Lina in the Light

Estimated read time: 3-4 min

Diana can tell you exactly who her daughter, Lina, is. “She just has this purity about her, this innocence and sweetness,” Diana says. “She’s calm and open and loving and patient, and she’s strong.”

Lina is 6, with big gray-blue eyes and a fluff of brown hair. She was diagnosed with CDKL5 deficiency disorder at 3 months. It wasn’t always easy, in the months and years after Lina’s diagnosis, for Diana to know her daughter. Through the seizures and the missed milestones, Diana struggled to understand who Lina was and who she might become.

“When she was diagnosed and I was conceptualizing her as a person,” Diana says, “I didn’t feel that she was a full person because I didn’t think that that’s what a full person is.”

But Diana and her husband, Bryan, showered Lina with affection even when she didn’t respond. It didn’t matter, Diana knew, whether they got something back. “I wanted her to feel loved.”

Those were difficult years. Some days, Lina’s seizures were few, and she could go to school, or sit outside in the sun with her younger brother Jacob. Other days were harder, Bryan and Diana holding Lina as she screamed for hours, unable to tell them what she needed.

A bad day, says Diana, is “like living on a boat in the middle of the ocean, in a storm. You can’t get ahold of anything; nothing is ever still.”

When a seizure begins, their stomachs drop. During the first few years, they feared that “any seizure could be a trip to the hospital, or worse,” says Diana. In time, that fear lessened, as they learned more about what to expect during Lina’s seizures and how to support her. But they still feel acutely how a seizure disrupts Lina’s day and the family’s time together, what Diana calls “lost days”—missed school, missed therapy, and time with Lina that they can’t get back.

The family tried various seizure medicines over the years but weren’t happy with many for long. ZTALMY became available when Lina was 5 and Diana saw the opportunity to try something different. Their doctor agreed.

After starting ZTALMY, Lina experienced sleepiness. Diana worried about missing more of Lina’s waking hours and wanted to taper off the medicine, but her husband and their doctor wanted to give it more time.

Diana, who often leads the decision-making for Lina’s care, realized she couldn’t always make those decisions alone. “Bryan said, ‘Let's wait,’” she remembers. “It was the right call.”

Lina’s sleepiness subsided, and her seizures became less frequent. She still has bad days, but more often, at school and in therapy, Diana says Lina is “awake and engaged, able to participate.” And the effects have rippled through the household: fewer seizures, when Lina is rested and comfortable, mean more good days for everyone.

“When she sleeps all day, when she doesn’t engage, I really miss her,” Diana says. Fewer seizures for Lina have meant that “we’ve done more things together as a family this past 12 months than we’ve done in any year together. Because she could participate.”

Recently the whole family visited a market at a nearby farm. They strolled through the vendors of vegetables and flowers, enjoyed the fresh air, and ran into a couple of families they knew from Jacob’s school. “We just hung out,” Diana says happily. An ordinary, perfect day.

Knowing what frequent seizures can take from them makes moments like those sweeter. Even just greeting Lina when she wakes each morning feels, Diana says, “like the sun shining through the clouds.”

“When I look at Lina,” she says, “I see a whole universe inside her. All I want to do is continue to get to know her.”