Pushing Past Prader Willi Syndrome
Your eight-year-old daughter is always hungry. It wasn’t always this way. It was difficult feeding her when she was a baby. Now she throws temper tantrums if she thinks she is not getting enough food. She might have Prader-Willi syndrome.
Prader-Willi syndrome is a rare genetic disorder where the person constantly craves food and has only half the metabolism of a typical person. Some that have the disorder have literally eaten themselves to death.
Prader-Willi syndrome is one of the leading causes of obesity. People with this condition always feel hungry. Hunger wakes them up in the middle of the night. Hunger makes them do bizarre things like eat out of trash cans.
The disorder results from a random loss of a gene during conception. It creates an incomplete development of the brain in the hypothalamus region, the portion that tells the heart to beat and controls hunger and fullness. Prader-Willi patients never get the feeling of satisfaction after a meal that most people do.
They will stop at nothing to quell this insatiable hunger: guzzling cooking oil, stealing the dog’s kibble, and yes, even rummaging through garbage. Left unchecked, Prader-Willi syndrome could lead to morbid obesity and death.
Prader-Willi babies are usually weak and unresponsive. They have low muscle tone. Some are born breech. Others have trouble sucking milk and gaining weight.
According to the Cleveland Clinic, the disorder may cause a delay in childhood milestones and puberty. If abnormal weight gain is not managed, it may lead to life-threatening complications such as sleep apnea, diabetes, and heart problems. Prader-Willi syndrome affects between 350,000 to 400,000 people worldwide.
Prader-Willi syndrome occurs when certain sequences of genetic material are missing or not working, specifically, a segment on chromosome 15. The mother and father each pass down one copy of chromosome 15 to their children. In children with Prader-Willi syndrome, their father’s chromosome isn’t working properly. In some cases, children inherit two copies of chromosome 15 from their mother.
Symptoms that are characteristic (and seen in infancy) of Prader-Willi syndrome are a weak cry, unusual facial features (like almond-shaped eyes and a long narrow head), lethargy (tiredness, listlessness), poor feeding ability and weak muscle tone (hypotonia). As a child with Prader-Willi syndrome ages other symptoms begin to crop up like behavioral and emotional problems, intellectual disability, problems with eating (not feeling satisfied after eating, eating a large amount of food), short height with small hands and feet, and underdeveloped genitals.
Your doctor will diagnose Prader-Willi syndrome by conducting a physical exam, reviewing your child’s medical history and ordering blood tests to look for changes in the chromosomes.
Treatment for Prader-Willi syndrome involves the following:
· Recommending certain devices such as special bottle nipples to help infants get enough nutrients
· A low-calorie diet (and learning how to manage food)
· Medication to increase certain amounts of hormones like growth hormone, and testosterone or human chorionic gonadotropin for boys and estrogen for girls
· Therapies such as speech-language therapy, physical therapy and special education.
Individuals with Prader-Willi syndrome can develop obesity from overeating. Complications from obesity include diabetes, hypertension (high blood pressure), respiratory (lung) problems, cardiac (heart) problems and sleep apnea.
Early intervention is key to treating those with Prader-Willi syndrome. With ongoing support, patients can have normal life with some degree of independence. If you suspect a loved one has this condition, speak with a health provider as soon as possible.
