Mom trying to fund treatment for teen's rare disease
Gene therapy could not only help teenager but lead to cures for other rare diseases
Barbara Insley went half way around the world to adopt her daughters Makeda, 13, and Adina, 5. Now she is reaching out to the world for support to help save one of their lives. Makeda, 13, was diagnosed in 2019 with a fatal neurode generative disease called as party lg lu co sam in uri a, or AGU, that has no treatment or cure.
Without treatment, Makeda's speech and mobility and brain function will start to decline and she will most likely die as a young adult. She is the only known child in Canada with this disease.
“I adopted them both from Ethiopia. Makeda came home when she was six months, and Adina when she was 2½,” said Insley, chief compliance officer with Capital Direct.
“Makeda was healthy,” said Insley. “AGU is one of those freaky things where you have to have a mutation from each parent to get the disease.”
Insley said that although Makeda was late crawling, walking and talking, she progressed to catch up with other kids. But she was a little clumsy — her knees still bear the scars of frequent tumbles — and the age of four an MRI revealed some anomalies in her brain.
“We had diagnoses of learning disabilities, ADHD, autism, before the genetic testing finally revealed it was AGU,” said Insley.
AGU is extremely rare — there are only about 300 children in the world with the disease. Makeda is the only known child in Canada with the disorder which is caused by a defect in an enzyme that breaks down proteins. AGU causes progressive damage to the body.
Insley has connected with other families around the world who have come together to fund research on a promising treatment, and she has set up a non-profit, Rare Trait Hope, with the goal of funding a clinical trial in 2021 that Makeda and other children will participate in.
The treatment would insert a good copy of the defective AGA gene through the spinal fluid, which then carries the gene to the brain where it hopefully produce the necessary enzyme. The procedure used is similar to other genetic therapies and has shown promising results for other genetic diseases, said Insley.
“We are all working together on this,” said Insley, who needs to raise $500,000 for her daughter's treatment. “Ultra rare diseases don't get any attention because these companies want to fund diseases they can make money off. We have to raise the money privately.”
Insley said she wants people to know this isn't just about her daughter.
“It's not just about saving Makeda's life,” said Insley. “Gene therapies are the next solution to these rare diseases, and the money spent on one clinical trial increases the knowledge for another clinical trial, which decreases the cost and increases the speed of approval for other treatments.”
Insley said that since she adopted Makeda, she has learned that it takes a village to raise a child.
“The only way I get through this is because I have a village, the support from the Ethiopian adoption community, my friends, my family, everyone who is stepping up to help me save my child's life.”
Insley has also set up a GoFundMe page at https://www.gofundme.com/f/miracle-for-makeda