Girl with Sandoff disease has love
A YEAR ago she was dying, but a world-first experimental treatment has turned little Artemissia into our miracle baby.
Artemissia had barely turned one when she was struck by a rare genetic disorder that began destroying her brain.
Children with the illness, called Sandhoff disease, were not expected live past their third birthday and nobody believed there was any hope for the little girl.
Today the disorder’s progress has been stopped and Artemissia has started the long, slow climb back thanks to the extraordinary efforts of her parents, Alex and Kelly, her grandmother, Colleen, and the help of volunteers and neighbours around their Burringbar home.
When we first reported on Artemissia’s plight last Christmas, her family had just brought her home and had become experts in palliative care as they tried to make her comfortable in the days, weeks or months before her illness killed her.
But Alex – who asked for the family’s surname not be used – despite having no medical training, was also fast becoming one of Australia’s top experts on Sandhoff disease.
Within a few months of Artemissia falling ill he had made contact with US experts who had been working on ways to fight the disease since it was discovered.
Early this year Alex came across an experimental treatment for a related disease that he thought may help his baby girl.
With nothing to lose and with the help of US experts and Australian and local doctors, Alex started Artemissia on a carefully calculated dose of the new drug, Pyrimethamine, in February – a full seven months before official trials started in the US.
Artemissia’s treatment goes well beyond the new drug.
Alex, Kelly and Colleen work in shifts so someone is constantly monitoring and working with Artemissia.
She also receives regular physiotherapy and other treatments.
She remains very sick, nonetheless the changes have been remarkable.
A year ago she was paralysed, had gone blind and deaf and needed regular doses of morphine to control her pain. She also needed other heavy medications to pull her back from the brink when various medical emergencies developed.
Her medical chart for the past year tells the story.
Within a few weeks of starting the new treatment the amount of morphine she needed dropped dramatically, as did the number of medical emergencies.
Artemissia still needs around-the-clock care, but is now largely morphine-free and has not had an emer-gency for months.
The changes are visible elsewhere as well.
“A year ago, if she squeezed your finger it was a big deal,” Alex said.
Today, when Artemissia is put in a device, called a monkey, to help her stand, she can hold her head up and brace herself with her arms.
Her senses of sight and hearing appear to be slowly returning.
“You can see the paralysis going,” Alex said.
“You can see many different areas going forward.
“Improvements are happening – tiny as they are.”
Alex said the progress happening now, along with advances in gene therapy, meant within a few years Artemissia may even make a full recovery. Alex and Kelly said their miracle came when Alex found out about Pyrimethamine.
They said despite her affliction, Artemissia had many more blessings than an experimental drug.
Kelly said one of the most important elements of Artemissia’s treatment was the love she was given by those caring for her.
“We do what we can, but the only thing that’s important to me is we just love her – it’s that simple,” Kelly said.
That love went beyond the family into the broader community.
The elderly palliative care volunteer assigned to help Alex, Kelly and Colleen care for Artemissia at the medical establishment which had her officially classed as dying still visits Artemissia, even though the child is now officially classed as in rehabilitation – because she adores the child.
“Everyone’s got a role to play, including Artemissia,” Kelly said.
“She remembers that she’s loved, and through that has chosen to stick around for as long as she wants to.”How to help
An Australia Day fundraiser will be held at Burringbar on January 26 to help Artemissia’s family and raise funds for children’s charity Paradise Kids/Hopewell Hospice.
Direct donations can be made at any Westpac branch to BSB 032 584; account number: 190 827; account name: Ms Kelly Kimborley Ryan as trustee for Artemissia.