A Routine Appointment That Changed Everything

When Chelsei brought her daughter Willow to the doctor for a diaper rash, she expected a quick visit and a prescription. Willow was just a year old, giggly, and full of energy. This should have been the kind of toddler appointment you barely remember once it’s over. Instead, Chelsei and her husband Kevin walked out with a referral to a genetic specialist in Milwaukee, and a word they had never imagined would become part of their family’s story.

“Neurofibromatosis (NF)“

“It rocked our world,” Chelsei shared. “You don’t go into an appointment thinking it’s going to change everything.”

During the exam, the doctor noticed several light brown marks on Willow’s skin. Chelsei had always thought they were simple birthmarks. Now she knows they are café-au-lait spots. Willow’s dad Kevin began counting them one by one. When he reached six, the doctor excused himself and brought back a pamphlet and gently explained that Willow might have NF.

In that moment, everything shifted.

NF1 can appear spontaneously, meaning there is no family history. That is what happened with Willow. Later genetic testing confirmed that neither Chelsei nor her husband Kevin has NF. But in the room that day, all they heard was uncertainty. When they got into the car, the tears came.

“The car ride home was filled with disbelief and fear,” Chelsei said. “We were trying to process everything while our one-year-old was giggling in the backseat, completely unaware.”

They walked into their house carrying a weight that had not existed that morning. Chelsei and Kevin both called their moms. Chelsei’s mom drove over right away, reassuring them that it would be okay and reminding them to stay strong for Willow. When they shared the news with extended family and friends, it brought more questions than answers. Most people had never heard of NF. Chelsei found herself explaining something she barely understood herself.

What frightened them most was not just the diagnosis. It was the unknown. NF looks different for every person. Some individuals experience mild symptoms. Others face more serious complications. There is no way to predict where a child will land. “When you start looking things up, you see everything,” Chelsei said. “From very simple cases to the other end of the spectrum. Not knowing where your child will fall is terrifying.”

Today, Willow is four years old. She has had three MRIs in the past year to monitor an optic pathway glioma. She sees an eye specialist every three months for photos and exams. At one of those early MRIs, an area drew attention to her doctors. The next day, they spoke with her genetic specialist and were referred to an ophthalmologist. Since then, they have watched her eye closely. Her most recent MRI showed a slight increase, but everything is currently stable. That word has become important in their home. Stable.

Chelsei and her family live in Green Bay, Wisconsin. There are only two pediatric genetic specialists in the state, and Willow’s care team is based in Milwaukee, about an hour and a half away. Rather than letting those trips feel overwhelming, they decided to reframe them. They drive down the day before just the three of them, do something fun the day before and stay the night at a hotel to be able to get to the hospital right away the next morning.

“She’s the most outgoing four-year-old,” Chelsei said. “She’s carefree. A ball of energy. She loves life.”

Her personality fills the room long before her diagnosis ever does. “She’s amazing,” Chelsei said. “She has the coolest personality. I honestly wish I could be more like her.”

Parenting a child with NF means living in a constant balance. Chelsei and Kevin know they need to stay ahead of Willow’s medical care. They ask questions. They monitor changes. They advocate. At the same time, they are careful not to let fear take over her childhood.

“It’s hard not to overthink things,” Chelsei admitted. “But you have to let her just be a kid.”

Two years after Willow’s diagnosis, Chelsei and Kevin made another important decision. They chose to grow their family. “We didn’t want Willow to go through life alone when we’re no longer here,” Chelsei said. “We felt like we were giving her a built-in best friend.”

Before moving forward, they completed genetic testing to confirm that neither of them has NF, making sure there were no subtle signs that had been missed. Chelsei chose not to pursue prenatal genetic testing due to the risks involved. After their son Bryson was born, they later had him tested for NF. He does not have it.

The decision was rooted in love. In long-term thinking. In imagining Willow’s future and wanting her to have someone who understands her life from the inside.

In the early days after diagnosis, Chelsei often felt isolated. Rare diseases can do that. The world keeps moving, but your own world has shifted in ways few people understand. Over time, that feeling began to change.

Through NF Midwest, Chelsei found resources, information, and stories from other families walking similar paths. Following along on social media, reading updates, and seeing children and adults living full lives with NF helped widen her perspective. It reminded her that this diagnosis does not define Willow’s limits.

An unexpected moment of encouragement came at work when a colleague shared that she also has NF. Chelsei never would have known. She is thriving. Seeing someone living confidently with the same condition Willow has offered a powerful reminder that the future can hold possibility, not just fear.

“Our goal from the beginning was that Willow would see this as just part of who she is,” Chelsei said. “Something unique about her.”

Chelsei and Kevin hope Willow finds opportunities to educate others and build awareness as she grows older. For now, Chelsei has recently felt called to become more involved in the NF community, not only to support other families but to model compassion and advocacy for her daughter. She wants Willow to grow up seeing that caring for others matters. That sharing your story can help someone else feel less alone.

As Rare Disease Month reminds us, millions of families carry diagnoses that most people have never heard of. They carry appointments, questions, and quiet fears, but also strength, love, and hope.

Chelsei’s message is simple.

“Be kind,” she said. “You don’t know what anyone is going through. Everyone is carrying something.”

For this family, that something includes MRIs, long drives to specialists, and moments of uncertainty. It also includes laughter in hotel rooms, dramatic four-year-old performances, and a built-in best friend named Bryson.

NF is part of Willow’s story, but it is not her whole story.

And thanks to community, support, and the determination of two parents who refused to let fear win, she is growing up knowing she is strong, capable, and never alone.