Atypical Diagnosis, Atypical Strength

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People don’t know how strong they are until they have to be.

“I’ve been lifting her every day since she was born, so I’ve been growing with her. She’s not heavy to me,” Sherry said.

Sherry is speaking about her 10-year-old daughter, Robyn, who is three feet tall and weighs 45 pounds. When Sherry first lifted her, Robyn weighed only two pounds, 10 ounces. Sherry had gone to the doctor for a routine ultrasound that day, when she learned that she was in labor.

“She was a surprise—two and a half months early. I was planning on going shopping after the doctor’s appointment,” Sherry recalls.

Instead, the doctor performed an emergency C-section. Right away, he noticed that some of Robyn’s features were atypical, with pointed ears and a crooked little finger that didn’t straighten out. Tests verified that she has Williams syndrome, a developmental disorder caused by a missing chromosome 7, which affects many parts of the body. She has chronic health issues that include seizures, high blood pressure, asthma and scoliosis. Her hearing and vision are impaired, and she uses a g-tube for feedings. She also has another rare chromosomal disorder called chromosome 10p deletion.

Williams syndrome affects one in 10,000 people worldwide, Sherry said, and Robyn is the first in the world to have both Williams syndrome and 10p deletion.

“Robyn was three months old when we learned about the missing chromosomes. There was no prenatal testing for this, and it was definitely a shock. When you have a child, you’re expecting the best, expecting to send her off to college,” Sherry said. “Doctors don’t know what to expect from her. But she’s a survivor. She’s a fighter. She’s had 14 surgeries, and she has overcome them all.”

Today, Robyn’s life is very structured. She takes her morning medications and plays in a gated area of the living room. She enjoys listening to jazz and classical music—a trait shared by people with Williams syndrome—and she doesn’t like too much excitement.

“Our day is pretty laid back,” Sherry said. “She catches colds easily because of her immune system, so we don’t leave the house often. She gets home therapy and is home schooled. I try to get her out, maybe once a month, and we’ll go to the Children’s Museum.”

Riley Hospital connected Sherry to CICOA. Through the Medicaid Waiver, Robyn receives nursing care eight hours each weekday. She qualifies for respite care on the weekends also, but Sherry has difficulty staffing those hours.

“I would like to work, but Robyn’s health has been such a rollercoaster, I would have to take off work every other day,” Sherry said.

For now, she is content to stay at home.

“Sometimes I get exhausted, but I’ve learned how to be humble, because Robyn wakes up every day in some kind of pain, and unless it is excruciating, she never complains. So I’ve learned when you get a headache, get over it. It’s just a headache. I think today I’m more compassionate, more resilient.”

When Sherry goes to the grocery story, you can find her pushing a cart with one hand and pulling Robyn in a stroller with the other.

“I wouldn’t know what to do with an extra hand,” she laughs. “I’ve just adapted. Robyn has a great spirit. She’s brought me joy, and made me stronger for it. I can’t see life without her. ”

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