Quinnlyn Walters is a bright, bubbly, and active 8-year-old. She loves reading, riding horses, swimming and softball, karate, Star Wars, and spending time outside with her friends and family. But when Quinnlyn was first born, and diagnosed with Sturge-Weber syndrome soon after, her family wasn’t sure what her future would look like. 

Exploring the Idea of Treating Before Symptoms 

According to Fox43, a local TV station in Central Pennsylvania, Quinnlyn was born with a port-wine stain. This birthmark, often found on the face, results from abnormal blood vessel formation below the skin. While port-wine stains may occur on their own, these birthmarks can also be associated with Klippel-Trenaunay-Weber syndrome or Sturge-Weber syndrome. The doctor encouraged Quinnlyn’s parents to visit a specialist just to check. This led to Quinnlyn’s Sturge-Weber syndrome diagnosis. 

Most children with Sturge-Weber syndrome develop seizures before age 1. Driven to protect their child in any way they knew how, the Walters family began searching for potential interventions. Their neurological team suggested an NIH-funded research study co-conducted by Boston Children’s Hospital and the Kennedy Krieger Institute. The study focused on pre-symptomatic treatment and whether treating children prior to symptom manifestation would have an impact on their development. Quinnlyn was enrolled in the study and began receiving low-dose aspirin and anti-epileptic medicine at just three months old. 

The study found that pre-symptomatic Sturge-Weber syndrome treatment reduced the risk of seizures before age two. Prior data suggests that 88% of children with Sturge-Weber syndrome were diagnosed with early epilepsy. In this study population, only 53% of children began experiencing early seizures. Further, the study researchers explain that the presymptomatic treatment also improved outcomes by age two. 

While more research could, and most likely will, be done on Sturge-Weber syndrome and early treatment, Quinnlyn’s family is thrilled at the results—and hope that other families can take advantage of methods like presymptomatic treatment to delay seizure onset. Quinnlyn remains on her treatment plan today.

You can read more about Quinnlyn and her story over at Fox43.com.

About Sturge-Weber Syndrome 

Also known as: Encephalotrigeminal angiomatosis 

Resulting from GNAQ gene mutations, Sturge-Weber syndrome is a rare congenital vascular and neurological disorder. Sturge-Weber syndrome is characterized by:

• A port-wine stain that may range in size and color
• Abnormal blood vessels in the brain that lead to abnormalities such as:
  • Seizures occurring on the opposite side of the body from the port-wine stain
  • Muscle weakness and/or paralysis
  • Headaches
  • Developmental delays and/or intellectual disability
  • Vision problems
• Eye abnormalities such as:
  • Glaucoma
  • Different colored eyes
  • An enlarged eyeball
  • Optic atrophy
  • Retinal detachment 
  • Vision loss

However, it’s important to note that Sturge-Weber is a highly variable disorder. Individuals with this disorder may have one, two, or three of the above characteristics. Additional symptoms may include central hypothyroidism, macrocephaly, tissue overgrowth under the port-wine stain, and lymphatic malformations. 

There are no cures for Sturge-Weber syndrome but it is manageable using eye drops or eye surgery, laser therapy, physical therapy, anti-seizure medication and low-dose aspirin, and brain surgery (in severe cases). 

If your child was diagnosed with Sturge-Weber syndrome, you are not alone. Consider checking out the resources from, and reaching out to, the Sturge-Weber Foundation, one of Patient Worthy’s partners.