Sturge-Weber Syndrome Clinic Patient Stories

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Ryan's Story

About one in every ten babies is born with a birthmark. Although the cause of birthmarks is not known, most are harmless and don't require treatment. Some, however, can be a sign of a serious problem.

When Ryan McIntyre was born, a dark red birthmark covered his left eyelid and part of his forehead. Within days, Boston Children's dermatologist Marilyn Liang, MD, diagnosed the discoloration as a capillary malformation, a common type of birthmark sometimes called a "port wine stain" because of its purplish color.

Dr. Liang also suggested that the mark could be a sign of Sturge-Weber syndrome (SWS), a rare condition characterized by excessive blood vessel growth on the surface of the brain that can cause seizures, developmental delays, glaucoma, and weakness or paralysis on one side of the body. The total number of people with SWS is not known, but estimates range from one in 40,000 to one in 400,000.

An MRI would be needed to confirm the diagnosis, however, which doctors wanted to perform when Ryan was six months old because the anesthesia risk is less at that age.

Since he was otherwise healthy and wasn't showing any symptoms of SWS, Ryan and his family--which included twin sister Ava--went home to suburban Boston.

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Diagnosis

When the six-month mark arrived, the McIntyres returned to Boston Children's for Ryan's MRI. The results confirmed their worst fear: a diagnosis of SWS.

Mustafa Sahin, MD, PhD, a Boston Children's neurologist and co-director of the Sturge-Weber Syndrome Clinic, immediately met with the McIntyres to discuss their next steps. Because SWS can affect so many parts of the body, he laid out a plan of care that included frequent appointments with various Boston Children's specialists.

Ryan would have to meet with an ophthalmologist to be examined for glaucoma, a dermatologist to treat his port wine stain, a neurologist to monitor any seizure activity, and behavioral and educational therapists to check for developmental delays.

"The news was overwhelming but Dr. Sahin was great," says Pam. "He was the first to admit that he doesn't have all the answers. There is so much uncertainty with how Ryan's situation will evolve because so much varies from child to child. But Dr. Sahin has always been extremely optimistic given how well Ryan has progressed and has always been very positive."

Ryan's Symptoms

Seizure

When Ryan was nine months old, he had his first seizure. At 14 months, he experienced multiple seizures over a four day span when he was hospitalized with a viral infection. He has had eight seizures since then and has been followed closely by Dr. Sahin.

"You never get used to it," says Pam. "Each one is an earth-shattering event and is very upsetting."

To help control the seizures, Ryan takes an anti-seizure medication (Trileptal or oxcarbazepine) everyday.

Port Wine Stain

Over time, Ryan's port wine stain has slowly faded with the help of laser treatment. Every three months, he sees Dr. Liang who uses a device called a pulsed dye laser to destroy the abnormal blood vessels beneath the skin.

The treatment, which usually takes about ten minutes, feels like a rubber band snapping against the skin. If anesthesia is not used, an anesthetic cream is used to numb the area being treated.

"He doesn't like when it's happening," says Pam. "We have to hold him in place. But by the time we're in the car on the way home he's fine, unless it's a sedation treatment which takes a bit longer to recover."

Immediately after treatment, a purple discoloration appears at the treatment site. Ava calls it "Ryan's polka dots." This discoloration lasts for about a week then slowly fades to normal skin color. To ensure the best results, Ryan must avoid the sun and wear a hat or sunscreen to prevent a tan which inhibits the laser treatment and increases the chance of side effects.

So far, Ryan has had seven pulsed dye laser treatments and will need further sessions as he continues to grow.

Other symptoms

Ryan has shown no signs of glaucoma but continues to see an ophthalmologist every six months. He has exhibited some mild developmental delays, however, and has weekly sessions with a physical therapist, occupational therapist and speech therapist who work with him to strengthen and develop his fine motor skills and speech.

Today

Today, Ryan is a happy three year-old who spends most of his time playing with his sister and going to pre-school.

Because of Ryan's seizures, Pam, her husband and caregivers must keep a close eye on him. Everyone knows what to look for and how to react when a seizure happens.

"It's always in the back of your mind," says Pam. "If he's playing in another room and I don't hear him, I have to yell 'Ryan are you okay?' In the car I need to watch him in the rear-view mirror. We always feel like we're just waiting for the next one to happen. Our fears are heightened further if he has so much as a slight cold."

Helping them cope has been the team of doctors and nurses at Boston Children's Sturge-Weber Syndrome Clinic.

"It's been difficult three years but the doctors at Boston Children's have been great. Dr. Sahin is so accessible. I've emailed him a question and gotten a reply within five minutes or he'll call me wherever I am," says Pam. "It's just so comforting to know that he's there."

Jennifer McCrave, RN, the Sturge-Weber Clinic Coordinator has also been a huge help.

"Jennifer has been a godsend," says Pam. "I can't say enough about how much she means to me and my family. I can call her when I'm upset or when I have questions, and she knows exactly what to say and is always incredibly caring and sympathetic to our concerns. She's just great."

"We feel so fortunate and blessed to have so many caring people in Ryan's life. We haven't taken for granted for one second that we are receiving the best care in the country at Boston Children's which, fortunately for us, is so close by."

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