A mother-of-two has revealed her daughter’s mysterious weight gain was a sign of a rare genetic disorder.
Ciara Keown’s four-year-old daughter Harper began suffering from depression when she started preschool because her clothes and shoes didn’t fit properly.
Despite being ‘very thin’ as a child, Harper lost 30 pounds in just a few months due to her insatiable appetite.
Keown and her husband struggled with their weight from a young age, and her parents thought Harper was following in their footsteps.
“We thought it was our bad habits influencing her,” Keown told the Daily Mail.
The family visited an obesity clinic near their home in Chattanooga, Tennessee, where they received advice on diet and other lifestyle changes, but Harper’s weight continued to increase.
By the time she was 7, she weighed over 100 pounds, twice the weight of an average second grader.
Children pushed her on the playground, called her ‘fat’ and forced her family to kick her out of school. ‘It was closed for that period of time,’ Keown said. ‘No child should have to go through that.’
Harper (left) and Luna Keown were both diagnosed with Bardet-Biedl syndrome (BBS), a rare genetic disorder. This condition leads to an insatiable appetite and uncontrollable weight gain.
Unable to explain her weight gain despite diet and exercise, the clinic suggested Harper undergo genetic testing last year, which revealed she suffered from Bardet-Beadle syndrome (BBS), a rare condition affecting less than 5,000 Americans that causes weight gain and persistent, insatiable hunger.
This condition typically appears early in childhood and progresses over time, affecting nearly every major organ, eventually leading to vision loss, kidney failure, and developmental delays.
Further testing revealed that Harper’s younger sister, Luna, also had BBS, but had not yet shown symptoms, and both parents were carriers of the mutated gene that causes the condition.
‘(The doctor) was really surprised,’ Keown said. “I’ve never heard of this before,” she said.
BBS is caused by mutations in one of at least 24 different genes (most commonly BBS1 and BBS10) that provide instructions for forming cilia, hair-like structures on cells that help transmit sensory information such as light, sound, smell, and taste.
These mutations cause dysfunction in the brain’s melanocortin-4 receptor (MC4R) pathway, which regulates hunger and satiety. Mutations in the receptors can cause the body to be unable to convey feelings of fullness to the brain, making it impossible to control eating.
Like Harper, most patients begin gaining excess weight around age 3 to 5, which often continues into adulthood despite dietary changes and exercise.
Luna also began gaining weight around age 4, going from 30 pounds to 80 pounds in a matter of months. This is more than twice the weight of the average preschool child.
After their diagnosis, the girls were given topiramate (known as Topamax), an anti-seizure drug used off-label for weight loss, and Vyvanse, a stimulant used to treat ADHD and binge eating disorder, to help slow down their hunger pangs.
They also take daily injectable setmelanotide under the brand name Imcivree, which targets the dysfunctional MC4R pathway.
‘It’s a complete game changer,’ Keown told the Daily Mail.
Harper, pictured, weighed 108 pounds at age 7 and endured bullying so much that her family had no choice but to kick her out of school.
Luna (left) and Harper are pictured with their mother Ciara (right) after losing weight with medication and lifestyle changes earlier this year.
With the help of medication, diet and exercise, Harper has lost 30 pounds so far and Luna has lost 10 pounds in the past year.
Since losing weight, Harper has regained the confidence to return to school, where she enjoys spending time with her friends.
Keown said: ‘She is braver now. Although he appears to be trying to stand up on his own now, he won’t stand up on his own in kindergarten.
‘There was nothing wrong with her. She really likes (school).’
Although the girls have lost weight, BBS still affects several major organ systems, so between them they have a team of about 10 specialists. Luna is in the early stages of chronic kidney disease and BBS has attacked Harper’s liver.
In children, kidney disease can cause growth problems, cognitive problems, anemia, and urinary incontinence. If it progresses, a kidney transplant may be needed. Children with liver disease may experience fatigue, nausea, abdominal swelling, jaundice, and itching.
About half of children with liver failure will eventually need a transplant.
‘We live in and around the doctor’s office,’ Keown said.
Both girls have accommodations provided by their school based on their condition, including extra time during testing due to dyslexia, which puts BBS at risk, extra bathroom breaks due to kidney problems, and breaks in PE class.
The Keown family is currently working to spread awareness of BBS and connect with other families across the United States. Harper even helped other children with symptoms find the courage to get their daily Imcivree shots.
Keown is ‘one step at a time’. I was scared at first, but it wasn’t a death sentence, so I try to express my feelings when (other) moms contact me.
‘We really want the girls to get involved in it because they’ve heard about it. I hope they can manage all of this on their own. ‘I hope they can handle this, that they are healthy, that they don’t have to have many doctors, and that they can have regular check-ups every now and then in the future.’
