Headlines
As reported by WTNH Channel 8, March 22, 2007.
Rare CFC Syndrome Affects Seymour Boy
By Jocelyn Maminta
SEYMOUR - Seven-year-old Luke Lydiksen was born with CFC Syndrome, a genetic condition so rare that so far there is only one confirmed case in Connecticut.
Playing with big brother Erik with mom and dad close by has Luke laughing.
"We are blessed," mom Angie says. "He has a wonderful personality. Typically he's happy all the time. He goes to bed with a smile, wakes up with a smile."
Which is not always easy when life throws a curveball at the start.
"As soon as Luke was born we pretty much knew right then something was different about him," Angie said.
It took doctors nearly four years to diagnose Luke with Cardio-Facio-Cutaneous Syndrome, one of up to three hundred cases worldwide.
"Even though it is very rare it has taught us a lot about genes and how genes work," says Dr. Sally Rosengren, a pediatrician who specializes in genetics at UConn Health Center. She says CFC occurs at conception and is caused by a mutated gene that is also found in cancer.
"This is a signaling gene that brings information into the cell and tells the cell whether to grow, divide or stop growing," Dr. Rosengren said.
In Luke's case there is no on and off switch, Dr. Rosengren says, and that leads to a number of characteristics. Like most with CFC Luke has curly hair, skin abnormalities and developmental delays.
"He is 100 percent dependent on us for all of his care," Angie said. "He doesn't walk or talk."
There is treatment, but only for Luke's symptoms such as seizures, and he undergoes occupational, physical, and speech therapies.
"We hope that he just has a happy life and you know, that they can keep coming up with things to alleviate the things that affect him," Angie said.
This Saturday Luke and his family are hosting a fundraiser at the Riverside Firehouse on Route 34 in Oxford. Every dollar raised goes to CFC International for research.
For more information on the fundraiser or to purchase tickets call 203-881-9186, or 203-231-9571.
For more information on CFC visit www.cfcsyndrome.org.