11Q Chromosome Deletion: Londyn's Story
Follow your instincts! How one mother saved her daughter by listening to her gut
After three visits with three different doctors, even her husband thought Karla Gwinn was being irrational.
“He said, ‘How many times do people have to tell you she's OK?’ I told him, ‘Until I believe it.’”
The couple’s daughter, Londyn, was born in 2015, and even before the family left the hospital, Karla knew something wasn’t right. After a few weeks at home, she was more certain: Londyn just didn’t sound right.
Her vigilance likely saved her daughter’s life.
The thumbs-up from three different otolaryngologists couldn’t deter a very powerful maternal instinct, she said, so the next stop was Children’s Mercy Kansas City for a fourth opinion.
“I knew there was something going on,” she said. “And the doctor actually listened to me like a human — instead of like a new mom just going crazy.”
The diagnosis was a submucous cleft palate, which is when the muscles within the soft palate don’t fuse properly. Occurring in about one in every 1,200 children, the condition is thought to be caused by genetic and/or environmental factors. Additional genetic testing revealed Londyn had what’s known as a 11Q chromosome deletion — a rare abnormality when genetic material is missing from the long arm of the body’s chromosome 11.
While Karla admits the diagnosis validated her concerns, it also left her with a lot of questions.
“We didn't really know what to expect,” she said.
Londyn’s rare diagnosis has led to seven surgeries (the most recent one this year ahead of her 8th birthday), including surgeries on her cleft palate, one to repair a hole in her heart, one to place a feeding tube, and one when she was only 18 months old to remove her tonsils and adenoids, which had grown so large they were preventing her from breathing properly. It was that surgery, Karla said, that made a monumental difference for Londyn.
“The day after that surgery, it was like she was a totally different person,” she said. “They didn't know if she would walk, if she would talk, if she would eat on her own. And after the surgery, it was like she became a little girl.”
While the doctors predict Londyn will always struggle with speech limitations and issues with her motor skills, the second grader is enjoying school and her dance classes, loves art and singing and really doesn’t know a stranger, Karla said.
“She’ll say hi to everybody, and I'm afraid somebody's going to take her! She will run up and hug people, and is just the friendliest little girl.”
That outgoing personality has also endeared her to the Children’s Mercy team during her frequent visits.
“She gets attention anywhere she goes because she has long, red hair,” Karla laughed. “So, she's very popular!”
Looking ahead to the rest of the year, Karla just hopes for continued progress, both on the health front and on the developmental front. “Our goal is to get her to read like a typical 7- or 8-year-old.” Karla is thankful she found a specialist who could properly address Londyn’s health. She remains impressed by the entire team at Children’s Mercy.
“Every time we go in and meet a doctor, I feel like they know what's going on with Londyn,” she said. “I feel like if I have a concern, they'll listen to me and not think I'm just a mom whose kid is sick.”
Of course, it was the initial nagging feeling that something wasn’t right that allowed Londyn to get the help she needed in the first place — an instinct Karla is thankful for and credits with her daughter’s survival. She tells other parents that while Londyn’s diagnosis may be rare, even common concerns deserve to be investigated. If you think something is off, a better-safe-than-sorry approach may prove to be critical.
“If you think there's something wrong, you know better than anyone else,” she said. “If you think there's something wrong, don't stop. Because if we had stopped, she probably would've died in her sleep one day.”