A Conversation Starter

As a personal injury attorney with Hupy and Abraham’s Green Bay office, Rob Domol has always strived to gain expertise in the medical issues that befall his clients and to approach each one with genuine empathy. Then, in February 2019, his youngest daughter Willa received the devastating diagnosis of Rett syndrome.

“I’ve seen people gain abilities and lose them—I’ve seen that with my own family,” he says. “It’s given me a deeper understanding of people who had abilities taken from them.”

At about 18 months old, Willa started missing developmental milestones. The family watched as accomplishments she’d already made were taken away from her.

“She was able to throw a ball and run around before she started losing motor skills,” Domol recalls. “She had a vocabulary of probably 40 to 50 words before she started losing her speech. Now she’s nonverbal.”

Initially told she had autism, Domol and his wife noticed other symptoms that didn’t fit the diagnosis. They pursued genetic testing, which confirmed Rett syndrome, a rare neurological disorder caused by a mutation in a single gene. It disrupts brain development and is reported in roughly 1 in 10,000 births worldwide, according to the International Rett Syndrome Foundation. It primarily affects girls and can impact every aspect of a person’s life, including the ability to speak, walk, eat and even breathe.

“It’s completely random,” Domol says. “As far as we know, we’re not carriers and there’s no family history of it. It’s just genetic bad luck.”

The diagnosis was a difficult pill to swallow. “We were worried that we wouldn’t be able to provide Willa with some of the normal experiences of other kids,” Domol recalls.

Domol and his wife worried how they’d provide lifelong care, and wondered if they’d ever enjoy family ski trips or bike rides.

Fortunately, despite the rarity of Rett syndrome, there is a strong support network and numerous resources. Domol and his family reached out to various organizations, and traveled out of state to meet up with other families. These connections have been a boon for family morale, and help provide a life for Willa that her parents never thought possible after the initial diagnosis.

Willa, now 10, rides on jet skis, eager for dad to go full throttle. They go on family ski trips where she’s also earned a reputation as a thrillseeker on the slopes, taking advantage of adaptive equipment.

“She goes straight down the hill with a huge smile on her face, and it’s cool to see that because she can’t express it verbally, but she definitely expresses it in other ways,” Domol says. 

Meanwhile, the family is actively seeking ways to mitigate the disorder. Willa has participated in a clinical drug trial that ultimately got approved by the FDA to manage symptoms. As this is a single gene disorder, Rett syndrome is, theoretically, treatable with new medical technology under research that could reverse its symptoms.

Rett is just one of many single gene diseases that will benefit from advancements in gene therapy or editing, Domol says. “With every rare disease that can get an effective treatment, or a ‘cure’, hopefully it sets up a domino effect for others,” he adds.

Since Willa’s diagnosis, the family has been actively engaged in fundraising and raising awareness about Rett, and they’ve been recognized on the Rett Syndrome Research Trust “Cure 360” Wall of Donors for ongoing financial contributions.

Domol describes Willa as exuding confidence, joy and humor. “That’s what’s exciting about some of these treatments in the pipeline,” he says. “If you can peel away the disability from the genetic problem, those things that we know are already in her are going to come out more and more. Hopefully, at some point in her life, these treatments will get so good that I’ll be able to have a conversation with her.”

Reversing Rett

The Domol family supports the Rett Syndrome Research Trust. You can learn more and donate at reverserett.org