Finding hope for little girl
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 to 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, 2, has begun 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 The Northern Star first reported on Artemissia’s plight last Christmas her family had taken her home and had become experts in palliative care as they tried to make her comfortable in the days, weeks or months before the illness killed her.
But Alex (he asked the family’s surnames not be used after they were visited by a variety of mystic-style healers after previous stories on them), 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 in 1967, and early this year found an experimental treatment for a related disease that might 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 new drug, Pyrimethamine, in February, seven months before official US trials began.
Artemissia’s treatment goes well beyond the new drug. Alex, Kelly and Colleen work in shifts so someone is constantly monitoring and working with the child. She also receives regular physiotherapy and other treatments.
A year ago she was paralysed, blind and deaf, and needed morphine to control the pain and other heavy medications to pull her back from the brink in various emergencies.
Her medical chart tells the story. Within a few weeks of starting the new treatment the morphine she needed dropped dramatically, as did the number of emergencies.
Today Artemissia still needs around-the-clock care, but is largely morphine-free and has not had a medical emergency for months.
And the changes are visible elsewhere as well.
“A year ago if she squeezed your finger it was a big deal,” Alex said. Today, when she is put in a device to help her stand, she can hold her head up and brace herself with her arms. Her sight and hearing seem 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.”
The progress, along with advances in gene therapy, mean it is likely Artemissia may make a full recovery in a few years.
Despite her affliction, Artemissia has many more blessings than an experimental drug. Kelly said one of the most important elements of her treatment was the love 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 goes beyond the family into the community.
The elderly palliative care volunteer still comes around, even though Artemissia is now officially 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
THE broader Burringbar community is rallying to prepare a massive Australia Day fundraiser to help Artemissia’s family.
Georgina Wood, of the Burringbar District Sports Club, said the small community would host Tweed Shire’s Australia Day celebrations on January 26 and were hoping to raise money to help Artemissia and her family, as well as children’s charity Paradise Kids/Hopewell Hospice.
The money raised would be invaluable to the family. Their intense focus on helping Artemissia meant they have been unable to put the same level of energy into paid work they normally would.
If you want to help the family, you can donate at any Westpac branch to BSB 032 584; account number 190 827; account name Ms Kelly Kimborley Ryan, as trustee for Artemissia.