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Rare syndrome could mean brain surgery for local child

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Christina Harper of Roswell, center, with her four children, from left, Braeden, 7, twins Dyanna and Eliajah, 2, and Arianna, 10. Eliajah has been diagnosed with Sturge-Weber Syndrome, a rare neurological disorder caused by a random genetic mutation. Harper frequently takes Eliajah to Albuquerque for visits with specialists and is preparing to travel to Maryland in July to visit a medical center that specializes in SWS. (Juno Ogle Photo)

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Christina Harper is a woman who is almost always on the move.

“I’m never in one spot for too long,” she said.

That’s probably not unusual for a single mother of four — Arianna, 10, Braeden, 7, and twins Eliajah and Dyanna, 2.

However, what mainly keeps her on the go is Eliajah. He seems like a normal toddler, walking or crawling around to explore his environment, reaching for things that sometimes his mom has to stop him from grabbing, and laughing and smiling at people.

But he’s about seven or eight months behind developmentally where most children his age are. He does not speak and he has some paralysis on his left side that he’s been receiving occupational therapy for since he was 5 months old.

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In his first year, he was hospitalized four or five times for seizures, Harper said. At the same time he had the seizures, Eliajah suffered stroke episodes, which caused the paralysis. It’s likely he will have brain surgery.

“At this point, it’s a matter of when,” Harper said.

Eliajah was diagnosed with Sturge-Weber Syndrome, a rare neurological disorder caused by a random genetic mutation during development in the womb.

Eliajah frequently sees specialists in Albuquerque — four overnight trips in April alone — and in about a month the family will make a trip to Baltimore, Maryland, to a medical center that specializes in SWS.

The first sign of Eliajah’s condition was one many babies are born with, a birthmark. The port-wine colored mark on his forehead and face was more noticeable when he was born in December 2018, Harper said, but as he’s gotten older, Eliajah’s skin has gotten darker, making it harder to see.

At first, the birthmark didn’t concern Harper.

“Some babies are just born with marks and they go away,” Harper said.

About three in 1,000 children are born with port-wine birthmarks, according to the Sturge-Weber Foundation, but less than 15% of those children have SWS.

At the three-month checkup for Eliajah and Dyanna, the doctor suggested having the mark checked by a dermatologist just to make sure it was nothing more.

The dermatologist suggested a same-day appointment with an eye doctor and said a neurologist should see Eliajah as well. The birthmark could indicate more blood flow to that side of the head, which could lead to increased pressure in the eye causing glaucoma, or damage to the optic nerve.

“She wanted to make sure it wasn’t already affecting his eye and if we needed to track it,” Harper said.

Glaucoma can lead to blindness, so Eliajah sees an ophthalmologist every three or four months.

It’s not the only serious symptom of Sturge-Weber Syndrome, however. About 80% of children with SWS also have neurological abnormalities that can lead to seizures. Eliajah had his first seizure when he was about 5 months old.

“His very first seizure was 20 minutes,” Harper said. “I’m freaking out because he’s shaking, I’ve never seen a seizure, he’s a baby, his whole mouth is twitching.”

She took Eliajah to the emergency room but doctors there were unable to stop the seizure and he was flown to a hospital in Albuquerque. A neurologist saw him then, and while doctors had discussed SWS with Harper, Eliajah had yet to be diagnosed. It would be another four months before Eliajah could have a follow-up visit with a neurologist.

In the meantime, Harper started doing some research on SWS and learned of Dr. Anne Comi, director of the Hunter Nelson Sturge-Weber Center at the Kennedy Krieger Institute in Baltimore, Maryland. Comi led the research that in 2013 identified the gene mutation that causes SWS.

For families whose insurance does not cover SWS, Kennedy Krieger allows one visit a year at no cost to the family.

“That grabbed my attention right away because I said ‘OK, great, if my insurance doesn’t work, I know she’ll see him,’” Harper said.

She contacted Comi and a visit was arranged. Comi was certain Eliajah had SWS, Harper said, and it was later confirmed by an MRI back in New Mexico.

Eliajah is now taking two anti-seizure medications and eyedrops that help control the pressure in his eye. He hasn’t had a seizure in about a year, Harper said.

During a virtual visit with Comi last year, Harper learned Eliajah is a good candidate for brain surgery to treat his SWS. At first, Harper was elated at the news. But then she did some of her own research again.

“I began to realize that a lot of people don’t have his seizure episodes until they’re much older,” she said.

“He’s been in a good plateau. We went a year without a seizure and I’ve been holding my breath. If they start again and we can’t control them, he has to have brain surgery,” she said.

Eliajah’s recovery — which could take as long as six months — would have to take place where the surgery would, at Johns Hopkins Hospital in Baltimore. For Harper, who has spent her whole life in Roswell, that’s a daunting proposition. She agonizes over whether or not she would just take Eliajah or the whole family.

“I’ve never lived on the East Coast, but that’s something I would do for my son. I know I could make it, I know I could survive but that’s scary when your home is here,” she said.

While Eliajah’s insurance covers the medical visits, the upcoming trip to Maryland and the many trips to Albuquerque are becoming a financial burden, Harper said. She has started a GoFundMe that has so far raised about $1,300. Crash Site Candies has also started a fundraiser for Eliajah.

Asking for help was not easy to do, Harper said. Her mother and sister and some friends are able to help out some, she said.

“I do have some family that’s there for backup, but I carry the brunt of it,” she said.

Working from home over the last year has helped, she said, but she’s constantly thinking about Eliajah’s therapy or planning the next trip in addition to worrying about the possibility his seizures might return.

“Any time he might have to have surgery and that’s my reality. I’m trying my hardest as a single mom, and I want to work. I don’t want to sit out, I have no desire for that, but it may be my future and that’s a hard reality for me to face,” she said.

Despite all that she is dealing with, Harper does have hope, she said.

“There’s kids just like him that go and lead a normal, healthy life, don’t develop the glaucoma, never experience any paralysis. If we can keep the seizures at bay, that would be the hope,” she said.

Eliajah is now old enough he could take part in clinical trials for the treatment of SWS through Kennedy Krieger.

“Maybe in his lifetime they may find a cure. That would be amazing,” Harper said.

City/RISD reporter Juno Ogle can be reached at 575-622-7710, ext. 205, or reporter04@rdrnews.com.

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