A Powerful Ally for Sturge-Weber Syndrome

A Powerful Ally for Sturge-Weber Syndrome

At the age of 11 months, Silas, 5, was diagnosed at Lurie’s Children’s with a rare condition called Sturge-Weber Syndrome, a vascular malformation that can affect the skin, eye and brain and that caused Silas to start having seizures at 10 months old. “In a remarkable coincidence, on the very same day, he was diagnosed, The Sturge-Weber Foundation announced that after 25 years of research, they had identified the specific gene mutation that causes this condition. It seemed to us that we had been chosen to help fight this battle. Kris (my husband) serving on the board, and me as Chairperson for the Patient Engagement Network,” says Kellie Sadens, Silas’ mom.

Left to right: Kris Sadens, Silas, Kellie Sadens, Dr. Sarah Chamlin, Dermatology, and Carolyn Kiolbasa, BSN, RN, CAPA, Karen Ball, CEO of The Sturge Weber Foundation

After a four year truce with Sturge-Weber, Silas’ seizure activity returned and he spent three weeks over Labor Day at Lurie Children’s. “We’re happy to share that six weeks later he is back in kindergarten, making friends, keeping pace with his twin sister, Celia, and dancing, laughing, singing and playing his way through his days,” says Kellie. “Living with Sturge-Weber is a roller coaster ride that families living with the condition would never choose to ride, but that bonds them to each other in a special way.” Recently, Lurie’s hosted a Sturge-Weber Family Day to bring together families from around the region to meet each other, share their stories and engage with Lurie Children’s experts in Neurology, Dermatology and Ophthalmology.

Kellie says, “As part of The Sturge Weber Foundation’s Clinical Care Network, Lurie’s Children has become a beacon of interdisciplinary support for Sturge-Weber families like ours. As The Sturge-Weber Foundation continues to support the clinicians, researchers and families all pulling together to help support the mission to find a cure, they have found a powerful new ally in their fight in Lurie Children’s world class staff.”

 

Sturge-Weber (SWS):

Some infants who have port-wine stains also have a syndrome called Sturge-Weber (SWS). About 8% of infants with a facial port wine stains of the upper face and forehead will have SWS. This risk increases to about 25% if the port wine stain covers both eyes, or the entire half of the face. It occurs equally in males and females. Along with the port wine stain, there may be neurological problems such as, seizures, headaches, visual changes, and cognitive and developmental delays. Seizures are the most common problem in infants with SWS. This is due to abnormal blood vessels on the surface of the brain, and other structural changes that can occur in the brain. There may also be eye abnormalities such as glaucoma (increased pressure in the eye), which most often affects the eye where the port wine stain is present.  Less commonly there can be endocrine and other organ abnormalities.

There is a wide range in the problems that children with SWS may have. Some children may have very few health problems and others may have very serious problems. It is important to have a team of specialists available to care for a patient with SWS. Dermatologists, neurologists and ophthalmologists should evaluate your child on a regular basis. There also should be other specialists, such as plastic surgeons, neurosurgeons, interventional radiologists and physical and occupational therapists on staff to provide treatment when necessary.

 

Lurie Children’s, a Sturge-Weber Clinical Care Network

The Sturge Weber Foundation has created standards of care; physicians and healthcare providers that have the expertise to provide the best care for patients with Sturge-Weber Syndrome and meet these standards are called Sturge-Weber Clinical Care Network. Lurie Children’s is honored to be named a Sturge-Weber Clinical Care Network, one of only 18 centers in the United States.

 

 

 

 

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