Tracey and Jeff Clobes are parents of Abby, a 9-year-old girl with a rare genetic disorder, Williams Syndrome. The couple shares their challenges and blessings, and how they found help.
Abigail Clobes, 9, has Williams Syndrome, a rare genetic disorder that affects about 1 in 10,000 births. The condition is marked by a friendly personality with increased sociability and relative strength in language. Individuals with Williams syndrome tend to share certain facial features, such as fullness around the eyes and a wide mouth with full lips. They may also have medical concerns including narrowing of the blood vessels, changes in the amount of calcium in their blood, learning concerns in school, and/or slow growth in childhood.
Parents seek answers
Initially, Abby’s parents, Jeff and Tracey Clobes, knew she was developmentally delayed. Abby’s speech therapist had experience working with a child who had Williams Syndrome and suspected Abby might have the condition. Abby was diagnosed at age 3 through genetic testing at another hospital but it was St. Louis Children’s Hospital where they found the compassion and concern for Abigail’s condition that allowed them to understand their options.
“Until your child receives diagnosis and treatment, you’re scared,” Tracey says. “You can’t get any answers because Williams Syndrome is so rare that most people have no knowledge of the problem.”
Fortunately, the Williams Syndrome Association (WSA) became their base of knowledge to better understand the condition. The association provides resources for families, doctors, researchers and educators. The Clobes were no longer alone in their journey of raising and caring for a child with special needs.
It was at St. Louis Children’s Hospital where a genetics specialist confirmed Abby’s condition.
Jeff and Tracey say the hospital has helped in several ways:
- Whenever Jeff and Tracey have questions about Abby and Williams syndrome, they contact Dr. Beth Kozel, a Washington University genetics specialist at St. Louis Children’s Hospital and director of the Williams Syndrome Center, one of only a handful of centers across the country. “Dr. Kozel is usually quick to get back with us with any information we need,” Jeff says.
- In a day’s visit to the hospital, the family has convenient access to all the specialists that Abby needs – helping her with her heart, her kidneys, her diet and more. Because all the specialists are in one location and share information, there’s no need for the family to make separate appointments elsewhere.
- Clinic staff collaborate with school districts to ensure patients like Abby can access therapy and other resources for successful participation in the learning environment.
- Through diagnosis and treatment, the Clobes family has the confidence they need to face a life-changing disease and disorder. “It is what it is, and we move on with it,” Jeff says. “You can make the most of it and create a good situation.”
Counting their blessings
Jeff and Tracy choose to focus on how they can prepare Abby for the road ahead instead of focusing on the challenges and obstacles. Getting help is their foremost recommendation for other parents.
They also suggest that parents of children with Williams Syndrome take time to count their blessings.
“If you wake up in a bad mood or you’re having a bad day, Abby always has a way of making you happy or comforting you,” Tracey says. “She’s very empathetic, very caring toward her friends and family.”
Says Jeff: “We’re blessed with the fact that we know every morning when Abby wakes up, she’s going to have a smile on her face, and she’s going to put a smile on your face. By and large, she is very healthy, and she has adapted well to Williams syndrome.”