Minnesota toddler's life hangs in balance as drug for her rare disease is set to be discontinued

The cerebellum of a mouse brain affected by Niemann-Pick Type C (NPC), a rare neurological disorder. NIH researchers are conducting studies to advance treatments for NPC and similar rare diseases.
The family of a Minnesota toddler with a deadly disease is fighting for her life after a drugmaker discontinued a medicine that has helped treat her condition.
Sara and Mitch Peterka, of Minnetonka, are among a group of parents around the world doing all they can to spread the urgent message that they hope will save the lives of children with Niemann-Pick Type C (NPC), a rare neurological disorder.
Emma Peterka, 2, has NPC, and her parents fear she'll die if Mallinckrodt, the pharmaceutical company that makes a drug that treats the disease, discontinues production of adrabetadex as is planned later this year.
"Without this medicine, they will needlessly suffer and die - losing their ability to speak, walk, talk, and more. This is literally life or death and they are all about to lose access to this medicine in only a few months," explains an online fundraiser for NPC families.
Mitch Peterka told WCCO-TV that Emma "will die without this medication," while Sara said that news of the drug being discontinued was "devastating."
Mallinckrodt plans to stop providing adrabetadex to eligible NPC patients in October 2021. The drugmaker issued a statement saying that although some children have benefitted from adrabetadex, clinical studies show there is not enough evidence to confirm the medicine helps treat NPC.
"We are aware that some families and their physicians report seeing benefit in children being treated with adrabetadex. These reports and case studies were the reason we were hopeful the scientific study would also demonstrate evidence of benefit for patients with NPC. However, after exhaustive analysis of clinical data, there is no clear evidence that adrabetadex changes or improves disease progression across the group of patients that were studied."
The online fundraiser was launched by a group of NPC moms, who liken the condition to a combination of Alzheimers, Parkinson's and ALS.
It has raised more than $122,000 as of this writing, and all proceeds will go to a charitable organization that are used to "assemble an expert team to champion our children's benefit and need to safeguard access to this medicine."
According to Mayo Clinic, NPC mainly affects children, has "no known cure and is sometimes fatal." The disease causes a progressive loss of nerve, brain and other organ function.