DENVER, Colo. (CNBC) — Imagine having a child who was diagnosed with a disease so rare, it didn’t even have a name.
That nightmare became a reality for mom Amber Freed who was faced with the prospect of her son never being able to live a normal life.
Twins Maxwell and Riley Freed came into the world together.
But as they grew, their parents, Amber and Mark, noticed a difference: Maxwell wasn’t developing the same way as his sister.
After six months of genetic testing, maxwell was diagnosed with a rare disease.
Amber Freed says, “It was known by its genetic location, SLC 6A1. And I just remember thinking that that wasn’t the name of a disease. It was the name of a flight number.”
It’s a rare neurological condition that can cause severe movement and speech disorders and intellectual disability.
Between ages three and four, Maxwell is expected to develop a debilitating form of epilepsy.
Freed says, “It was in that moment that there was no future for my most prized possession in the world, that I was not going to accept that answer for little Maxwell. And I decided to fight like a mother.”
Freed started calling researchers, became an expert in the biology of the disease, founded a non-profit, and in 10 months, has raised a million dollars.
She’s working with a team at the University of Texas Southwestern to advance a gene replacement therapy that she hopes could help Maxwell and others. She says it’s ready to start clinical trials.
What she still needs: More funding, and connections in the drug industry.
Freed says, “What these companies are doing will help the greater good. They are creating miracles for my family, for my little Maxwell Freed and for so many generations to come.”
Amber joined so thousands of health industry investors and executives at the j-p morgan healthcare conference in San Francisco this month.
She says her dream is that the disease will someday be part of a newborn screening panel and that babies with the defect will be able to be treated and cured before they ever leave the hospital.