during the two weeks he was kept in the NICU.

“A neurologist, a pulmonologist, a geneticist, a dermatologist – you name it we saw them,” said Straub.

Still, the family left the hospital without a diagnosis.

“You go into the hospital with expectations — a picture of what it’s going to be like. You imagine coming home from the hospital with balloons tied to the mailbox. We didn’t have any of that. We came home without him,” Straub said of those first weeks.

Finn was being treated by a dermatologist for a capillary malformation they later learned was a symptom of his condition.

It wasn’t until that dermatologist came to the couple with a medical article published by a Canadian geneticist that they finally discovered what was wrong with their son. Finn was diagnosed with Microcephaly-Capillary Malformation Syndrome (MIC-CAP), making him one of only 11 recorded cases in the world.

“It’s not a good feeling when you don’t know what’s going on,” said Straub. “Having a diagnosis, it doesn’t change anything but it’s an answer.”

See the full story at Register Citizen online.

Connecticut Boy One of 11 in World Diagnosed With a Rare Genetic Syndrome

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