AISHA Azhar has been obese since she was a child but her obesity is not due to an unhealthy lifestyle or poor eating habits as society would want to believe.

The 21-year-old suffers from Prader-Willi Syndrome (PWS) and was diagnosed with this genetic disorder when she was 10 months old.

The sad reality for people with PWS is hyperphagia - a striking symptom of PWS -- which leaves them feeling extremely hungry and wanting to eat constantly due to problems in their ghrelin secretions. (Ghrelin, often called the "hunger hormone", is produced in the gastrointestinal tract.)

If left uncontrolled and untreated, the condition can result in morbid obesity which can potentially lead to life-threatening heart and lung complications, diabetes, high blood pressure (hypertension) and other serious complications.

PWS is also recognised as the leading genetic cause of life-threatening obesity in children and commonly begin between three and eight years of age.

According to geneticists, PWS is caused by the loss of active genetic material on the paternal copy of chromosome 15. Most often, there is some error or defect in paternal genes on chromosome 15, whether the part is missing or deleted in this critical region.

In Malaysia, PWS is classified as a rare disease as its prevalence is about one in 15,000 population. It affects both genders and all races equally and randomly.

According to Prader-Willi Syndrome Association Malaysia (PWSAM) statistics, there are currently about 135 patients with PWS in Malaysia, with 60 of them aged below six; 40 aged between seven and 12; 21 aged between 13 and 17; and 14 aged above 17.



CHALLENGING

Aisha's father Azhar Talib, who is the founder and president of PWSAM and is fully involved in creating more awareness about PWS and enhancing networking among organisations, agencies and professionals involved in providing treatment, training and education to patients, said caring for and raising a child with PWS is challenging.

Since the time Aisha was diagnosed with the disease, Hospital Kuala Lumpur became a second home to him and his wife as they had to bring their daughter there for consultation and therapy sessions with specialist doctors every month.

"Infants with PWS often have low muscle tone (hypotonia). Due to this, they may have poor sucking reflex and are unable to breastfeed and may require special bottles or tube feeding.

"Other than hypotonia, Aisha also exhibited cognitive challenges, which affected her learning abilities. Until now, she cannot speak properly like other people her age. She also has difficulty controlling her emotions and would throw tantrums whenever she doesn't get the food she asks for," he told Bernama when met here recently.

Aisha still needs to see a specialist for follow-up treatment but the visits are not as frequent as they used to be previously.

Azhar said nearly every system in the body is impacted by a PWS diagnosis as it affects the hormones, body composition, temperature regulation, pain tolerance and sleep patterns. Individuals with PWS are also at higher risk for developing mental disorders such as depression, bipolar disorder and psychosis.



EARLY INTERVENTION CAN HELP

Azhar said in view of the challenges of caring for people with PWS, his association is ever ready to extend help and advice to parents and caregivers.

"Caregivers of people with PWS often experience compassion fatigue as they have to take care of their patients every day since they are incapable of taking care of themselves. Caregivers have to bear with this life-long commitment," he said.

Other daily challenges that have to be endured by families and caregivers are lack of awareness on the rare disorder among the public, helping the patients to get regular exercise and getting them to adhere to scheduled meal times and a calorie-restricted diet to manage their weight.

Meanwhile, paediatrician Dr Melissa Anne Nunis said although there is no cure for PWS, early intervention and compliance to therapy can help the affected individuals to learn to be more independent, thus improving their quality of life.

"The approach to treating children with PWS needs to be systematic and coordinated as it involves various specialities which include genetics, paediatrics, orthopaedics, endocrinology, speech therapy, psychology and nutrition," she said, adding that treatment for PWS needs to be tailored to the needs of the patient as each individual may have different issues.

They require early assistance (physical and occupational therapy, special education and speech therapy) to assess and assist with motor skills issues, intellectual disabilities as well as speech and language development.

"All of these services are offered at tertiary government and university teaching hospitals," she added.

Dr Melissa, who is a lecturer at the Faculty of Medicine and Health Sciences, Universiti Putra Malaysia, said treatment programmes for PWS patients should also include a low-calorie diet, regular exercise and strict monitoring of food intake based on the individual's height and body mass index.

"Some families may resort to locking their food cabinets and refrigerators so that food is not easily accessible (to the patients). These initiatives should start well before the onset of obesity. This is because managing the patient's insatiable appetite is the most difficult aspect of the syndrome. Aside from hormone problems, they can also develop obstructive sleep apnoea as obesity progresses," she said.

She added that an endocrinologist also plays a vital role in the management of patients with PWS as they can develop multiple endocrine abnormalities.

The initiation of growth hormone treatment is one of the solutions to treating endocrine abnormalities but this will require consultation with an endocrinologist.

"In multiple studies, growth hormone treatment has been found to be beneficial for those living with PWS, in which it can help to increase height, reduce body fat, increase lean body mass, mobility and respiratory function, and ultimately improve their overall quality of life," she said.

Azhar, meanwhile, said PWSAM hoped that the government would subsidise the cost of the growth hormone treatment required by eligible PWS patients and also improve access to this treatment at government hospitals.

"As of now, it is quite difficult for patients to access the growth hormone treatment at government hospitals as it involves a lengthy process. The treatment is also relatively expensive at around RM2,000 per month or an estimated RM24,000 per year (per person)," he said.

For more information on PWS and PWSAM, please visit www.pwsamalaysia.org.my.

-- BERNAMA