A 16-year-old girl who suffered from the effects of a rare neurodegenerative disease died early Friday morning at the palliative care facility, Roger's House, with her parents lying at her side.
India Buxton Taylor inherited two defects affecting one gene, one from her mother and one from her father, to create a rare neurodegenerative disease called SMA-PME (smooth muscle atrophy with progressive myoclonic epilepsy).
The defects prevented neural cells from processing and breaking down lipids, or fats. The fats build up and build up, which eventually causes the cells to stop functioning properly.
India's father, Mark Taylor, likened it to "having a house with a million frays in the electrical wiring" that keep multiplying; it gets progressively worse until the lights finally stop working. That worsened even more over the past month.
“She’s been battling horrific hallucinations of bugs crawling all over the room and coming near her. She thought that I was a walking corpse at one point,” Taylor said Saturday.
“We tried to help her. We gave her a magic wand to ward (the bugs) away.”
The hallucinations were manageable at first, he said, but they got “worse and worse and worse.”
India taken to Roger's House
Just over a week ago, India could no longer swallow. She had come home at that point, Taylor said, but they could no longer feed her food or give her water.
Her parents chose to bring her to Roger’s House, a facility for children in palliative care.
“We weren’t at all convinced she was really dying. This was just another bad turn and all it would take would be something different and she would probably bounce back,” Taylor said.
“But over the course of the week we found that what they were saying was true and we had to learn an awful lot, awfully fast, what dying means and what it looks like.”
Taylor said Roger’s House staff members were “amazing” and they helped him and his wife, Lesley Buxton, while their daughter’s hallucinations worsened.
'All we really wanted to have happen was she died peacefully, and she did.' - Mark Taylor, father of India Buxton Taylor
This past week they worsened some more, Mark Taylor said, and they decided on Thursday evening India was in her final moments.
They lay down in the king-sized bed, one parent on each side, and talked to their daughter. She died hours later, early Friday morning.
“All we really wanted to have happen was she died peacefully, and she did,” Taylor said. “We miss her terribly.”
India's fight helping other children
The Buxton Taylor family has created a website called OneStrong.Org (link on the left side of this page), to encourage donations to help advance research of neurodegenerative lipid disorders.
What is SMA-PME?
- Genetic cause: Autosomal recessive mutation in the gene that encodes for an enzyme called acid ceramidase.
- Cause was only discovered in 2012, according to Dr. Steffany Bennett.
- Bennett's laboratory researches the disease with Dr. David Dyment from the Children's Hospital of Eastern Ontario.
"India was and is a fighter and everyone who was blessed to have known her is better for it," Dr. Steffany Bennett wrote in a statement to CBC News. "India will make the world a better place for other children suffering from this disease."
Bennett, a professor who works in the neural regeneration laboratory at the University of Ottawa, said India's struggle will help other children in the future who battle the illness.
She said research continues as doctors try to identify new treatment for SMA-PME that can be used earlier following diagnosis. She also said her laboratory is working on finding ways to reduce toxic ceramide levels in the brain cells that foster the mutation leading to SMA-PME.
While the condition remains rare, Bennett said there are other children who are currently battling the disease.