There is no cure for Hurler syndrome. This rare genetic disorder can result in children dying before they turn 10. It's therefore the greatest cause for celebration that, in August 2021, Kylie Victor celebrates her 13th birthday - and 7 years of successfully managing this syndrome.
- Thanks to photographer Carlett Badenhorst for all photographs featured in this article.
Kylie Victor was born on 14 August 2008. In the months that followed, her mom Karen gradually started to notice irregularities in her face, neck, and hearing and later, also in her spine.
"Other than these troubling signs, the first year was beautiful," says Karen, a Gauteng-based 48-year-old behaviour transformation specialist. "Kylie developed normally and she was such an easy and loving baby. She smiled all the time and never had any problems."
A week before Kylie's first birthday, Karen took her for an X-ray to find out why she had a bloated tummy and a pronounced hunch. "The GP looked at the X-ray and I could see dread in his eyes. He made an immediate appointment for us with a neurosurgeon. That was when I became really worried," says Karen.
From there, in a single day Kylie saw a neurosurgeon, a radiologist and a paediatrician. At the end of the day, the paediatrician delivered the news that Kylie had Hurler syndrome.
"That night, I told my husband the news and he cried bitterly. I had no tears, nothing! I suppose it was shock and perhaps denial, feeling like I'd wake up from a bad dream at any moment," recalls Karen.
What is Hurler syndrome?
Hurler syndrome or mucopolysaccharidosis type I is a rare genetic disorder that affects fewer than one in 100 000 children.
"Somewhere in her genes there's a mistake. And, the result of this genetic error means that Kylie's body can't make an enzyme that is needed to break down certain food molecules. As a result, these molecules drift around in her blood and settle in soft body tissues like organs and joints. After a while this causes damage," Karen explains.
There is no cure for Hurler syndrome. The progressive disease starts almost undetectably at first and, in time, the symptoms worsen. If left untreated, children with Hurler syndrome could die before age 10.
It's therefore the greatest cause for celebration that, in August this year, Kylie celebrates her 13th birthday. "We never thought we would have another teenager in the house. It's a huge achievement for Kylie to enter her teenage years, says Karen - keeping in mind that Kylie started enzyme replacement therapy when she was five years old.
"Kylie was very, very sick after her fifth birthday"
When Kylie turned 18 months old, the Victors started seeing genetic counsellors about enzyme and bone marrow transplants. "We found the cost astronomical and the odds of a successful transplant were limited, with a probable death rate of 40%. The odds were so stacked against us that we decide to continue as we had been, until Kylie was about five years old," says Karen.
"Kylie was very sick after her fifth birthday. So sick, that I could see her dying at any time," Karen recalls. That's when ear, nose and throat specialist Dr Duane Mol came into the picture. Determined to help, he attended a session on enzyme therapy for children with Hurler syndrome at a medical conference. He put the family in touch with Eldridge Makamu from pharmaceutical company Genzyme, the company that manufactures Aldurazyme. Eldridge in turn introduced them to Kelly du Plessis from local NGO Rare Diseases South Africa. "They encouraged us to apply to Discovery Health Medical Scheme for funding for enzyme replacement therapy for Kylie," says Karen. More on DHMS membership here.
Enzyme replacement therapy gives Kylie new life
The treatment was approved, and today, the Victors manage Kylie's condition with a laboratory engineered enzyme named Aldurazyme, one of the most expensive types of medicine in the world according to Forbes.
"Sadly, Aldurazyme is unaffordable for at least 99% of families. If one's medical scheme or the government doesn't help, these children live a short life and die a horrible death," Karen says. "That's the reason why we are so extremely grateful for our Discovery Health Medical Scheme cover. Our lovely child was close to death, then she got her enzyme therapy, and now she is a happy and healthy child. Yes, she has difficulties, but her life is worth living."
Kylie had her first enzyme therapy infusion on a Saturday seven years ago in the Netcare Sunninghill Hospital ICU. Karen recalls: "She slept through it all. She was discharged late on the Sunday, still sleeping. When she woke up on Monday, she was a different child. She had more energy than she'd had in years. It wore off after three days, but the same thing happened with the next infusion. By the third session, her energy did not wane after treatment. We went on a short holiday after her third infusion and where, before this session she couldn't tolerate a 20 metre walk, we were delighted to see her walking 500 metres with ease!"
"Kylie rules our household" - Karen Victor, Kylie's mom
Today, the 12-year-old is going strong. "Kylie is a little brat!," jokes her proud mom. "She rules our household. We call her the boss of the house and everyone, including her older brother and sister, jumps when she speaks. She ties us together with a unique bond. Our world revolves around her. She knows she is special and deeply loved. She laughs a lot. She is funny and very social."
"Thanks to our Discovery Health Medical Scheme funding Kylie's Aldurazyme, she is a healthy and happy child. She sleeps well, she has energy to play and run, she eats well and while she is intellectually challenged, I believe she is making progress. She loves going to school. She's doing horse riding as a therapy and loves this. We hear the words 'perdjie ry' (ride horsey) from morning to night," adds Karen.
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