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Living with and overcoming PWS

Simone Callender writes about a rare genetic disorder affecting her daughter known as Prader-Willi Syndrome. World International Prader-Willi Syndrome Awareness Day was marked on Friday, May 27.

I had never heard about Prader-Willi Syndrome (PWS) until February 2014 when my daughter, at the tender age of four, was diagnosed with this rare and complex genetic disorder through Methylation analysis.

Lee-Ann was born on Pentecost day May 31, 2009. Eyebrows rose when I couldn’t fulfil my motherly function of breastfeeding as Lee-Ann was unable to latch. The bond that is formed between a mother and child during that act was never experienced.

She became an outpatient to the neonatal clinic for a few weeks for observation purposes before being released. She had a weak cry which caused a problem especially at night to know when she was hungry. As such, I did away with the crib and allowed her to sleep with me on the bed.

Lee-Ann was just like any typical child at three months old, playing with her rattle, holding newspapers, and mimicking her grandfather. Somehow everything stopped and we were scrambling for answers.

On one side, it was a relief to finally know what she had, but on another it was scary to contemplate providing for all her needs.

I did extensive research on the syndrome and found that they suffer from an insatiable appetite! Can you imagine never feeling full or satisfied after having a meal?

Imagine you have the capability to eat yourself to death at every meal if ever left unsupervised around food? Eating to the point of rupturing your stomach? Childhood obesity, seeking food from everywhere, even the trash.

And PWS has no cure.

I questioned God for days – “Why me, why did God make my child this way? How can I help her live a normal life?” Then I remembered: “God never gives you more than you can bear”, and I should be honoured that I was chosen to be the caretaker of one of His special angels.

In search of learning from others, I came across a support group for parents and caregivers with children and adults who suffer with PWS on Facebook. The timing couldn’t have been better. God works in mysterious ways. I learned a lot and continue to learn from those parents.

Over the years, Lee-Ann had suffered from many ailments associated with PWS such as floppiness as a baby, short stature, small hands, and feet, squinting of the eyes, speech-language, and motor developmental delay with mild to moderate learning difficulties. Snoring/breathing problems at night while asleep, leading to periods where breathing stops for a few seconds called sleep apnea.

Childhood development obesity due to excess fat and poor muscle development, behavioural problems with temper tantrums, skin-picking and stubbornness and pre-diabetes mellitus which was assisted by the drug metformin for roughly two-three months.

One by one we overcame the hurdles as they came, and she began, and continues, to thrive.

As this Syndrome has not been discussed as publicly as Autism, it was hard to know what benefits Lee-Ann can get through the health care profession in our country.

I learned from the PWS Association of the United Kingdom that growth hormone (GH) therapy is the only thing recommended for growth failure in children with Prader-Willi Syndrome. This treatment we were grateful to access through her endocrinologist at the Eric Williams Medical Science Complex Endocrinology outpatient clinic.

We have seen her health improve by leaps and bounds. She now has increased energy, her respiratory function has improved tremendously, she no longer snores nor has sleep-apnea. Her strength and independence in everyday tasks, such as climbing stairs and grooming herself, which may seem like small feats to many, is a monumental achievement.

Although her development had been slow, we are continuously making progress. I always believed that my daughter would have a bright future therefore I never denied her from being involved in activities such as dance, Zumba, vocal training, and occasional modelling at church events. She made her First Communion and is now enrolled in Confirmation classes.

We live by the motto that “although she has Prader-Willi Syndrome, Prader-Willi Syndrome does not define the person she is nor the person she can become”.

 

What is PWS?

Prader-Willi syndrome (PWS) is a rare genetic condition that affects a child’s metabolism and causes changes in the child’s appearance and behaviour. It is marked by a low muscle tone and poor feeding during early infancy, followed by tremendous appetite after age 2-3 years, which leads to the child becoming overweight. It may also cause a delay in childhood milestones and puberty.

If abnormal weight gain is not controlled, it may lead to life-threatening complications such as sleep apnea, diabetes and heart problems.

Many physical symptoms of PWS arise from poor regulation of various hormones, including growth hormone, thyroid hormone, and possibly adrenalin.

Individuals with PWS grow slowly and experience delays in reaching physical activity milestones (e.g., standing, walking).

Children with PWS tend to be substantially shorter than other children of similar age. They may have small hands and feet and a curvature of the back, called scoliosis.

In addition, they frequently have difficulty making their eyes work together to focus, a condition called strabismus.

 

(Source: US Eunice Kennedy Shriver National Institute of Child Health and Human Development – nichd.nih.gov/)





 

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