By Karen Dandurant
PORTSMOUTH — May 11 is awareness day for Cornelia de Lange syndrome, a rare genetic disorder.
The Lyons family of Portsmouth knows all about it. Their son Luke, now 11, was born with CdLS, which has variations from mild to severe. Luke’s condition is considered severe.
As described by his father, Patrick, Luke has a flat facial appearance because he has no filtrum, that vertical indentation between the end of the nose and top of the upper lip. He has the characteristic small hands and feet, and stands at 3 feet, 11 inches, and weighs 42 pounds.
“He was born deaf and is considered legally blind,” said Lyons. “He lost an eye to the self-injurious behavior, common in the syndrome. He hits himself, hard, and caused a retinal detachment. He now must wear a helmet, with a face guard, and arm restraints to try and prevent further injuries. He is non-verbal and can’t get his wishes across, so he copes by hurting himself.”
Lyons said his son’s gait is challenged and he does not really walk. Some children with CdLS can talk, but not Luke.
“He is in a tough position,” Lyons said. “Mentally he is a 9-month-old, who can’t tell us what is going on, and so he hits himself, sometimes hundreds of times a day. Bathing him is a two-person job; one to hold his hands and the other to bathe him.
“When something like this happens in your family, it’s like dying a little death. I had to find a way to wrap my arms around this, to learn as much as we could. So, I got connected with the Cornelia de Lange Foundation and became involved. We love our son, but there are many challenges every day.”
CdLS is a rare developmental disorder that is present from birth, caused by a spontaneous, not yet understood, gene mutation. The syndrome was named after the Dutch children’s doctor Cornelia de Lange, who first described the disorder in 1933. It is estimated that it affects 1 in 10,000 to 30,000 newborns, and it is not always recognized by medical practitioners.
Lyons said when Luke was born, he was “super cute” but the doctors thought there was something a bit off about his appearance.
“His ears appeared low and there was no filtrum,” said Lyons. “He failed some of the newborn tests. One of the pediatricians had seen a similar case in Seabrook.”
At 7 weeks old, he was sent to Dartmouth-Hitchcock Medical Center for the final diagnosis.
“When Luke was diagnosed, there were two genes identified as being affected,” said Lyons. “Now there are seven identified through research. There are so many more advancements.”
CdLS can affect many parts of the body, physical, cognitive and behavioral.
“It is always present at birth,” said Bonnie Royster, executive director of the Cornelia de Lange Syndrome Foundation. “The degree to which it presents can vary widely. The foundation has become a family connection, a way for others to talk with and learn from each family experience.”
Royster said the CdLS Foundation came about through parents.
“Moms banded together, wanting to learn more about what was happening with their child,” said Royster. “They wrote letters around the world. They incorporated in 1981. Now we have 10 staff members and a slew of volunteers, medical consultants and researchers.”
Royster said the foundation works nationally and internationally, offering support and advocacy.
“There is no cure,” she said, “but we developed treatment protocols. For example, your child is exhibiting a certain set of symptoms. Here’s how others approach this.”
“I met families and became excited by what I learned,” said Lyons. “I wanted to help. We meet at gatherings and it is great for me and my wife Karen. It is also great for Luke because there are kids like him there. It’s great for my two other children, Delaney, 13, and Owen, 10, because they talk to other siblings of kids with CdLS. My kids love Luke. Delaney is best at understanding him, picking up on his clues.”
Royster said while the other signs are heartbreaking; it is the non-verbal piece that seems the most challenging for families.
“Some can communicate, but others, the most they might get is a grunt,” said Royster. “That is not the same, or even close, to having a child say ‘I love you,’ or even, ‘I am in pain.’ Some of the kids can have selective mutism, meaning they will talk and then decide not to.”
Luke attends public school in Portsmouth. Lyons said it is not enough for him, and he is exploring options, because the family feels he needs a residential placement.
Lyons said the family uses a few residential services to get some respite for the family, such as One Sky Community Services in Portsmouth and Cedar Crest in Keene.
“He seems to enjoy being there with kids who are struggling as he is,” Lyons said. “So, we are looking at residential options. There are a few possibilities in the area. We are trying to work with the school district for assistance. Owen and Delaney love him, as do we, so there is concern there. The kids want to know how often they can visit, can he come home for visits? My children have grown into very compassionate young people.”
Lyons said Luke needs surgery on both of his eyes, due to damage and cataracts. He said doctors have told him they will not do the surgery until he is placed in a 24-7 residential treatment program.
Lyons serves as president of the CdLS board of directors. He and Luke attended their first CdLS National Family Conference in 2010 in Dallas, when Luke was 2 years old. Since then, both Delaney and Owen have attended family conferences.
“I want people to know more about CdLS,” said Lyons. “I want them to recognize it in their community. There may be people who have CdLS and it has never been diagnosed. If parents recognize any of the signs after reading this article, I want them to know the CdLS Foundation is there to help support them.”
To learn more, visit the CdLS Foundation website cdlsusa.org, and for a first-hand look at its work search for Spotlight On Cornelia de Lange Syndrome on YouTube.