prader willi syndrome

At last year's Music for Mickey benefit concert, country duo Hometown News asked the guest of honor, Mickey Phernetton, if she had a favorite song they could play.

With the whole audience watching, the little girl excitedly told them "Jumping Over Fences."


for web ERIN McCRACKEN / Courier & Press Ron Kingery, a member of the band "Hometown news" gives his friend Mickey Phernetton a hug as he says hello to her and Jamie Schaefer, backstage before the fourth annual Music for Mickey concert at North High School on Saturday. The concert was a benefit to raise money and awareness for Mickey who has Prader Willi Syndrome, a rare genetic disorder that leaves her constantly hungry. Kingery has been a longtime friend of the Phernettons and traveled from Nashville to perform. Schaefer is a member of the Reitz High School Cheerleading squad which made Mickey an honorary member after Mickey's father, Evansville Police Officer, Patrick Phernetton, who is the Reitz High school police resource officer talked to the student council about Mickey's condition. "When Officer Phernetton spoke about Mickey, I cried. We invited her to a cheerleading clinic last year and gave her a uniform so she can come to home games and cheer with us," Schaefer said. "I am graduating next year and am really going to miss her."

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It was a tune from Hometown News' second CD that was easily her favorite. It also just happened to be one the band hadn't prepared.

So this year, at the fourth annual Music for Mickey benefit concert, the duo came ready to deliver.

"We decided we better learn that one," Hometown News' Ron Kingery said.

"We came ready tonight."

Sure enough, a few songs into the duo's set, Kingery related that story and dedicated the song to a wide-eyed, grinning 10-year-old girl who had spent the night dancing in the front row.

Mickey was born with Prader-Willi Syndrome, a rare genetic disorder that leaves her constantly hungry. The annual concert, organized by her parents, Patrick and Lisa Phernetton, raises money for research and a long-term effort to one day build a group home for Prader-Willi sufferers in the Evansville area.

But it's also a time to raise awareness of the rare condition and to give Mickey a day all her own.

"It's a special feeling when this day finally comes," Patrick Phernetton said. "It's a special day for Mickey."

In addition to the music, it is one of the rare days when Mickey is allowed to drift from a strict, 1,200-calorie-a-day diet.

So between the concert and the food, it's something she looks forward to all year long.

"I'm having a concert," she said minutes before it started, her smile ear-to-ear, "and I get to eat out two times."

This year's event, held at North High School's auditorium, also featured country artist Lila McCann and local gospel singer Jarrod Haase.

Hometown News, which in 2003 was nominated for an Academy of Country Music top vocal duo award, returned for a third year. Its members ― Kingery and Scott Whitehead ― said the event has become important to them, especially after meeting Mickey and building a strong relationship with her family.

"We love Mickey," Kingery said. "We just kind of adopted her as our own. ... (The Phernettons) come to quite a few shows and you can always bet if they're in the crowd, Mickey will be there in the front row just dancing her heart out. She's a lot of fun."

Such was the case Saturday. Seated beside her family front and center, Mickey rarely sat down from the moment Haase stepped on stage until the end of the show.

More than 200 people attended the concert, raising about $3,000 between ticket sales, CDs, posters and Music for Mickey T-shirts, which were created and sold by Reitz High School students.

Patrick Phernetton is an officer on the Evansville Police Department who is assigned to Reitz High School. When the students there met Mickey and learned about the concert, they were eager to help.

Haley McKinney, 16 and a sophomore at Reitz, designed and helped sell the purple T-shirts, which read "Oh Mickey ... You Blow My Mind" split between the front and back. Most of the crew wore them and so did McCann during her set.

McKinney said the students were pleased to help the cause.

"Mickey's just an awesome girl," she said. "She's just amazing. She's really sweet. If you would see her, you just automatically fall in love with her."

That's what happened to Kingery, who already promised the Phernettons that Hometown News will return for next year's concert, as did McCann.

He said it's an easy decision considering how important the cause is.

"You put yourselves in their shoes and have a feeling for what they're trying to do with Mickey for her future and for kids who have Prader-Willi Syndrome," Kingery said.

"It's just an effortless thing for us. We just want to help and love to see them progress."

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LANSING, Mich. -- Firefighters cut a hole in the side of a house and used a forklift to extricate a 900-pound, 33-year-old man from his second-floor bedroom after a nurse became worried.

The man's brother said he suffers from Prader-Willi Syndrome, a rare genetic disorder that creates a chronic hunger feeling.


Severe obesity and obesity-related problems arei the major medical problem associated with Prader-Willi syndrome.

Who has Prader-Willi syndrome (PWS)?

Anyone can be born with Prader-Willi syndrome (PWS). Some individuals may have acquired PWS due to brain trauma.

What is Prader-Willi syndrome?

Prader-Willi syndrome is a complex genetic disorder affecting appetite, growth, metabolism, cognitive function and behavior. It is typically characterized by low muscle tone, short stature, incomplete sexual development, cognitive disabilities, problem behaviors, and the hallmark characteristics - involuntary and uncontrollable chronic feelings of hunger and a slowed metabolism that can lead to excessive eating and life-threatening obesity.

Those who have Prader-Willi syndrome need intervention and strict external controls, including padlocking access to food, to maintain normal weight and to help save their lives.

When does Prader-Willi syndrome occur?

It is estimated that one in 12,000 to 15,000 people has PWS. Although considered a "rare" disorder, PWS is one of the most common conditions seen in genetics clinics and is the most common genetic cause of obesity that has been identified.

Where is Prader-Willi syndrome found?

PWS is found in people of both sexes and all races worldwide.

Why does Prader-Willi syndrome occur?

Most cases of PWS are attributed to a spontaneous genetic error that occurs at or near the time of conception for unknown reasons. In a very small percentage of cases (2 percent or less), a genetic mutation that does not affect the parent is passed on to the child, and in these families more than one child may be affected. A PWS-like disorder can also be acquired after birth if the hypothalamus portion of the brain is damaged through injury or surgery.

How does Prader-Willi syndrome work?

Basically, the occurrence of PWS is due to lack of several genes on one of an individual's two chromosome 15s―the one normally contributed by the father. In the majority of cases, there is a deletion―the critical genes are somehow lost from the chromosome. In most of the remaining cases, the entire chromosome from the father is missing and there are instead two chromosome 15s from the mother (uniparental disomy). The critical paternal genes lacking in people with PWS have a role in the regulation of appetite. This is an area of active research in a number of laboratories around the world, since understanding this defect may be very helpful not only to those with PWS but to understanding obesity in otherwise normal people.

People with PWS have a flaw in the hypothalamus part of their brain, which normally registers feelings of hunger and satiety. While the problem is not yet fully understood, it is apparent that people with this flaw never feel full; they have a continuous urge to eat that they cannot learn to control. To compound this problem, people with PWS need less food than their peers without the syndrome because their bodies have less muscle and tend to burn fewer calories.

Who to contact for more information:

Contact the Prader-Willi Syndrome Association (USA) (PWSA (USA)) at (800) 926-4797 toll-free in the US or (941) 312-0400 or visit their website at www.pwsausa.org PWSA (USA), a 501(c)(3) organization, is the only national membership organization that is dedicated to improving the lives of all persons afflicted with Prader-Willi syndrome and supporting them at every stage of life through research, education, support and advocacy. Headquartered in Sarasota, FL, it was formed in 1975 to provide a vehicle of communication for parents, professionals, and other interested citizens. Hospitals, physicians, and parents from all over the world consult with PWSA (USA) with medical emergencies and questions daily.

PWS is caused by the deletion of the paternal copies of the imprinted SNRPN gene and necdin gene on chromosome 15 located in the region 15q11-13 [2]. This so-called PWS/AS region may be lost by one of several genetic mechanisms which, in the majority of instances occurs through chance mutation. Other less common mechanisms include; uniparental disomy, sporadic mutations, chromosome translocations, and gene deletions. Due to imprinting, the maternally inherited copies of these genes are virtually silent, only the paternal copies of the genes are expressed. PWS results from the loss of paternal copies of this region. Deletion of the same region on the maternal chromosome causes Angelman syndrome (AS). PWS and AS represent the first reported instances of imprinting disorders in humans.

The risk to the sibling of an affected child of having PWS depends upon the genetic mechanism which caused the disorder. The risk to siblings is <1% if the affected child has a gene deletion or uniparental disomy, up to 50% if the affected child has a mutation of the imprinting control region, and up to 25% if a parental chromosomal translocation is present. Prenatal testing is possible for any of the known genetic mechanisms.


[edit] Neuro-cognitive
Individuals with PWS are at risk of learning and attention difficulties. Curfs and Frym (1992) conducted research into the varying degrees of learning disability found in Prader Willi Syndrome (PWS).[3] Their results were as follows:

5%...IQ above 85 (Average to low average intelligence)
27%..IQ 70 - 85 (Borderline intellectual functioning)
34%..IQ 50 - 70 (Mild intellectual disability)
27%..IQ 35 - 50 (Moderate intellectual disability)
5%...IQ 20 - 35 (Severe intellectual disability)
<1%..IQ <20 (Profound intellectual disability)
Cassidy found that 40% of individuals with PWS have borderline/low average intelligence,[4] a figure higher than that found in Curfs and Frym's study (32%).[3] However, both studies suggest that most individuals (50 - 65%) fall within the the mild/borderline/low average intelligence range.

Children with PWS show an unusual cognitive profile. They are often strong in visual organisation and perception, including reading and vocabulary, but their spoken language (sometimes affected by hypernasality) is generally poorer than their comprehension. A marked skill in completing jigsaw puzzles has been noted.[5][6]

Auditory information processing and sequential processing are relatively poor, as are arithmetic and writing skills, visual and auditory short term memory and auditory attention span. These sometimes improve with age, but deficits in these areas remain throughout adulthood.[5]


[edit] Behavioral
Prader-Willi Syndrome is also frequently associated with an extreme and insatiable appetite, often resulting in morbid, and in some cases life-threatening, obesity. There is currently no consensus as to the cause for this particular symptom, although genetic abnormalities in chromosome 15 disrupt the normal functioning of the hypothalamus (Cassidy, 1997). Given that the hypothalamus regulates many basic processes, including appetite, there may well be a link. However, no organic defect of the hypothalamus has been discovered on post mortem investigation.[4]


[edit] Endocrine
There are several aspects of PWS that support the concept of growth hormone deficiency in individuals with PWS. Specifically, individuals with PWS have short stature, are obese with abnormal body composition, have reduced fat free mass (FFM), have reduced LBM and total energy expenditure, and have decreased bone density.

PWS is characterized by hypogonadism. This is manifested as undescended testes in males and benign premature adrenarche in females. Testes may descend with time or can be managed with surgery or testosterone replacement. Adrenarche may be treated with hormone replacement therapy.


[edit] Treatment
Prader-Willi Syndrome has no cure. However, several treatments are in place to lessen the condition's symptoms. Growth hormone replacement therapy improves body composition and increases linear height. During infancy, subjects should undergo therapies to improve muscle tone. Speech and occupational therapy are also indicated. During the school years, children benefit from a highly structured learning environment as well as extra help. Throughout their lives, the subject's food should literally be kept under lock and key, since the largest problem associated with the syndrome is severe obesity.