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Mackenzie Geraci's parents hope to raise awareness of her rare genetic disorder, Prader-Willi Syndrome. (Submitted Photo)

Durham parents raise awareness of rare disorder

When twin sisters Mackenzie and Cameron Geraci were born on March 27, 2013, they were eight weeks early.

Mackenzie experienced difficulty right away. She had to go on a ventilator, and her lungs did not seem to get stronger. The doctor’s initial impression for parents Christine and Andrew Geraci of Durham was not scientific. “He said she seemed ‘sloppy,’” said Christine Geraci..

At one month of age, around the same time Mackenzie first opened her eyes, the diagnosis became more scientific - Prader-Willi Syndrome.

Prader-Willi Syndrome is a rare genetic disorder, caused by the absence or suppression of part of chromosome 15. As Christine Geraci explained, “From birth to toddler, it’s a failure to thrive.”

Like many with Prader-Willi Syndrome, or PWS, Mackenzie needed a feeding tube for the first months of her life and still has low muscle tone. “She’s just learning to sit up while her sister is crawling all over,” said Christine Geraci.

PWS is also associated with cognitive disabilities, but the most well-known symptom of PWS is chronic hunger and the inability to feel satiated from eating, which can lead to obesity and other health and behavior problems.

Currently, Geraci said, Mackenzie has “the opposite problem,” an inability to gain weight. “One day, she’s just going to wake up and our world is going to change dramatically.”

Mackenzie currently receives help from the Developmental Clinic at Yale and Geraci has hope for the future. On Saturday, May 17, the Geraci family and friends will participate in the fourth annual Walk and Roll for PWS, a 5K walk taking place at Middletown High School. Money from the Walk and Roll goes to the Foundation for Prader-Willi Research.

Christine and Andrew first attended the Walk and Roll last year, just two weeks after Mackenzie’s diagnosis and while she was still in the hospital. This year, Christine Geraci has been helping to organize the event, which also will feature raffles and Touch-A-Truck opportunities with emergency vehicles. Christine expects a good crowd with about 50 people coming specifically to support Mackenzie.

“As corny as it sounds, we really want to find a cure,” Geraci said. “Of course, there’s no cure. There’s no way to give someone a piece of their DNA.”

According to Geraci, there is promising research being done at the University of Connecticut and at the University of Florida. “If they can find a way to suppress someone’s appetite, they can make a lot of money from it as a weight loss pill,” said Geraci. A method of suppressing appetite would be a great benefit to those with PWS and their families.

In the immediate future, however, Christine Geraci said her main motivation is to raise awareness of the rare and often misunderstood condition.

Registration for the walk begins at 9 a.m. with the walk starting at 10 a.m. Donations can be made at the event or online at www.onesmallstep.fpwr.org.



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