Crying to be heard: raising awareness about Cri du Chat

Logan

Shortly before Logan Collins was born, a prenatal ultrasound suggested a possible problem with her heart. Her mother, Erika, went into labor the next day, two weeks shy of her due date. Logan was born at just 5 pounds, 5 ounces and had a weak, high-pitched cry that sounded like a cat meowing.

“When I became aware of her birth weight and heard her cry, I had a good idea something was going on, but I didn’t say anything at the time,” Erika says. She suspected Logan had the same disorder as one of her cousins. Chromosomal testing in the Division of Genetics at Boston Children’s Hospital confirmed it: Logan’s fifth chromosome had both a deletion of one piece and a duplication of another. She was diagnosed with Cri du Chat—a rare genetic disorder whose name is French for “cry of the cat.”

At age 2, Logan had a small opening in her heart surgically closed at Boston Children’s Hospital, and she has been followed by the hospital’s departments of Cardiology, General Pediatrics and Neurology ever since. Now almost 5, one of her main problems has been managing her frustration. “Her cognitive skills are strong, but she struggles to achieve certain tasks, such as manipulating objects due to physical delays and issues with maintaining attention,” her mother says.

Logan started walking on her own close to her fourth birthday and started talking in earnest at age 4. At that point, “everything kind of exploded,” says her mother. “She’s been showing steady improvement every week, talking more and more. The positives of watching her achieve her milestones definitely outweigh the negatives of her disorder.”

That’s the message Erika wants to spread during Cri du Chat Awareness Week (May 5 to 11).

“On an Internet search, people might think that Cri du Chat is a horrific disorder,” she says. “There’s lots of outdated, mostly negative information about what it entails. People are told, ‘your child will never talk or walk, your child will never be able to eat regular food.’ But as with autism, there’s a wide spectrum of ability in this disorder, and with hard work, children with Cri du Chat have amazing capabilities.”

As she nears the end of preschool, Logan is showing a great deal of capability.

“Logan has always tested within a few months of her age on cognitive skills,” says her mother. “Before she could really talk, she could pick out all the letters of the alphabet. Now, if you write down the names of her classmates, she can point them out—the beginning stages of reading. She has a great memory and sense of humor. We treat her with the same expectations and the same discipline as our other children. It’s amazing to see her accomplish what she seeks to accomplish.”

To learn more about how Boston Children’s doctors help patients like Logan, please visit the Cardiology, General Pediatrics and Neurology teams and ask to speak with one of our experts.

For parents wanting information on Cri du Chat, Erika recommends visiting http://www.criduchat.org/ and http://www.fivepminus.org/.