When Christine Persanis was born 32 years ago, the first word that came to the mind of her parents to describe her was "floppy." Her father, Harry Persanis explained, "she just had no muscle tone, she couldn't move."
Dr. Moris Angulo and Michele Lamerson, Nurse Practitioner, discuss a Prader-Willi case.
Doctors didn't know why the newborn could barely move or even cry. They were even more perplexed when she went from an infant who could hardly eat because she lacked the sucking reflex to a toddler who just could not stop.
"Around the age of three, she started to eat everything," remembered Mr. Persanis. "My wife and I thought, this is wonderful! But we didn't know she had a disorder and shouldn't be feeding her so much. We just didn't know."
It took close to 12 years of endless visits to doctors before Christine was diagnosed with Prader-Willi Syndrome.
Twenty years ago, little was known about Prader-Willi Syndrome (PWS), a rare genetic disorder. Even one decade ago, PWS was an anomaly, yet it affects one in every 10-15,000 births every year in the United States. But, thanks to a team of genetic specialists at Winthrop-University Hospital, PWS is being brought to the forefront, offering patients a place where their differences are only mere obstacles that can be overcome.
What is Prader-Willi Syndrome?
Prader-Willi Syndrome is caused by a sporadic defect in chromosome 15 and is typically characterized by low muscle tone (hypotonia) at birth, short stature, cognitive disabilities, incomplete sexual development, and feelings of insatiability that can lead to excessive eating and life-threatening obesity and behavior problems (often related to food). It is believed that many of these features arise from a dysfunction in the region of the brain known as the hypothalamus, which controls appetite and satiety as well as the release of certain hormones including growth hormone.
Obesity in childhood and adolescence is of main concern and behavior management and modification is important. Because Prader-Willi kids have a low metabolic rate and seemingly unending appetite, the need to limit caloric intake is paramount for staving off obesity and the negative effects on health.
Five-year-old Luis Gonzalez is a classic case of PWS.
Dr. Moris Angulo, a pediatric endocrinologist and genetic specialist who established one of the largest Prader-Willi Syndrome centers in the country at Winthrop, stated that early diagnoses and parental education is key in helping prevent complications from obesity including diabetes, heart disease and respiratory problems.
"Unless food intake is controlled, most children begin rapid weight gain between the ages of two to five years," said Dr. Angulo. "PWS kids have no control over their urges to eat and will eat whatever they can get their hands on if not closely supervised. Also, children with PWS often have behavioral issues, typically associated with their frustrations with food."
Another common characteristic of the syndrome is short stature, affecting 80 to 100 percent of PWS patients. According to Dr. Angulo, clinical studies have demonstrated that PWS children have growth hormone (GH) deficiency, inhibiting their growth potential, especially as they reach puberty. Reports on the use of GH have shown improvement in the growth velocity, muscle mass and strength, and a decrease in overall body fat.
As more information on PWS is gathered, more services are becoming available to help in the management of the disorder and its symptoms. Early intervention including speech and physical therapy has proven to be very helpful in children with cognitive delays and in building and maintaining muscle mass.
Winthrop's Division of Pediatric Endocrinology and Genetics has more than 300 PWS patients in its care and has helped establish three local PWS group homes with trained personnel for the care of adult individuals. Parental and familial support groups, run by the division's genetic counselor, Monika Zak, have also played a key role in the management of the syndrome and the emotional issues that arise in those caring for PWS children and adults. Additionally, pediatric endocrine nurse practitioner, Michele Lamerson, provides personal and compassionate care to patients.
"The most important thing for everyone to remember is that underneath this syndrome is a person," said Dr. Angulo. "At Winthrop, we talk to our patients not only as doctors, nurses or social workers, but as friends."
For more information on the diagnoses or treatment of Prader-Willi Syndrome, call The Division of Endocrinology and Genetics at (516) 663-3090 or 1-866-Winthrop.