At four and a half years old, Tucker Lewis is thriving. He loves playing with his friends, riding his bike outside, and watching the Atlanta Braves (He’s even going to a game later this year to celebrate his birthday!), but when Tucker was diagnosed with a rare condition called Sturge-Wever syndrome in infancy, his family never knew what life would bring.

According to Graham Lee of WJBF, his family learned of his diagnosis when Tucker was born with a port-wine stain on his face. Initially, doctors surmised that it was a bruise – but this was quickly proven, instead, to be a birthmark. Port-wine stains can result without an association with a rare condition. However, in some cases, port-wine stains are associated with either Sturge-Weber syndrome or Klippel-Trenaunay syndrome.

Two weeks after his birth, doctors diagnosed Tucker with glaucoma. Both glaucoma and a port-wine stain are characteristic symptoms of Sturge-Weber syndrome. At just two weeks old, his family found themselves grappling with the diagnosis. Doctors were unable to provide his parents with much information; Tucker’s mother Megan told WJBF that doctors even told the family that Tucker may never walk or talk.

Managing the condition was challenging for the family. By the time Tucker was six weeks old, he had already undergone two eye surgeries. Every 1.5 to two months, the family would travel so Tucker could receive laser treatments. Eventually, the family began searching for a new intervention.

They found the Kennedy Krieger Institute and Dr. Anne Comi.

Dr. Comi is an expert in Sturge-Weber syndrome; in fact, she even identified the causative gene for this condition in 2013. Throughout her studies, Dr. Comi has focused on how to reduce seizures in children with Sturge-Weber syndrome. Most individuals with this condition develop seizures before two years old.

Through this connection, the Lewis family enrolled Tucker in a study at the Kennedy Krieger Institute which explored the impact of presymptomatic treatment on early-stage seizures. The study found that presymptomatic treatment at early ages greatly reduced the risk of, and incidences of, seizures. It was effective for Tucker who still remains seizure-free today.

Tucker’s story, and the findings from the Institute, suggest that presymptomatic treatment could greatly transform outcomes for patients and their families.

Understanding Sturge-Weber Syndrome

Sturge-Weber syndrome is a rare vascular disorder characterized by abnormal blood vessels in the brain (leading to neurological abnormalities), a port-wine stain, and eye abnormalities such as glaucoma. GNAQ gene mutations cause this disorder. This mutation is not passed down through families. Instead, it occurs after embryo fertilization. Sturge-Weber syndrome is a highly variable disorder. Symptoms, presentation, and severity may significantly differ between those affected. Not every person will have all three of the main characteristics. Potential symptoms related to this condition include:

• Different-colored eyes
• Vision loss
• Retinal detachment
• Headaches
• Developmental delays
• Eye development abnormalities
• A light pink to dark purple birthmark that usually affects one eyelid and/or the forehead on one side of the face
• Seizures that occur on the side of the body opposite of the birthmark
• Macrocephaly (an abnormally large head size)
• Muscle weakness and/or paralysis
• Optic atrophy
• Increased risk of stroke

Sturge-Weber syndrome can be managed using a multi-pronged approach which can include anti-epileptics and low-dose aspirin, laser therapy, eye drops or surgery, physical therapy, and brain surgery in severe cases.

Learn more about Sturge-Weber syndrome from our Patient Worthy partner, the Sturge-Weber Foundation.