Rare congenital disorder may cause seizures!

Lanti Carlson says his battle against Sturge-Weber syndrome has made him a tougher person.Lanti Carlson of Kila not only understands the Sturge-Weber Foundation’s motto — “the stronger the wind, the tougher the trees”— he lived it.

Born with Sturge-Weber syndrome’s port wine stain on his face, Carlson said he got ejected from several schools for fighting before the second grade. He remembers the pain of childish taunts.“Kids called me cherry-pie face,” he said. “It’s definitely made me a stronger person — because of my strong parents.”

Carlson finally found an academic home at Muldown Elementary School. By the time he reached the fourth grade, the teasing and harassment stopped, thanks to work by the principal and staff.But insensitivity hasn’t just been confined to children. Carlson said adults stare for prolonged periods.“My mom and I would embarrass people right and left,” he recalled with a laugh.

“I’d say don’t get too close, you’ll catch it.”Carlson, now 38, credits his mom’s support with helping him adjust to living with Sturge-Weber syndrome, a rare congenital disorder that may cause seizures, cognitive losses and even death, along with the port-wine-stain birthmark.Even though he lost vision in one eye, Carlson considers himself lucky because he suffered no mental delay or other dire consequences.“The eye was really the only problem I ever had — I grew out of the seizures,” he said.

“There are just so many who weren’t that lucky.”Carlson keeps abreast of others with the syndrome as well as ongoing research via the Sturge-Weber Foundation and its founder, Karen Ball.“My mother got in touch with Karen back in 1987,” Carlson said with a smile at Ball.Ball came with Carlson to the interview to help raise awareness of the syndrome, which afflicts her 22-year-old daughter Kaelin.

Ball was in the Flathead visiting her parents, Bev and Stan Fisher of Bigfork, while reaching out to other families coping with Sturge-Weber.As chief executive officer of the foundation, she develops resources for support and treatment of the syndrome and raises money for research for a cure.“I started the foundation when my daughter was 3 years old,” she said. “That was before the Internet and there was nothing.”She and Carlson urge people to accept differences in how people look and teach their children to do the same.

They also hope to motivate people to donate to the Sturge-Weber Foundation, which makes grants for medical research and provides support to people with the syndrome.“Our most-requested item is a card that tells about the syndrome,” she said. “If you have a day you don’t want to talk, you can just hand people the card.”She recalled many incidents when, as a young mother, people asked for an explanation of Kaelin’s prominent port wine stain. Some days she didn’t mind, but other days, the stress of coping with the syndrome tested her patience.

Kaelin Ball had three surgeries for glaucoma in her first three months of life. Karen Ball still recalls the impact of hearing from doctors that she should expect Kaelin to have seizures and perhaps serious cognitive challenges.“It was really devastating,” she said. “Sure enough, at one year, she started having seizures.”Carlson said his seizures also started at 12 months. At the time, his mother had no idea that the port wine stain that included his left eye was anything more than a cosmetic concern.

“Then at 1 year old, I suddenly slipped under the table,” he said.Growing up, Carlson and Kaelin suffered from indiscreet stares but neither have mental delays. Ball said children who begin having seizures earlier, at six months, have a less favorable outcome.According to foundation information, three in every 1,000 children are born with a port wine stain referred to as the most common vascular malformation. Of these, only 8 to 16 percent have Sturge-Weber syndrome.“It has a genetic basis but it’s not necessarily hereditary,” Ball said.

“It happens during the eight- to 10-week gestation period.”She foresees a cure just over the horizon with continued support for research. So far, the foundation has awarded about $750,000 in seed grants of $60,000 to $90,000 for research to spawn larger investments through the National Institutes of Health.Treatments under investigation include cancer drugs that attack angiogenesis, the unchecked proliferation of blood vessels at the root of the syndrome’s destructive results, such as the loss of Carlson’s sight at age 18.

“In my case, the extra blood made the eye wall grow thick,” he said.Several operations failed to restore his vision. Carlson said he only realized he was completely blind in his left eye when he walked into a wall at Whitefish High School.He also has had 25 laser treatments, which lightened but did not eliminate his port wine stain.“My goal was to eliminate blood blisters, which it did,” he said.Without treatment, the vessels causing the stain may grow and become raised, causing puckering of the skin that may interfere with seeing, breathing and eating.

Ball said her daughter has lip problems from that process.Both Carlson and Ball have spent thousands of dollars out of pocket for expenses related to travel as well as co-pays for treatments. The foundation, including a Kaelin Ball Scholarship, has helped other Montanans go to specialists.“We have 11 centers of excellence,” Ball said. “An example is Denver’s Children’s Hospital.”Neither Ball’s daughter nor Carlson have let their struggles with Sturge-Weber hold them back from pursuing their dreams.

Although Kaelin has a birthmark over two-thirds of her face and glaucoma in both eyes, she has achieved a 3.5 GPA at York College in Pennsylvania.Carlson wrestled competitively in high school, won a college scholarship and recently returned to the Flathead where he works at Plum Creek. Along the way, he also earned a pilot’s license, learned to scuba dive, was married and now has a family.The Sturge-Weber Foundation has also thrived.“We started with 40 families and now have about 4,000 worldwide,” Ball said.

Along with helping people with Sturge-Weber, the foundation assists patients with port wine stains and Klippell-Trenaunay syndrome, another vascular disorder with a port wine stain and dire consequences, such as atrophy of a limb.Ball encourages people to donate what they can, adding that as little as $5 helps to mail out information and to keep the Web site current to help families cope.“Not every parent is as strong as Karen or mine,” Carlson said with a smile.

“They can go to the Web site and get empowerment.”For more information, visit www.sturge-weber.org or call 1-800-627-5482.