Alberton family won’t be put down by rare disease

It is not unusual for parents to do anything to ensure the safety and well-being of their children. Liézel Els, single mother of Lia and Nélius, twins from Brackendowns, certainly agrees.

After her fourth in vitro fertilisation (IVF), Liezel became pregnant with twins.

“Two blessings in one,” she said.

She was devastated to learn that her daughter, Lia, suffered from lissencephaly-pachygyria.

“Around 24 weeks, her brain stopped developing in my tummy. One out of 100 000 babies is born with the condition. It means smooth brain, is a rare, gene-linked brain malformation characterised by the absence of normal convolutions (folds) in the cerebral cortex and an abnormally small head (microcephaly),” Liézel explained.

Diagnosing lissencephaly-pachygyria

Doctors delivered Liézel the shocking diagnosis about Lia on June 29 at 17:15, changing the Els family’s lives forever.

“We noticed that Lia was falling behind with her milestones, but I thought she needed a little bit more time than her twin brother. Only after a seizure one Sunday evening, we realised something was wrong.

“Milestones are something we all want to reach whether in life or your career. That word’s meaning has completely changed for my family and me.”

Magnetic resonance imaging (MRI) confirmed the seizures.

Liézel said she would never forget the paediatrician’s words ‘I don’t have good news for you’.

“I was sitting opposite her, alone with my heart beating outside my chest.”

“Lia’s brain stopped developing before she was born and children with this disorder usually won’t live longer than 10 years.”

Liézel said she felt her world was crashing down again.

“My best friend and my brother Corné passed away in 2018 and that is why I use the word ‘again’. He died in my arms four years ago,” said Liézel.

The next step

Liézel had to find a paediatric neurologist which was a challenge as most of them were fully booked until the end of November.

“When you hear that as a parent, it feels like you can’t breathe, because you can’t do anything about it.”

Through the paediatrician who helped deliver the twins on October 18 in 2021, Liezel managed to get an appointment with a doctor in Morningside.

She admitted Lia and did one electroencephalogram (EEG) after the other. At this stage, Lia was like a little zombie and hated people touching her.

“The EEG had to stay on for 17 hours as medical aids don’t normally pay. Her EEG report showed that she was having constant seizures while she slept, even though you couldn’t see it. We got discharged with some medication, almost like the doctor didn’t know what else to do,” Liézel explained.

An angel sent from above

Through a friend, Liézel managed to get an appointment with Dr Greg Lamb in Pretoria. There were over 500 patients on the waiting list, but when he heard about Lia, he wanted to see her, as her condition is so rare.

On August 22, Liézel and Lia visited Dr Lamb for the first time.

“He sent us for a 45-minute EEG. She fell asleep and they could see the seizures during her sleep.”

That is what doctors call a high-integrity pressure protection system (HIPPS) or West Syndrome. She had so much noise in her little brain. It couldn’t process anything else. That’s why she stopped learning.

“Even though the back part of her brain didn’t develop, the brain has an amazing way of creating new paths.”

Dr Lamb changed her treatment plan. Three weeks later Lia went for another EEG and by some miracle, her EEG showed that the seizures had stopped completely.

“No more HIPPS. Dr Lamb was as surprised as we were.”

Liézel said since then it is like little Lia had woken up from a very long sleep.

“She recognises me. She laughs and smiles when I say her name and is alert and happy, kicking and laughing,” said Liézel.

Finally, Lia was able to start occupational therapy and her therapist is very optimistic that she will be able to hold toys and learn to sit soon.

“Most of all, Dr Lamb told us to forget about what the first doctor had to say. There was no reason for her to die and she could live a long and happy life.”

On November 16, Liézel and Lia visited Dr Lamb again to do an EEG. “He is so happy with all of her results and still there is no sign of HIPPS.”

A financial worry

As a single mother of twins Liézel is doing everything in her power to care for her babies, but due to her medical condition and her medical aid not paying for everything her list of medical bills keeps piling up.

She then decided to share Lia’s story and create a BackaBuddy page.

“I am completely blown away by the support so far,” she said.

Lia, the baby girl with the most beautiful eyes and long lashes are doing well.

Liézel said that she is taking it day by day.

“When she was diagnosed, I almost felt like I didn’t want to bond with her if she was going to die. But now, we have become so close and our love for each other is as wide as the universe.”

They still have a very long way to go, but Liézel remains hopeful.

“There are still lots of EEGs, lots of visits to Dr Lamb and her occupational therapist. Later we need to start with physio and then speech therapists. But I can see a tomorrow with Lia and Nélius and that’s all that matters.”
“Milestones. We’ll get there.”

If you want to donate to Lia’s campaign, click HERE.