How a heart that is broken physically works flawlessly when it comes to emotion. For children born with Williams Syndrome, compromised heart function opens the door for an unlimited capacity to love.
Maya is a happy, playful 18-month-old.
“The moment I get home from work, the moment she wakes up, she’s usually always smiling and happy,” says Maya’s father Scott Ottenheimer. “We celebrate and get so excited about the milestones because they mean so much to us.”
When Maya was born in February 2016, she had a heart murmur.
Maya’s mother Jenna Ottenheimer says, “In her case, the heart murmur ended up being a serious defect. She was born with narrowing of both her aorta and pulmonary arteries. It was absolutely devastating. It was the darkest time of my life.”
It was the first indication of their newborn’s complex medical condition. And as Scott and Jenna braced for their daughter’s open heart surgery, the first of several procedures, they learned of Maya’s diagnosis — Williams Syndrome.
“People say, ‘What’s Williams syndrome?’ And I say, ‘I’ve never heard of it either before Maya,’” Scott says.
“Children or adults with Williams Syndrome can experience a whole host of medical problems,” says Dr Darrel Waggoner, medical geneticist at the University of Chicago Medicine. “They can experience problems related to growth, development, eating.”
Williams Syndrome is a genetic condition that affects one in 10,000 people worldwide.
Dr Waggoner says it stems from a chromosome abnormality.
“This is a picture of chromosome 7. This white band that’s the piece of genetic code that’s missing or deleted,” says Dr Waggoner. “If you think of your genetic code as a set of instructions on how to grow a heart and develop your brain, if you are missing some of those instructions then it leads to changes.”
Jenna explains, “Maya has a couple other medical problems we follow. We see gastroenterology for acid reflux. Her kidneys are affected.”
Along with regular monitoring of her medical issues, Maya receives several hours a week of physical, occupational and speech therapy.
“I’m very proud of her and how far she’s come in 18 months,” Jenna says. “She’s crawling and pulling to stand and we feel confident she’s going to walk soon. She will talk one day. It’s just with Williams Syndrome the delays can be life long.”
Amanda and Andrew McDaniel understand completely.
Like Maya, their son Tom was born with a major heart defect.
“We’re very proud,” says Andrew. “We’ve worked very hard to bring him along.”
Amanda’s pregnancy was uneventful, but as soon as her son was born, he was rushed to the neonatal intensive care unit. And within days it was confirmed he had Williams Syndrome along with another condition that caused problems with his legs and spine.
“It was a lot to digest, a lot to take in,” Amanda says. “We were told to expect a kid who wouldn’t sleep, didn’t want to eat and would have extreme colic.”
Connecting with other families like the Ottenheimer’s through the Williams Syndrome Association has helped the McDaniels navigate their son’s health challenges.
Amanda says, “Our biggest struggle in the next months was all the follow up appointments. We saw 12 different specialists because it’s such a spectrum disorder. He’s had countless tests and procedures.”
Now at 2-years-old, Tom is working hard to gain more mobility. Therapy is a constant. But he takes it all in stride. Amid all the challenges, Maya and Tom smile. It’s the special gift of people with Williams Syndrome.
“Once his personality came in he was always sweet and charming,” Andrew says. “As hard as it was, that made it worth it.”
Dr Waggoner explains, “Behaviorally, the children some of them have a characteristic personality. They are very friendly, very social.”
“He wants the entire restaurant when we go out to dinner to interact with him. He can’t walk and he can’t talk, but he gets every adult in the restaurant to come up and interact with him,” says Amanda. “But there is so much more. I want him to be accepted. I want him to have friends.”
“What she has taught me is how can we say that it’s a disorder to be so friendly and so happy?” Jenna says. “I think kids and adults with Williams Syndrome can teach us a lot about accepting others and being friendly and happy and open minded and open hearted, because kids with Williams Syndrome are genetically born that way.”
The joy their children bring is infectious. But the parents WGN spoke with want others to know there is so much more to learn about Williams Syndrome. That’s why they shared their stories – to raise awareness and foster a better understanding of some of the major struggles they face.
You can learn more at https://williams-syndrome.org/
Williams Syndrome Association: 248-244-2229