Changemaker in Rare: Becky Tilley

This “Kool” mom shares her experience living with and parenting kids with Koolen-de Vries Syndrome

By Gina DeMillo Wagner

Learning that your child has a rare genetic disorder is a profound moment for any parent. But imagine finding out for the first time that you have the same disorder too. That was the scenario Becky Tilley faced the day she learned that she, her infant son, and her then-unborn baby all have Koolen-de Vries Syndrome.

“I could never have imagined receiving a rare disease diagnosis so late in life and still remember my surprise after hearing the diagnosis Koolen-de Vries for the first time, followed by the words, my son inherited it from me,” recalls Becky.

Once the shock wore off, Becky says that the diagnosis was helpful for her to make peace with her past. Growing up, she experienced bullying and difficulty at school. She says she felt different than her peers and never understood why. Becky now sees this diagnosis as an opportunity to provide her children with the childhood that she wishes she could have had.

“I want them to view their rare diagnosis as something special that adds to their unique identity, not that takes away from or defines it.”

“I know all too well the kinds of challenges my children could face as a result of having Koolen-de Vries. I therefore feel I have a unique opportunity and responsibility to show them that they are more than their diagnosis and that their differences are something to celebrate,” Becky explains. “I want them to view their rare diagnosis as something special that adds to their unique identity, not that takes away from or defines it.”

What is Koolen-de Vries?

Koolen-de Vries is not widely known, having only been identified in 2006. It’s a genetic syndrome involving the 17th chromosome. Geneticists say it’s caused by a microdeletion at 17q21.31, or a mutation of the KANSL1 gene. The estimated prevalence is about 1 in 30,000 people.

Koolen-de Vries can lead to various symptoms. It often causes developmental delays, motor function and feeding issues in children, and mild intellectual disabilities. Some people might also experience vision or hearing impairment. However, like all genetic disorders, it can present differently for different individuals. Becky notes that adults and children affected by Koolen-de Vries tend to be very social, outgoing, and friendly—traits that she is proud of.

The Challenges of Parenting Rare

Becky says one of her biggest challenges is finding the energy to care for herself while keeping up with the daily demands of parenting her children. “I can easily forget my own needs,” she explains. She finds ways to look after herself physically, emotionally, and mentally as she addresses the unique needs of each of her kids.

Despite the challenges, Becky says her family is full of joy. “I focus daily on speaking words of hope, confidence, and encouragement over them as I support them in thriving just as they were made to,” she says. “I am their primary role model to teach them to be strong and secure.”

Becky’s Advice to Other Families

What’s Becky’s number one tip for parents facing Koolen-de Vries or other rare disorders? Cherish your children as individuals and celebrate their progress every day. “There is no step too small to acknowledge and value,” she says.

Also, she wants to remind parents to show themselves compassion, since that self-compassion will be passed on to your children. “The world isn’t always kind about others’ differences, so it is up to us to continually build our children’s confidence, self-esteem, and self-respect. They will learn by watching us,” she explains.

Learn More:

Research on the syndrome is ongoing and organizations like the Koolen-de Vries Syndrome Foundation encourage families to reach out and share their experiences. You can find the foundation at kdvsfoundation.org;
Becky recently joined Theresa Bartolotta at Safe Harbour to share her story. Listen here;
Visit https://www.theresabartolotta.com/podcast to access all of Theresa Bartolotta’s available episodes;
In search of a support group? Join Mamas Heart International Support Group and UK KDVS Support Group;
To find clinical studies in rare disease, click here.