BOBIE-LEE DIXON
(bobie-lee.dixon@guardian.co.tt)
At nine years old today, Lee-Ann Simpson is a level two dancer, recently promoted at the Candice Clarke Academy of Dance.
She is a fun loving, big-hearted girl who enjoys swimming and dance. Her aspiration is to become a model one day. Needless to say, her mother Simone Callender is often playing the audience at a fashion show where Simpson is in a starring role. This is all exciting stuff for Callender, who at one time believed her only child would not have been able to have a 'normal' life.
Lee-Ann Simpson would have appeared to be a healthy baby, progressing well, until she hit three-months-old and Callender noticed something was wrong. Her beautiful baby girl would just come to a sudden halt in her movements.
“The usual rolling and movements they make at this stage, she just stopped doing them,” she says.
Admitting that at birth she noticed her bundle of joy was born with floppy toes and had difficulty grasping the nipple during a breastfeed, even so, she had not the clue they were as a result of a rare genetic and incurable disorder called Prader-Willi Syndrome (PWS), which she would subsequently find out, after an official diagnosis, made in 2013.
PWS is a genetic disorder that typically causes low muscle tone, short stature, incomplete sexual development, cognitive disabilities, problem behaviours and a chronic feeling of hunger that can lead to life-threatening obesity. The condition is named after Andrea Prader, Heinrich Willi, and Alexis Labhart who described it in detail in 1956. An earlier description occurred in 1887 by British physician John Langdon Down.
“After her father and I noticed the vast changes in her movement, we decided to seek the advice of a specialist. He advised us to begin physiotherapy,” Callendar says.
Prior, the doctor also ran a string of tests, including an MRI and CT Scan to ensure Lee-Ann's spine was appropriately connected to her lower back and there were no abnormalities in brain activity.
The physiotherapy helped to a degree, but for the most part, Lee-Ann's progression remained in an unsatisfactory state.
Wanting to take every step to improve her daughter's physical development, and to perhaps get answers as to why her daughter was not growing properly, in 2010, on the advice of her sister, a midwife, Callender took a 14-month-old Lee-Ann to another specialist in the UK. He would screen Lee-Ann for thyroid function, diabetes, and a fishbone test was also done to ascertain the possible root cause of her physical underdevelopment. However, a definite conclusion on Lee-Ann's condition seemed elusive.
A frustrated Callender took her daughter back to Trinidad. With time passing, Lee-Ann's developmental challenges increased. Not only was she not growing in height, but her hands and feet were below average size for her age; there was constant squinting of the eyes. a delay in her speech, language and motor skills development with mild to moderate learning difficulties. She also developed sleep apnea—a sleep disorder which causes breathing problems during sleep and even stops it momentarily. Lee-Ann also suffered childhood obesity as a result of the genetic disorder.
Callender, 37, explained that apart from it causing the inability to chew food properly, the disorder obstructs the signal coming from the brain to the stomach, informing it that it's full.
This signal comes from the pea-sized organ called the pituitary gland found at the base of the brain. Though tiny, it is the body's master gland, responsible for producing many hormones that travel throughout the body. Among them is the growth hormone (GH), which stimulates growth in childhood and is important for maintaining a healthy body composition and well-being in adults. In adults, GH is important for maintaining muscle mass and bone mass. It also affects fat distribution in the body. GH is not active in Lee-Ann's body hence her development challenges.
The diagnosis
The results of a 2013 blood chromosome study done on Lee-Ann read, “The finding is consistent with a diagnosis of either Prader-Willi Syndrome or Angelman Syndrome." The diagnosis was confirmed one year later in 2014, via a DNA methylation study for PWS. It concluded: “PWS is caused by lack of paternal expression of imprinted genes on chromosome 15 Q11-13, and may be due to a de novo paternal deletion of the region.”
Essentially this meant the occurrence of PWS in Lee-Ann was due to missing genes on the paternal chromosome 15. Most cases of PWS are attributed to a spontaneous genetic error that occurs for unknown reasons at or near the time of conception. About 74 per cent of cases occurs when part of the father's chromosome 15 is deleted. In another 25 per cent of cases, the person has two copies of chromosome 15 from their mother and none from their father.
It is estimated by the American Prader-Willi Syndrome Association, one in 12,000-15,000 people has PWS. It reveals 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 to date.
Taking it in stride
Finally finding out what her daughter's problem was relieving on one hand but troubling on the next for Callender.
“As a mother, it was painful watching my first and only child go through such a
challenge. The Internet became my saving ground as I've done numerous research on this syndrome,” Callender says.
But she has also had to deal with the negative stares and at times cruel comments made by random people whenever she would take Lee-Ann out in public.
She recalled a woman describing her as “wicked” and blaming her for Lee-Ann's size. “It was around Carnival time and we took her out and this woman just looked at me and called me “wicked,” saying I had no right to have my child fat like that. She followed me all the way to my car saying derogatory things,” Callender says.
Describing it as painful, Callender said the people who are staring and making comments don't even know that it's a disorder Lee-Ann has that makes her gain weight, rather than ask a question, they are quick to judge without knowing the story.
But Callender believes despite the negative few, many angels have been sent her way to encourage her and Lee-Ann on this journey. She thanks Candace Clarke, whom she says never treated Lee-Ann any different from any of her other dance students, and has remained a pillar in the building of Lee-Ann's self-esteem and confidence.
“When I contacted Ms Clarke in 2014, I requested individual classes for Lee-Ann because I did not want her to feel out of place as she was still having balancing issues, but she said no to that request and insisted she attend the normal class sessions as children learn from others. Ms Clarke was a Godsend, and by extension all the parents, who made us feel welcomed and embraced us as a family,” Callender says.
Brighter days
The administering of growth hormone therapy (GH), which Lee-Ann, a patient at the Eric Williams Medical Science Complex Endocrinology outpatient clinic, has to take for the rest of her life, has improved life for the 'livewire' so much. Callender boasts of her daughter's growth, going from measuring a mere 114 cm in 2017 to standing tall now at 127cm.
Additionally, Lee-Ann's respiratory function has greatly improved due to the strengthening of her respiratory muscles. She is now able to play longer with her friends without getting out of breath. But what has impressed Callender most is Lee-Ann's new muscle strength and abilities which have allowed her to enjoy and improve on her favourite hobbies like swimming and dancing. Not to mention she is a Zumba lover and spends time with Zumba instructors Nadia Lorick and Andy Josiah, getting in on her cardio.
Callender came to learn of GH during her research on the syndrome. She said she was happy doctors recommended the groundbreaking treatment because without it, even following at best the instructions regarding Simpson's strict diet, her body mass was steadily increasing, placing a great deal of strain on her vital organs. With the therapy, Callender discloses, Lee-Ann now has increased energy and is no longer lethargic.
“Her strength and independence in everyday tasks, such as climbing stairs and grooming herself, may seem like small feats to many, but as the parent of a child with PWS it is a monumental achievement,” Callendar says.
She is now on a drive to bring about awareness of PWS in T&T and is hoping to soon start an association to push that awareness.
What is GH therapy?
GH therapy refers to the use of growth hormone (GH) as a prescription medication-it is one form of hormone therapy. Growth hormone is a peptide hormone secreted by the pituitary gland that stimulates growth and cell reproduction. In the past, growth hormone was extracted from human pituitary glands. GH is now produced by recombinant DNA technology and is prescribed for a variety of reasons as I have learned from the PWS Association of the United Kingdom that the growth hormone (GH) therapy, is recommended for growth failure in children which Prader-willi syndrome and this is supported by the National Institute of Health & Clinical Excellence (NICE).