“It’s pretty rare and we were one of the lucky chosen ones.”
So said Taimie Hoffman of she and her husband, Michael, learning of their nine-year-old daughter, Alexa’s, diagnosis with Cri du Chat - a French term for call of the cat - Syndrome. Experts estimate only one in every 50,000 children - which equates to 50 to 60 annually - are born affected by Cri du Chat (also known as 5p-) Syndrome, which is attributed to a deletion in the short arm of the fifth chromosome.
“The reason they called it that is because when they’re first born, their cry sounds just like a kitten,” Taimie Hoffman explained, adding that other medical issues associated with Cri du Chat may include a small head, heart defects, a club foot, hypertension and feeding difficulties.
“It was first diagnosed in the 1960s, so it’s a fairly new syndrome,” Taimie said. “This isn’t like autism. Unfortunately, it’s so rare that doctors are still giving out outdated information from the 1970s.”
Taimie and Michael Hoffman’s own experience is indicative of the need for education and awareness.
“When she was born, we were told that she would never walk, she would never talk and that she wouldn’t live past her first birthday. In fact, we were told we should institutionalize her, because it would be better for our family,” she recounted. “My husband and I looked at each other and said, ‘Let’s let this make us or break us.’ We’ll have been married 14 years on June 20, so it hasn’t broken us up yet.”
As for Alexa’s grim prognosis, she continues to live her life to its fullest, perhaps unaware she does so in joyous defiance of those who deemed her to be dispensable.
Now a third-grader at Upson-Lee Elementary South, Alexa, although unable to speak, does utilize a communication device and sign language, as well as gestures.
“She does very well at communicating her needs,” Taimie said. “She loves school. She’s in a self-contained classroom, but she does go to all the camps, which are computer, art, music and P.E., and she eats in the cafeteria with all the other students. We incorporate her as much as possible with her typical peers. They learn as much from her as she learns from them, such as compassion and empathy.”
Those invaluable life lessons have also been passed on to the Hoffmans’ other three children - Kaila, 12, Jet, 7 and Ryan, 5, who in turn both help and challenge Alexa to achieve new and greater successes in life.
Having experienced firsthand the myriad of challenges associated with raising a child with such a unique diagnosis, Taimie has chosen to dedicate her efforts as a member of the board of directors of the 5p- Society of North America, which provides support to other parents who also find themselves among the lucky chosen ones.
To accomplish its goal of increasing knowledge of the syndrome, the 5p- Society of North America, along with support organizations worldwide, has declared the week of May 13-19, 2012, as Cri du Chat Syndrome Awareness Week, with May 16 set aside for particular recognition.
Taimie explained that because the short arm of the affected chromosome is referenced as P, and because it is the 16th letter in the alphabet, that date was chosen for particular significance.
“We’re just trying to get awareness out there,” she said. “We’re trying to let people know what it is and that it’s out there.”
With Alexa having already proven her initial physicians wrong, the Hoffmans have a clear goal for their little girl’s future, a goal shared by parents of typically developing and special needs children alike.
“For her to live as normal and happy of a life as possible,” Taimie said.