Local boy, 3, one of 40 worldwide suffering from rare disease

Local boy, 3, one of 40 worldwide suffering from rare disease

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by KELLIE PATTERSON / NBC Charlotte

WCNC.com

Posted on May 23, 2013 at 5:43 PM

Updated Thursday, May 23 at 6:00 PM

CHARLOTTE, N.C. -- Like most 3-year-olds, Lee Cicirelli, enjoys playing outside and being the conductor of his train set, but Lee isn't like most kids his age.

"Lee is our extra special Superman," said his mother, Mary Ann Cicirelli.

Mary Ann said her son was born eight weeks early and had some webbing in his hands and feet, but other than that doctors didn't see anything wrong.

"Actually, myself I have a partially webbed finger and so when my son was born they just said, Oh, it's a hereditary thing."

It wasn't until a surgery to correct the webbing, that the Cicirelli's learned that their son had a much more serious condition.

“He has a rare genetic heart condition called long QT syndrome number 8 which is also known as Timothy Syndrome."

Timothy Syndrome is an incredibly rare genetic disorder that affects many parts of the body.

So Lee and his family headed up to the Mayo Clinic in Rochester, Minnesota where a three day trip turned into three weeks.

"They ended up doing immediate surgery on him to do an internal cardiac defibrillator which is placed in his abdomen. Then they also did something called a left cardiac sympathetic denervation where they took out his left cardiac nerve. That was when he was only 17-months-old and gosh 16 pounds at the time."

Desperate for more information on this rare condition, Mary Ann read about some research being done at Duke and decided to reach out.

In the laboratories at Duke University Medical Center, doctors have been working on some ground breaking research that's providing new insights into how this gene has unexpected effects on tissues outside the heart and brain.

"There are probably less than 30 or 35 patients that have been reported in the world that have this," explained Dr. Geoffrey Pitt.

Dr. Pitt is a cardiologist at Duke who recently published a study on Timothy Syndrome and the effects the disorder can have on the body.

"We ended up doing a study where we showed for the first time how the mutation actually affects formation of the face. So the Timothy Syndrome patients have characteristic large jaw and the process by which that happens was not understood and we were able to identify the molecular pathway that lead to that increased jaw."

Timothy Syndrome was only identified about eight years ago and Dr. Pitt says the gene mutation occurs before a child is born.

"Sometime during development, probably very early in development, the mutation occurs and it affects multiple tissues: heart, brain, pancreas, and some of these other unusual areas such as skin between the fingers."

Although having the full blown syndrome is extremely rare, Dr. Pitt believes there are others out there with just some of the characteristics.

"Our suspicion is that there have now been reports of patients that have a mutation that doesn't affect all the tissues through a complicated genetic abnormality called mosaicism and those patients have a subset of the abnormalities."

Something Mary Ann Ciciarelli knows all about. She was never diagnosed because, until her son had a heart issue, there was no other sign that having a partially webbed finger meant anything was wrong.

"We did some testing on my skin cells and found that I'm a mosaic which means up to half of my cells are affected by Timothy Syndrome," said Cicirelli.

"There have been some rare cases now where in these patients, it was found that one of their parents carried a mutation that probably occurred much later in development for that parent and they were able then to transmit it to their children. For most of the children that have the full blown spontaneous mutation, they unfortunately don't live long enough to have their own children."

Dr. Pitt and Mary Ann haven't officially met yet, but the two are currently in contact and plan to meet soon.

As for Lee?

“He really is amazing. He's been through four surgeries he's been hospitalized six times he has just really, every single time he just overcomes it. It's just absolutely amazing.”

While research will continue at Duke to see if medications can be used to treat Timothy Syndrome, Mary Ann hopes that by sharing her son's story more doctors will consider doing an EKG on children with webbed fingers or toes before performing surgery.

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