After giving birth to three strapping sons, Rosalie Christini was thrilled when she finally had a daughter.
The Cambridge mum and her husband Ian Transom welcomed their long-awaited baby girl Estelle into the world three years ago, and while their daughter had a distinctive birthmark covering 90% of her face and half of her body, nothing else seemed amiss.
But not long after, an MRI scan revealed she had a rare neurological condition called Sturge-Weber syndrome, which is characterised by port-wine stain birthmarks and damaging brain seizures.The syndrome also causes glaucoma, an eye disease that, if left untreated, damages the optic nerve, causing blindness.
At just 13 days old, Estelle underwent an operation to stop her losing her sight.
After the euphoria of Estelle’s birth, Rosalie – also mum to Ronan, 11, Lachlan, nine, and Conrad, six – was devastated by her daughter’s diagnosis.
“I was an absolute mess,” confides Rosalie, 45. “It’s something you never expect to hear about your own child. It was traumatic.”
Physically and mentally delayed, Estelle struggled to hit basic milestones such as smiling and rolling, and then, at just over five months old, Rosalie’s baby girl seemed unsettled, with her leg moving strangely up and down.
Rosalie and Ian with (from left) Ronan, Estelle, Lachlan and Conrad.
The worried mum rushed Estelle to hospital, where doctors confirmed it was a brain seizure. It took medical staff an agonising 12 hours to bring it under control.
“It was petrifying,” confides Rosalie. “If she had been in bed asleep when it happened, we wouldn’t have seen it and I don’t know what would have happened.”
In the wake of the seizure, Estelle suffered left-side weakness and for the next two years, her life followed a heartbreakingly regular pattern of seizures every six weeks to three months, each one setting her back in her physical and mental development.
Then, last July, she suffered a huge seizure that took four days to control. Medics believe she may have had a stroke because her left side became limp. Her medication was increased and, thankfully, since then, she has been seizure-free.
Relieved but never daring to believe that the seizures are gone for good, Rosalie says Estelle’s doctors have been impressed with her progress.
“We were told she would never walk or talk because the brain damage was so great, but she started walking at 26 months,” tells Rosalie.
“Her speech is delayed, but we can understand a lot of what she is trying to verbalise. The hospital is amazed with how well she is doing.”
Estelle’s condition is so rare, there is no New Zealand support group. But family and friends have acted as a pillar of strength. And despite her challenges, Rosalie says Estelle is “a happy, loving little girl” who enjoys day care and hanging out with her older brothers.
Now, praying their baby girl can look forward to some semblance of a normal life, Rosalie and Ian hope to reduce the effects of the blemishes on Estelle’s face, which doctors say will become much darker over time.
“Without the treatment, people end up with a deformed face, which can become thick and lumpy, and not nice to look at,” explains Rosalie.
Their best hope is to put Estelle through a series of laser treatments at the financially crippling cost of $4000 per session. Rosalie says the Government will fund four treatments, but Estelle needs 20 before the age of five and up to 50 during her lifetime in order to lighten the potentially disfiguring facial markings.
So far, Estelle’s family has managed to raise just a fraction of the total cost of $200,000.
Rosalie is working on a number of fundraising initiatives, including a toy fair, and has also started a Givealittle page called “help4estelle” in the hope that New Zealanders will donate to her daughter’s cause. “It would be great if the good old Kiwi public could help their fellow man,” says Rosalie.
“I would like Estelle to feel like she could fit in with other kids without people staring at her.
“If I could wave a magic wand, my hope for Estelle is to go to a normal school, to be able to read and write, to be independent and to one day get a job. If she could do that, we’d be ecstatic.”
