MINNEAPOLIS - A Hopkins mother is a driving force behind a new bill introduced in the Minnesota State Legislature to create a rare disease advisory council.
If passed, Minnesota would be among a handful of states to create an advisory council to advocate for the research and treatment of rare diseases.
Erica Barnes’ daughter Chloe died from Metachromatic Leukodystrophy (MLD), a rare degenerative neural disorder similar to ALS, but moves at a more rapid rate in a child. Barnes watched as her daughter slowly lost her spunk and function beginning at one year old.
Chloe underwent a bone marrow transplant at Mayo Clinic but passed away a few weeks later. It was a mere six weeks between her diagnosis and death, not long after her 2nd birthday.
Barnes’ journey of rare disease advocacy first began by Chloe's Fight Rare Disease Foundation to fund University of Minnesota research on rare genetic childhood diseases.
“Knowing that 1 in 10 Minnesotans are affected by a rare disease and knowing there 7,000 rare diseases and 500 treatments, that is just a really bad ratio,” said Barnes.
Barnes gained the support of Minnesota House Representative Matt Dean, R-Dellwood, whose wife lost two siblings to MLD, who helped author the bill. The council would be compromised of researchers, doctors and patient advocates that could identify best practices in Minnesota to advance early diagnosis, treatment and research.
“I remember someone saying to me early in the process if somebody loses a spouse we call that person a widow. If someone loses a parent, we call that person an orphan, but if someone loses a child, there is no word because it's so hard and bad,” said Barnes. “I think the reason there is no word for it is the word doesn't change. I'm still Chloe's mom. I'm still her parent. I've very driven by finding a way to continue to parent her.”
“Erica is a remarkable individual. She is changing the future of this field,” said Dr. Jakub Tolar, Dean of the University of Minnesota Medical School. “Instead of closing up, she opens up and she sees that there is a power of good.”
Barnes’ devotion caught the attention of Dr. Tolar who sees curing rare diseases as a moral mandate. His team of researchers are among only a few in the world making revolutionary gains in the field of gene therapy and gene editing.
“You have to change the gene mutation, the mistake in the genome, the blueprint, the book of life,” said Dr. Tolar. “Unless you disassemble the disorder in the lab, unless you understand it, then come back to the clinic, you will never move the needle.”
Dr. Tolar estimates great gains in this gene therapy in the next few years, research that will not be accomplished if it weren't for the funding from Chloe's Fight Rare Disease Foundation.
He also said rare diseases often give a glimpse into more common diseases, as rare diseases stem from a single mutation, doctors can isolate pathfinders that give more information on a more complex disease.
“We are very good at this in Minnesota. Science is the solution, you can be compassionate as you want as a physician, but that alone will not change the natural history of the disease,” said Dr. Tolar.
Even when pioneering advances in the lab or in the legislature, a mother remains driven by the most important title of all.
“I get a very strong sense that someday if I don't give up, I'll hear a ‘good job Mom’ from her someday. And I envision that moment, I just want to be Chloe’s mom so it keeps me very grounded and very centered,” said Barnes.