My daughter has a rare seizure-inducing condition. She wasn’t diagnosed until insurance agreed to pay for genetic testing.

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Kelly Burch | June 13, 2022


Kali Worth and her family. Courtesy of Kali Worth

• Kali Worth’s daughter had up to 200 seizures a day, plus other challenges.
• She eventually was diagnosed with SYNGAP1, a genetic condition.
• This is Kali’s story, as told to Kelly Burch.

I knew something was different about my daughter Kai long before I was ready to admit it. By her first birthday, Kai would injure herself when she got upset, scratching at her eyes and mouth or biting her wrists. She wasn’t walking or communicating well.

A friend with a background in childhood development once pointed out that Kai’s jacket was always falling off. Her body was so limp that the coat just slipped down. I got defensive because I wasn’t ready to admit to myself or someone else that something was wrong.

As a first-time mom, you don’t know what typical development looks like, so it’s easy to push your worries aside. After being recommended to do a genetic testing, we finally got answers.

We got one diagnosis, but the mystery continued

By Kai’s second birthday I started to notice that her eyes would flutter when I told her no. Her doctor initially brushed it off, but then symptoms got worse: Her head would droop, and she would fall on the ground. Finally, we were referred for an electroencephalogram.

Before it was even over, doctors came in with emergency medication. Those eye flutters were seizures. Kai had epilepsy.

Still, our genetic counselor thought there was something else at play. She recommended genetic testing, but our insurance wouldn’t pay for it. We were already paying out of pocket for occupational and physical therapies for Kai.

The financial reality was that we had to choose testing or therapy, and we opted to continue her therapies.

State insurance allowed us to finally get an accurate diagnosis

Eventually, we were able to have Kai covered by supplemental state insurance under a Medicaid waiver program. That meant we could have the genetic testing that led to a diagnosis: SYNGAP1. It’s a genetic mutation that presents with intellectual delays, epilepsy, and autism spectrum disorder, among other complications.

It has no cure.

Rather than relief, I felt intense grief. Before Kai was diagnosed with SYNGAP1, I held out hope that if we could just get her seizures under control she would blossom. But this glitch in her genes wasn’t something that would ever go away.

I had to mourn the life I thought my daughter would have. Kai will never drive, go to college, or live on her own. She’ll always need 24/7 care. That’s a grief that doesn’t go away, but with time it becomes less intense.

At the same time, Kai’s diagnosis brought gifts. We knew what was affecting her, so we could learn more about her condition and what to expect. I found an online community of families living with SYNGAP1 that I could lean on for support.

Kai is making slow progress, and we’re advocating for more research

Having a diagnosis gave us access to more resources. At one point, Kai had up to 200 seizures a day. Today she has much fewer. She can say a few phrases. When she gets into the water she is transformed into a mermaid.

Watching Kai do something she loves and excels at is really great because she faces so many challenges every day.

I’m still learning about living with a rare disease in the family. During the pandemic, like many people, my husband and I stared down our own mortality. We had to answer hard questions about how we plan not just for our own retirement, but for the lifelong care that our daughter will always need.

Raising a child with a rare genetic disease is not a club I ever would have opted into. But now that I’m here, I see the joy, happiness, and hope that my community experiences every day. Being part of this community is beautiful.

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