The Caring Connection
In June 2018, Jenna Kloeppel had just returned from maternity leave to her job at a Santa Fe art gallery, while her husband, graduate student Dietger De Maeseneer, was staying at home with their 3-month-old son, Julian.
“Dietger was holding Julian, and he noticed that Julian was doing some strange movements with his mouth and his eyes, so he called me over,” she recalls. They paid a visit to their pediatrician, who thought that it was most likely reflux, so we were sent back home and told to keep an eye on it.
Five days later, Julian had another episode.
“It was very clear to us that it was a seizure,” Kloeppel says. After another urgent doctor’s visit, the young family was referred to the pediatric neurology team at The University of New Mexico Hospital. They piled into the car for the long drive to Albuquerque.
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Kloeppel and De Maeseneer have endured the kind of ordeal in the past year that new parents dread most.
They have had to come to terms with the severity of their son’s diagnosis: bilateral frontal lobe polymicrogyria. It’s a developmental disorder that can cause frequent seizures and profound lifelong disability
And they uprooted their lives in Santa Fe and moved to Albuquerque to be closer to Kloeppel’s parents and Julian’s doctors at UNMH, while Kloeppel has taken a new job working for the Albuquerque Museum Foundation.
Still, sitting on the living room couch in their North Valley townhome, they sound almost matter-of-fact as they cradle their cherubic brown-eyed youngster and discuss the ways in which their lives have changed.
Their daily routine now revolves around controlling Julian’s recurrent seizures, which sometimes spin out of control, requiring that he be hospitalized for intensive treatment with sedatives. Much of his care involves the art of choosing the right mix of medications.
“We’re still trying to patch here and there to get the exact right combination,” De Maesseneer says. “Sometimes we’ll have a particularly bad week, but then the next week seems to be already better.”
Kloeppel says that Julian’s doctors often resort to trial and error to find the most effective treatments. “He’s a special little guy,” she says, “so he picks and chooses the drugs that work for him.”
The couple credits Julian’s medical team with looking out for their own well-being, as well as their son’s, which makes the severity of his diagnosis easier to bear.
“We’ve never had a pediatric neurologist at UNMH walk away without getting all of our inquiries dealt with,” Kloeppel says. “That has been amazing for us, because when you’re going into an unknown situation with an unknown outcome, we don’t have control, but at least we can be as informed as possible.”
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That first night at UNM Hospital was like a waking nightmare. “I was having a panic attack because I had just seen my son have a 10-minute-long seizure,” Kloeppel remembers.
The diagnosis came after Julian was sent for an EEG and MRI scan. The neurologists “were matter-of-fact about it,” she says. “I didn’t start panicking while they were in the room. It was only after they left and I Googled ‘polymicrogyria’ that I realized what we could be looking at, and I understand why they didn’t go there.”
Heartbreaking photos of severely disabled children confronted Kloeppel with the possibility that her son might not ever walk or talk. “We basically got the worst news that anyone could get regarding their child,” she says. “I felt like my world was coming to an end. You’re helpless. It’s the most scared I’ve ever been.”
Sustained seizures can cause brain damage, or even death, so Julian’s neurologists wanted to bring them under control as quickly as possible.
“We tried one medication that didn’t work,” Kloeppel says. “The second medication did work for him for a while, so most of the month of July he didn’t have seizures. We’ve since found out that’s referred to as the honeymoon phase for medications.”
Julian has had very difficult-to-control seizures ever since then, and often has bouts of severe vomiting, she says. “He’ll have better periods, and then periods where it can spiral out of control very quickly.”
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UNM’s John Phillips, MD, division chief for Pediatric Neurology, explains that Julian’s condition is caused by abnormal development of the gyrii – the characteristic ridges and folds on the surface of the human brain. As neurons migrate throughout the brain in utero, “there can be errors,” he says. “One of those errors can involve having too many convolutions – ups and downs – called polymicrogyria.”
Julian’s case is complicated by the fact that he appears to have a subset of polymicrogyria in which too many brain cells are produced, leading to macrocephaly – a larger-than-normal head.
As it happens, Phillips counts as a mentor William Dobyns, MD, a leading expert in the genetics of pediatric brain abnormalities based at the University of Washington who studies DNA samples from children born with problems like Julian’s.
“Dr. Dobyns has been able to identify specific genes involved in some of these polymicrogyria syndromes,” Phillips says. Some of them control what is called the mTOR pathway and are involved in the overgrowth of neurons and other body tissues.
That raises the possibility that drugs targeting the same genetic pathway in other organs might be helpful. Phillips put Julian’s parents in touch with Dobyns and arranged for them to meet when he came to UNM for grand rounds presentations with pediatricians and neurologists.
As a first step, Julian’s DNA is undergoing sophisticated genetic analysis in Dobyns’ Seattle laboratory, Phillips says.
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Many of Julian’s hospital stays last a week to 10 days. “We know that we will see the nurses who have been assigned or volunteered to be Julian’s primary nurses,” Kloeppel says. “At the front desk we see smiling, supporting people that know us by name, they know Julian by name.”
Even the cleaning staff is supportive, De Maeseneer adds. “I’ll be speaking to them and they’ll tell me that he’s so beautiful and they’ll pray for him, and that they pray for him every night and they hope they won’t see him again. It’s just the whole staff has been very supportive.”
One nurse in particular, Nick Byers, brings a special touch to caring for Julian. “He cares very deeply for Julian and he treats Julian with tenderness and so much care,” Kloeppel says. “It’s as if I’m entrusting my son to a family member.”
But despite their best efforts, Julian’s condition worsened during the summer of 2018. His seizures grew more frequent and complex, requiring that he be hospitalized and heavily sedated. “He was pretty much asleep for the whole month of September, or seizing,” Kloeppel says.
Then, in December, they learned Julian was having a type of seizure known as infantile spasm. It’s typically accompanied by an electrical pattern on the EEG called hypsarrythmia, which is associated with developmental stagnation.
“That was the worst time for me,” Kloeppel says. “We still had hope that things would be OK in the long run. I really had a difficult time coping at that point.”
One of Julian’s pediatricians responded to her distress and helped her find psychiatric care. “He treated me like a friend,” Kloeppel says. “He gave me his personal cell phone number and said, ‘You need to take care of yourself, and I will do anything I can to help you.’”
That act of concern touched her deeply. “That was really moving for me as the parent of a medically fragile child,” she says. “It was kind of a game-changer, because from that moment forward I felt supported.”
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UNM neurologist Seema Bansal, MD, is New Mexico’s only board-certified expert in pediatric epilepsy. It fell to her to deliver the bad news about Julian’s infantile spasms to his mother.
“That’s what she had been dreading finding out,” Bansal says. “Without treatment, children can have very bad outcomes, and even now, with the treatments that we have, and all the research that’s been done, there’s still a lot of variability in how children do.”
Frequent seizures can disrupt brain development in babies, Bansal says, underscoring the need to get them under control. “When the seizures are worse, we sometimes see that developmental process slow down or even halt,” she says. “When they’re under better control we see him meeting some milestones.”
Interdisciplinary teams of experts meet with Julian’s parents to make shared decisions about his care, Bansal says. “When they have a sick child that’s waiting for them in a hospital room, to be able to sit down and have a conversation with this group that shows we are all here to take care of your child I think can be very helpful.”
An extra dose of compassion comes with the job, Phillips says.
“Whether or not you have your own kids, you cannot help but have a human, emotional reaction and response,” he says. “I think it’s important for us to listen and be part of that emotional journey, knowing that it’s a little scary for all of us. We’re all doing the best that we can.”
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As Julian’s second summer unfolds, his parents have settled into their new life, one that they would never have envisioned for themselves.
“We are happy where we are,” Kloeppel says. “At one point I felt like I would never be happy again. You have to adapt as a parent of a child who can have four seizures a day, on a normal day – whereas that was devastating when we were first in this situation.”
The key, she says, is that she, De Maeseneer – and her parents – work together as a team. “We’re all here to help Julian get through those days, and that is our new normal.”
De Maeseneer says he has gleaned “little nuggets of wisdom” along the way, like when Julian was having a particularly bad day, and the visiting occupational therapist reminded him of his son’s resilience.
“That really made it click,” he says, “because these seizures are really bad and the throwing up is horrific to see. But at the same time, that’s what he knows, and he knows how to fight it, and he’s been fighting it his entire life, and he’s moving forward.
“So I got a lot of strength out of that and try not to be down with everything that goes wrong, because in the end, he’ll pull through.”