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Family resilient in coping with boy's rare disease

Health
WHEN Luke Legemaate was born 11 years ago, his parents knew immediately that something was wrong with their little boy.

“He was floppy, barely moved, never cried, couldn’t suckle or hold his head by any means of the imagination, and the doctor had said that there was some form of brain damage.This was devastating as we had already been through a lot after the birth of our elder son with a congenital heart defect and the consequential surgeries,” recalls his mother Janet.

It would take another two years and eight months before doctors finally diagnosed little Luke.

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Luke and his mother Janet Legemaate. Luke suffers from a rare syndrome called Prader-Willi Syndrome.

His parents, who live in Gillitts in Durban, were told that he had Prader-Willi Syndrome (PWS), a rare genetic disorder that is characterised by the loss of function of specific genes. In newborns, symptoms include weak muscles, poor feeding and slow development.

Because of the malfunction of the hypothalamus, which contains cells that regulate hunger and satiety, children with this condition never feel full and constantly have an urge to eat - a situation that often leads to obesity and Type 2 diabetes.

After having every possible test, including Fluorescence in situ hybridization (FISH) test, which detects genetic abnormalities, which also came back negative, it was time for doctors to explore other avenues. He was finally diagnosed after they tried DNA methylation analysis, the study of chromosomal patterns of DNA.

“Our eldest son had just come out of theatre for surgery to remove a spiral web in his trachea when our paediatrician phoned us to tell us that the genetic tests we had been waiting months for were back, and Luke was positive for PWS. We had taken the stance at Luke’s birth that we would fight to give Luke the best chance of reaching his potential that we could. The initial FISH test was negative, but we were convinced Luke had PWS due to all the literature we had devoured and this is why we eventually asked for the genetic testing to be done,” she said.

According to Dr Engela Honey, a paediatrician at the department of genetics at the University of Pretoria, PWS is relatively rare compared to Down syndrome, for example, and the features in babies are also not as distinctive as Down syndrome. It is therefore often missed.

“The most important reason for the non-diagnosis of PWS is the lack of awareness and the fact that doctors and other medical health professionals don’t know about the syndrome,” she says.

All over the world, researchers work hard to understand the extremely complex nature of this disorder. However valuable these efforts may be, it is the management of the syndrome that is of vital importance.

Not only is early diagnosis vital for PWS sufferers, but Honey stresses that the management of the disease makes all the difference, and those who have PWS need intervention and strict external controls, sometimes including padlocking access to food.

Honey said a multidisciplinary approach, including psychologists, endocrinologists and dietitians, was key to helping parents of PWS children cope.

And this is exactly the route that Luke’s family took after his diagnosis.

After frantically looking for information from PWS societies across the world, which ultimately resulted in the family meeting other parents facing similar challenges, Luke’s family made sure that he got early intervention.

After obtaining information from health care professionals who treat her son, Janet is optimistic that other parents, too, can learn about the benefits of early management of the syndrome, and need to be actively involved.

Today Luke is not the typical PWS child, thanks to various therapies that he’s had as early as two weeks of age, which included brain stimulation, among others.

“We have searched extensively for medical professionals who have some knowledge of PWS and the interest in dealing with it. Luke is doing well generally, which we attribute largely to him being on growth hormone therapy and the consequential positives this gives him. He has surprised us so much in his development and his abilities that we have no idea what the future may bring,” she said.

But she’s disappointed at the lack of information on PWS in South Africa. “Unfortunately the majority of material available on PWS is focused overseas and they have different constraints to us, which often makes it difficult to compare situations. The lack of understanding around PWS in SA makes the emotional support for parents of individuals more difficult.

"Health workers may have heard of PWS in the genetics section of their studies, but most are largely unaware of PWS, the implications for the individual, the impact on the individual, what it takes to keep the individual safe and the impact on the family members or caregivers,” she says.

Senior clinical psychologist, Molelekeng Sethuntsa, adds that caring for a person with PWS can be time-consuming, and physically and emotionally exhausting, which is why it’s important for the caregiver to have adequate support systems.

“The most challenging behaviours observed in people with PWS are stress and change-related temper tantrums, food-seeking, stealing associated with food, stubbornness, manipulation, skin-picking and lying. Some may express all of these behaviours, while others will display only a few. In each case, professional support can help with overall management of PWS, including the improvement of school, social and psychological functioning.”

She advises parents of children with PWS to obtain information from the treating health care professionals so that they can learn more about management of the syndrome.

“It is important to always remember that behind the syndrome, there is a sensitive human being, a person in his or her own right with an individual personality and a complex emotional life, who deserves to be accepted by the community for what he or she is,” Sethuntsa says.

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