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Living with Sturge-Weber Syndrome: Ryan’s Story

  • Tom Ulrich
  • 5/31/2013 12:00:00 AM
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About one in every 10 babies is born with a birthmark. Most are harmless and don’t require treatment. Some, however, can be signs 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 and Vascular Anomalies Center member 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.

Liang also suggested that the mark could be a sign of Sturge-Weber syndrome (SWS), a rare condition in which extra but abnormal blood vessels grow on the brain’s surface. The unusual blood flow can lead to seizures, developmental delays, glaucoma and weakness or paralysis on one side of the body. While the total number of people born with SWS is not known, estimates range from one in 40,000 to one in 400,000.

An MRI would be needed to confirm the diagnosis, but because Ryan was otherwise healthy and didn’t have any symptoms, his doctors said they could wait until he was six months old before having the scan. Ryan and his family—including his twin sister, Ava—went back to their home in the Boston suburbs.

The six-month mark, and bringing the team together

When the time came, the McIntyres brought Ryan back to Boston Children’s for his MRI. The results confirmed their worst fear: he had SWS.

Mustafa Sahin, MD, PhD, a Boston Children’s neurologist and co-director of the hospital’sSturge-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 see an ophthalmologist and a glaucoma specialist to assess his risk for glaucoma, a dermatologist to treat his port wine stain, a neurologist and an epileptologist to monitor any seizure activity, as well as a neuropsychologist to check for developmental delays.

“The news was overwhelming, but Dr. Sahin was great,” says Ryan’s mother, Pam, who serves on the board of directors of the Sturge-Weber Foundation. “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.”

The new normal

Ryan at age 3, with his twin sister, Ava. Laser treatments faded his birthmark, and medications were helping keep his seizures under control. (Courtesy of Pam McIntyre)

Three months after his diagnosis, Ryan had his first seizure. At 14 months, he experienced multiple seizures over a four-day span while he was at Boston Children’s for a viral infection.

A few years later, while Ryan’s father was deployed to Kuwait with the Army Reserves, his seizures started picking up again. The family considered ahemispherectomy—an operation for severe epilepsy where surgeons remove as much as one half of the brain—but by using a variety of medications, Ryan’s caregivers were able to bring his seizures back under control after a few months.

Apart from those two extended events, Ryan’s seizure activity has been sporadic, usually related to sicknesses. But between his medications and Sahin’s close watch, Ryan’s seizures have remained under control. So well, in fact, that he’s been seizure-free for nearly three years, allowing his care team to try tapering his medications to a level where they can prevent further seizures with fewer side effects. Still, his family must stay on the lookout.

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

With the help of laser treatment, Ryan’s port wine stain has slowly faded. Every three months until he was about 6 years old, Ryan saw Liang for a treatment with a device called a pulsed dye laser, which destroys the abnormal blood vessels beneath the skin.

Thus far, Ryan’s shown no signs of glaucoma, but he still sees an ophthalmologist and/or glaucoma specialist every year just to be sure. Because of Ryan’s developmental delays, he attends school through an integrated special needs program and works with physical, occupational and speech therapists every week to strengthen and develop his fine motor skills and speech.

So far, so good

Today, Ryan is a happy, thoughtful and caring 8-year-old who is about to finish second grade, likes to plant flowers for his mom and loves playing soccer.

“The coaches in town have been really helpful and understanding,” Pam says. “Ryan sometimes gets overwhelmed by the fast pace of the game, but they’re very supportive.”

With Ryan’s seizures largely under control, the family’s priorities have shifted toward his educational and intellectual development.

“School’s been tough for him, because this is the first year that he’s become aware of his challenges and differences,” his mother explains. “But he’s progressing at his own pace, and we get a lot of support through the school. Our big challenge is to help maintain his confidence.”

Through it all, Ryan’s twin sister, Ava, is by his side. “Ava understands him and is really supportive and protective of him,” Pam remarks. “It’s been pretty remarkable to see.”

Because of Ryan’s seizures, Pam, her husband and other 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. “We’re fortunate that he hasn’t had any major sicknesses of late, which can be a big seizure trigger. When you have growth spurts, you can have seizures again, so that will always be a challenge as well.

“But our primary concern,” she continues, “is that his seizures remain under control and that we support his learning by finding the right balance within an educational program that’s supportive of him and his needs, so he can continue to learn.”

Ryan at his First Communion this spring. (Courtesy of Pam McIntyre)

A team of doctors and nurses at Boston Children’s SWS Clinic, including educational consultantKitty Petty, MA, MEd, LMHC; neuropsychologist Katrina Boyer, PhD; and especially clinic coordinator Jennifer McCrave, RN, have helped the whole family in coping with Ryan’s condition.

“Jen 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. We know her so well now.”

Buoying the family and their care team is the recent news that researchers at Johns Hopkins University have found that a mutation in a gene calledGNAQ causes SWS.

“This is a major breakthrough,” says Sahin. “The study shows in an elegant way that there is a single mutation in the tissues of affected individuals and that only a small number of cells within a given tissue are affected. We don’t yet know why it is that way, but for the first time we have a target for developing a treatment.”

Sahin hopes this discovery will tie in with a project he’s conducting with a team at Children’s Hospital of Michigan on the natural history of SWS and how it develops. “We want to apply an MRI technique they’ve developed to screen children with port wine stains for SWS,” he says. “It’s a method that could also help assess response to any treatments developed based on the gene discovery.”

The family realizes that they have to take things as they come, but in their hearts they know they’re in the right place for Ryan. “We know how fortunate we are to have Boston Children’s world-class care right in our backyard,” Pam says. “Everyone on our team is so personable and caring. We are eternally grateful for that. “

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