“Henry! Wake up!”

In typical, high-spirited fashion, three-year-old Lola Happel demands that her baby brother open his eyes to look at her.

Lola’s got a spitfire, girly-girl personality. She’s not quite a diva, her mother says, but she’s pretty darned close. Partial to dress-up clothes, she typically changes outfits three times a day. Jingle Bells is a favorite tune and Lola does ballerina leaps and spins across her living room. And frequently, the Happel’s four-pound Maltese becomes a shark that Lola must hide from.

“She’s a big personality in a little body,” explains her mother Amanda. “And she has a great imagination.”

Impossibly long eyelashes shade Lola’s big blue eyes, and blonde hair frames her olive-toned face. In fact, Lola is the picture of perfect health. But when she was 6 months old, Lola was diagnosed with Sturge-Weber syndrome, a blood vessel malformation in the brain, skin, and eye. One of the early signs was the port-wine birthmark that covers Lola’s right eye and eyebrow, extending from her upper lip to her hairline.

“With rare disorders like Sturge-Weber syndrome, there aren’t a lot of resources immediately available to parents and that lack of knowledge can be daunting,” says Dr. Anne Comi, director of the Hunter Nelson Sturge-Weber Center. “Our goal is to give families the knowledge they need to live successfully with the disorder.”

Amanda admits that Lola’s a very lucky little girl: unlike many children with Sturge-Weber, she shows no signs of eye problems, she has had only one seizure, and the port-wine birthmark has been lightened remarkably by four laser surgeries.

Still, at a slight 25 pounds, Lola’s parents and her doctors are a bit concerned about her size, since about 61 percent of children with Sturge-Weber have a growth hormone deficiency. Endocrinologists suggested growth hormone therapy, but Lola began throwing up while on the medication and then had her only seizure—making her parents reluctant to give it another try. 

In the fall, Lola will start preschool—a step that she and her family are ready for, thanks to the support of the Hunter Nelson Sturge-Weber Center at Kennedy Krieger. She’ll fit right in with the other headstrong kids. There’s no doubt she’ll soon have her classmates falling in line—just like her little brother.

— by Laura Laing