TOMS RIVER – Silverton residents Kristy and Jeremy Salkewicz were on top of the world when they brought their firstborn home from the hospital eight years ago. The couple instantly fell in love with James and were overjoyed and relieved to see he appeared to be a big healthy baby.
Despite their growing adoration for their son, Kristy and Jeremy acknowledge that their feeling of ease was brief. Within three weeks of bringing James home, the first-time parents began to worry that something just wasn’t right.
“Everything was perfect,” recalled Kristy. “And I suddenly noticed that James’ lips were a slight greyish color. I almost felt it was something only a new mother would notice.”
Kristy shared her observations with a nurse she knew, who advised her to speak to the pediatrician about them. The nurse suggested James might be experiencing sleep apnea, which is generally more common in premature babies.
What followed was an incredibly alarming event. Upon checking on James after putting him to bed, Kristy was terrified by what she saw. No longer was it just a matter of her baby boy’s lips being slightly discolored. Instead, Kristy now observed with horror that James’ entire head had turned grey.
Kristy had already begun researching infant apnea based on her discussions with her nurse friend. She remembered what she had learned about assisting a baby in recovering from an apneic episode and put her knowledge into action.
“I was blowing on his face and tapping on his feet,” Kristy said. “He wouldn’t come out of it; he was just frozen.”
All of a sudden, James began to cry, and Kristy hugged him close to her body. James wanted no part of nursing and fell back to sleep for the entire night.
Kristy recounted the incident to her nurse friend, who emphasized the importance of seeking prompt medical attention for James. The nurse warned Kristy that the situation could worsen to the point where it might be difficult to intervene, leaving James in a precarious position.
As both parents attempted to come to grips with the fact that something could be wrong with James, they initially downplayed their initial fears. Jeremy and Kristy wanted to believe the issue was nothing more than a case of gas interfering with their newborn’s sleep. The couple was confident that everything would be fine.
Jackson, left, opened up about his brother James. (Photo by Stephanie Faughnan)
Nevertheless, doctors admitted James to the hospital for two days and ran a battery of tests. Finally, they sent James home with an apnea monitor to capture his sleep patterns. Unfortunately, the answers didn’t start to make sense until after Kristy was able to video James during one of the episodes.
“He was three months old, and it was just before Christmas,” recalled Kristy. “He was asleep in his stroller like a new baby and suddenly woke up.”
James appeared to be mouthing something as he looked to the side, almost as if he was trying to communicate. Then, out of nowhere, James began crying from a deep sleep, and Kristy attempted to soothe him. Although she couldn’t pinpoint the exact problem, Kristy sensed something was off, as James seemed unusually lethargic.
Once concerned that they might be overreacting, Jeremy and Kristy wanted answers. A call to the pediatrician landed them in Jersey Shore Medical Center’s emergency room. A neurologist called for a consultation, watched the video, and determined that James had had a seizure.
James began his first course of anti-seizure medication that worked for a few days. Jeremy and Kristy became so hopeful – until the seizures broke through. Moving on to the next anti-seizure drug required weaning from the first, as many of these medicines are addictive, and James could not be abruptly taken off them.
Each medication came with its side effects, from potential heart damage to peripheral vision loss. Some drugs could only be obtained from off-label pharmacies. Nonetheless, both parents felt desperate – they were willing to try anything.
“I couldn’t even count the number of ‘episodes’ as we called them back then,” Kristy said. “There were times there were over 100 in one day.”
“They needed to give him intravenous drugs to knock him out,” added Kristy. “To kind of calm his brain down.”
Medical consultants at the Children’s Hospital of Pennsylvania were equally puzzled why none of the medications would work. So when James was six months old, doctors suggested genetic testing to see what they could learn.
The tests revealed that James’ seizures were not caused by a genetic condition he inherited from his parents. However, James did have a form of epilepsy caused by a spontaneous gene mutation.
KCNT1 epilepsy is a rare and severe form of epilepsy that can cause developmental delays and other health problems. Its resistance to anti-seizure drugs is one of the key characteristics of the disease. The diagnosis finally explained why none of the medications given to James could halt his seizures.
“After the doctors determined the diagnosis, they knew there was an old medication that would help James,” Kristy shared. “He was the second one to try it, and the seizures started to dissipate.”
Kristy said she preferred not to release the name of the medication and added that the drug could have a potential adverse side effect on the heart.
Researchers believe that KCNT1 mutations caused James to experience malignant migrating partial seizures of infancy. James began showing evidence that he was developmentally delayed as a result at a young age. For example, he did not reach for toys or meet typical milestones as he grew older.
At 8 years old, James is non-verbal and unable to walk. A school bus takes him to the Lehmann School in Lakewood, where he has both therapies and learns at a slower pace.
“They work on seeing if he can make eye contact in a field of two,” said Kristy, “And maybe look for a letter or listen to songs. He’s got aides who just help him along. The school also gives James some socialization.”
When he’s around his family, there’s no doubt that James is particularly happy. He has an infectious giggle, almost instantly triggered when his little brother makes silly noises.
Jackson, age 6, took his mom by surprise when he opened up about James. Usually somewhat reserved, Jackson admitted he liked pushing his brother’s stroller and enjoyed pulling pranks on the nurses who sometimes visit.
“He takes James in stride,” Kristy shared. “Jackson is really the sweetest thing to him, and I can tell James really likes it when he’s with his brother.”
The Salkewicz family has two dogs, a black lab named Indy and a yellow lab named Duck, who eagerly await James’ return home from school so they can give him kisses. However, James is not fond of the dogs licking his face after he eats and will make a fuss.
Kristy said daily prayer is a critical part of her life and remembers asking God to stop the seizures. Watching her son’s little body become tired was difficult as the episodes came one after the other.
“They still kept coming,” said Kristy. “It was so frustrating.”
A chance encounter with a random stranger changed Kristy’s way of thinking. A store clerk said his grandfather told him that no matter how bad you think you have it, somebody else always has it worse.
Kristy swears the young man was put on her path to deliver a message, one that didn’t make sense at the time. Her prayers changed to expressing gratitude for the things she could. For example, James can breathe on his own, and he can eat – both things everyone takes for granted.
“There are only about 200 children known to have KCNT1 epilepsy,” said Kristy. “There’s more and more getting diagnosed because genetic testing is key. They couldn’t find out what it was without it, and the testing is helping to target treatment.”
The KCNT1 Epilepsy Foundation supports parents who may feel alone in finding resources. According to Kristy, the Foundation is also trying to raise awareness and donations for drug research and development.
“I am doing as much as I can to participate in all the surveys they (the Foundation) provide,” Kristy shared. “They’ve been looking for blood samples, so we’re working on getting blood to them from James.”
James also participated in a year-long natural history study, which required Kristy to document seizure activity and sleep. The family has also participated in interviews with a doctor and a psychologist and donated James’ saliva in conjunction with a study in Chicago.
“I felt like I was not helping enough at first because I was so used to doing this on my own,” said Kristy. “Now there are these people who want to get the word out – and we’re not the only ones anymore.”
The post Local Boy’s Journey With Rare Epilepsy Offers Hope to Others appeared first on Jersey Shore Online.
