CUMBERLAND — Her brother’s life with Down syndrome could have been a problem for Eleanor Saffian and her family.

Instead, they have celebrated something that makes Charlie unique and has inspired Saffian’s career path.

The Cumberland native is a senior at Wake Forest University in North Carolina, where she studies genetics. This summer she is an intern at Massachusetts General Hospital’s Down Syndrome Program in Boston.

Down syndrome is a genetic disorder caused by an extra chromosome. The National Down Syndrome Society notes that while all those with the disorder have cognitive delays, “the effect is usually mild to moderate and is not indicative of the many strengths and talents that each individual possesses.”

People with Down syndrome also have small stature, low muscle tone, an upward slant in the eyes, and one deep crease along the center of the palm, according to the society, which says “every person with Down syndrome is a unique individual and may possess these characteristics to different degrees or not at all.”

Saffian, 21, who has four younger brothers, was 9 when Charlie, the youngest, was born. He just turned 13.

“I was interested in (the situation) from the educational perspective of what is Down syndrome,” she said last week.

There was also the personal perspective. Her parents had explained to Saffian and her brothers that Charlie had special needs, and would take longer to do things, but that he would be able to do everything his siblings did.

Charlie was born prematurely. “Even with all the tubes attached to him, and the respirator and everything like that, it was just love at first sight,” Saffian said. “And we knew that Charlie was going to be a perfect addition to our family.”

All the children made hand prints after Charlie was born; his hand showed the crease that points to Down syndrome. But that’s a mark of what makes Charlie special, his sister said.

All the siblings are close, too. “We all kind of deal with the Down syndrome in our own way, in terms of how it has affected our life, but Charlie … is one of us,” Saffian said, adding with a laugh, “He gets in trouble for things, and loses his iPod. When we go out to eat dinner, he orders his own. … He’s just a normal guy.”

He’s also a pro at Xbox, often beating Saffian, she fondly pointed out.

“We all have different things that make life kind of hard at times, and … we just try to look at Down syndrome as one of those things that can make life challenging,” she said, “but can also make life wonderful.”

Saffian noted, for instance, that “Charlie doesn’t have a mean bone in his body. Everything is great for him, and no matter what is going on, he just cares about everyone in the room, and wants to make sure that everyone is happy and … having the best time of their life, because that’s what he’s having.”

Her time with Charlie triggered Saffian’s pursuit of a career as a genetic counselor, hoping to help parents who have children with Down syndrome, and clearing up misconceptions about the disorder.

Saffian has done research with Clifford Zeyl, an associate professor of biology, on the evolution of genetic systems. And at Mass General she is mixing “her knack for genetics with her love of working with people like Charlie and their families,” according to Will Ferguson, assistant director of news and communications at Wake Forest.

Through her internship Saffian is working on simplifying the guardianship process for adults diagnosed with chronic conditions like Down syndrome, and looking to establish focus groups with patients aged 12-25 and their families to streamline the transition process from a pediatrician to an adult practitioner, Ferguson explained.

“I definitely am looking into the career of genetic counseling,” Saffian said, “but I … I am also keeping my options open in terms of really finding the best way for me to help the people with Down syndrome that I care so much about.”

“Having Charlie in my life has opened so many doors for me in terms of seeing people with different situations and trying to be … compassionate and understanding towards that,” she added. “… I would just hope that people can look at our friends with Down syndrome and see how really praiseworthy they are.”

Alex Lear can be reached at 781-3661 ext. 113 or alear@theforecaster.net. Follow him on Twitter: @learics.

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Cumberland native Eleanor Saffian, right, has been inspired to pursue a career in genetics by her brother, Charlie, who has Down syndrome.

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