Diagnosing and Treating Genetic Abnormality 22q

By Briana Vannozzi

22q is one of the most frequently misdiagnosed syndromes in children and yet, it’s also one of the most prevalent.

“So it’s very common — one in 4,000 children,” said Dr. Peggy Eicher of St. Joseph’s Children’s Hospital.

It’s the second most common genetic abnormality after Down’s syndrome, caused by a missing section or deletion of chromosome 22. And while it doesn’t always present in the same manner, it has the potential to affect almost every system in the body.

“You can have cardiac issues, you can have immunologic issues, can have a cleft lip and palate, you can have just feeding issues,” Dr. Eicher said.

Dr. Eicher explains that 22q has become the umbrella name for the disorder which includes many syndromes and used to go by names like DiGeorge’s or VCFS.

22q is found evenly among males and females and in about 90 percent of cases it’s not passed down from either parent — it’s sporadic.

“He wasn’t swallowing, he was having a lot of problems feeding so they took him in the NICU and they told us that something was wrong,” said mother Graciella Dominguez.

Eight-year-old Alex Dominguez was diagnosed almost immediately. His symptoms so severe, it’s taken teams of specialists to treat his disorder.

“Because DiGeorge’s Syndrome has such a variable phenotype, not every child presents in the same way. There’s a lot of patients that go undetected simply because they don’t have all the features,” said Dr. Punita Gupta, chief of genetics at St. Joseph’s Children’s Hospital.

Early intervention is key for the best outcome.

“It’s over 50 percent, closer to 64 percent of children born with 22q will have an associated cleft or velor problem,” said Gretchen Poage, speech pathologist at St. Joseph’s Children’s Hospital.

Which means it’s likely the patient will be completely non-verbal or have some speech issues.

“We never forget the body is a system and even though parts seem very far away they were very close together when the baby was being formed in the uterus,” Poage said.

“When you do meet other families who have been through a similar journey everybody says the same thing that yeah a lot of people aren’t educated and they just don’t know. People just don’t know about conditions so it’s hard,” Dominguez said.

“Family to family contact is so important because no one knows what it’s like until they’ve walked a mile in your moccasins,” said Pamela Martorana, manager for the Pediatric Feeding and Swallowing Center at St. Joseph’s Children’s Hospital. “So when we can introduce two families who have a child with the same diagnoses, when those mothers talk to one another, they understand each other.”

Which is why the hospital recently hosted 22q at the Zoo, a worldwide awareness day — New Jersey’s at Turtle Back Zoo in Essex County — to bring resources and support for the families facing the unknown.

“If I would say to any newly diagnosed family, I would say just hang in there. You know, it’s going to be okay. You find the way and you find resources and you do whatever you can and that’s our goal in life. As long as Alex is wearing a smile we’re fine,” Dominguez said.