- Amber was devastated after his son was diagnosed with a rare disease that didn’t have a name nor cure.
- So she quit her job and raised millions of dollars to fund research to look for the cure.
- Last year, the cure was discovered and is now just waiting for approval from the FDA.
In 2018, Amber Freed’s young boy, Maxwell, was diagnosed with a rare disease that didn’t even have a name yet. The 38-year-old mom can still vividly remember how devastated she was at that time!
“Most of us have suffered through what we would call our lowest minute in life, like our deepest, darkest moment,” she told PEOPLE. “Amplify that by exponentially 1 million times. And that’s what it feels like when your child is diagnosed with a disease that doesn’t have any name.
But instead of drowning into hopelessness, Amber took action and went on raising millions of dollars to fund the research of the treatment for the disease.
“If I were doing this for myself, I would have stopped,” she said. “But I’m not doing it for myself, I’m doing it for a perfect little boy named Maxwell Freed, and I can work forever for him.”
Maxwell and his twin Riley were born in March 2017 — two years after Amber had IVF treatments.
But that happiness was cut short four months later when they noticed something was amiss with Maxwell. Then he was diagnosed with SLC6A1 — a rare neurological disease that was only called by its genetic location.
Aside from the fact that the information about the disease was so scarce, the most devastating part was that even the doctors could not tell if Maxwell would survive it or not.
“[They said] ‘We don’t know anything else, but hopefully you can become the expert and educate us,’” Amber recalled. “I realized that if anybody was going to cure this disease, it was going to be [my husband and I], that we had to figure this out on our own.”
Distressed but determined, she quit her job and started courting scientists’ attention to help her find solutions. She would even send them treats just so they would notice her.
Until finally, she met Dr. Steven Gray from the University of Texas Southwestern Medical Center — who was very hard to pin down that she had to take a flight and attend a conference just to be able to talk to him. They both talked at dinner and agreed to work Maxwell’s case which would cost a massive amount of money and time.
Last year, their efforts paid off when the major breakthrough happened. The treatment is DNA replacement using a new gene through a virus that corrects the DNA in the brain.
Now, it is just waiting for approval from the US FDA before the gene therapy is put to use.