When Haylei Lapointe first started attending physical therapy sessions at MassGeneral for Children at North Shore Medical Center six years ago, she was quick to tire and lose focus, rarely making it through a full one-hour session. Today the spirited 8-year-old has the stamina to last for an entire session and then some, driven to build her strength and mobility. This kind of progress is significant for a child diagnosed with Rett syndrome, a rare genetic neurological development disorder.
Among the most disabling of the autism spectrum disorders, Rett syndrome affects the way the brain develops, causing a progressive inability to use muscles that control movement, coordination and communication. Most infants with Rett syndrome seem to develop normally at first, then begin to regress after six to 18 months of age, losing the ability to crawl, walk, communicate or use their hands. The disorder occurs almost exclusively in girls.
“As an infant, Haylei was always so easy, she was almost too good to be true,” says her mother, Kathleen, of Salem. “Babies are supposed to cry and fuss, but she never did.”
On March 27, 2008, when Haylei was 13 months old, Kathleen found out why.
“I remember it like it was yesterday,” she says, recalling the day her daughter was diagnosed. “I felt helpless. I had no idea what Rett syndrome was, nor how it would affect Haylei’s quality of life.”
Unlike most children with Rett syndrome, Haylei did not go through a period of regression. Instead, she never developed the physical attributes that most infants acquire during their first year. As the syndrome progressed, Haylei’s symptoms did too, including difficulty walking and speaking, seizures, repetitive hand movements, occasional rocking and the inability to chew.
With the support of her care team at NSMC and close-knit family, Haylei has made steady improvement as she has grown. Today she attends The Children’s Center for Communication in Beverly and has regular physical therapy sessions at NSMC.
“Haylei has a diagnosis that limits the expectation for progress,” says Lori Zambernardi, Physical Therapy Clinical Supervisor at MassGeneral for Children at NSMC. “Even so, she continually amazes us with her progress and desire to work when she comes in for physical therapy.”
The goal of therapy is to maximize safe, functional mobility, including walking, negotiating environmental obstacles, stair climbing and getting up from the floor. Haylei tackles all of these challenges with a bright smile and help from Heather Widtfeldt, her physical therapist at MassGeneral for Children at NSMC.
“While there is no cure for Rett syndrome, there is hope that in Haylei’s lifetime she may be able to hold a toy in her hand, brush her own hair and talk with the words she hears everyone else use,” says her mother. “In the meantime, I continue to appreciate all of the small increments of progress that she makes.”
One not-so-small sign of progress occurred three months ago when Haylei said “I love you” to her mother for the first time. “It may not have been easy for others to understand, but to me it was clear as day and seemed like a small miracle,” says Kathleen. “It’s a milestone I will never forget.”