Claire Aldrich died on January 7, 2020, just shy of her 1st birthday.
She had a genetic mutation, which only a handful of children in the world had at the time, her mother, Sally Aldrich, said.
Claire had a magnetic resonance imaging (MRI) brain scan when she was 6 weeks old, which came back normal.
At 8 months old, she had another MRI and her brain "had atrophied away, most of it", Miss Aldrich said.
The doctors gave Claire six to 12 months to live, but she died two weeks later.
"We didn’t have the answers and it was lonely," Miss Aldrich said yesterday. "And it was hard. There wasn’t that support network.
"So many parents of children who have rare diseases need support more than [at] any other time in their life."
When her daughter died, Miss Aldrich was living in Fairfax, Virginia, in the United States.
She is now a second-year biomedicine student at the University of Otago.
Since Claire’s death, Miss Aldrich has had twins and now has three healthy young children.
Yesterday, she joined about 20 rare disease researchers at the university to mark Rare Disease Day, the last day of February, and the lead-in to Rare Disease Month this month.
Otago University Brain Health Research Centre director Prof Stephanie Hughes said she often heard it was lonely for parents of children with rare diseases.
The disease she works on is a rare, childhood neurological disorder called Batten disease. There are only a couple of patients in New Zealand.
However, work was under way, by a group of about 20 university researchers, to establish a "rare diseases network", which could help to end the isolation.
"The aim is to try and link in clinicians with translational research and basic research so that we are getting an idea of why we are doing what we do and we have a more direct line of sight to what’s important for the family," Prof Hughes said.
Rare diseases could present a raft of different symptoms.
However, most commonly they were genetic in origin, about 50% affected children, and about 95% had no treatments, she said.
To commemorate Rare Disease Day, last night the university clocktower, Tūhura Otago Museum, Otago Boys’ High School and the Dunedin Railway Station were lit in orange.
