BILLINGS, Mont. -- Amber is the mother of a pair of two-year-old twins: Maxwell and Riley Freed. Amber's son, Maxwell was diagnosed with a genetic disorder so rare, that it doesn't even have a name. Due to the nature of his disease -- Maxwell and his family are fighting a ticking clock -- and have at most two years to come up with a cure.
Shortly after Maxwell and Riley's birth, Amber and her husband noticed that Maxwell wasn't progressing at the same rate as his sister, Riley. Maxwell could not use his hands properly and could barely move.
"He was diagnosed with a disease that didn't even have a name. It was only known by its genetic location -- which is SLC6A1," states Amber.
Finally, Amber found a genetic clinic that confirmed her and her husband's worst fears. Maxwell is one of only thirty-four people in the world diagnosed with a rare genetic disease causing developmental disabilities, movement disorder and epilepsy.
Amber recalls, "It was in that moment that I asked the doctors, 'I appreciate the sympathy, but if this was your child today, what would you do in the next ten minutes?' and they said call scientists. and so that's exactly what I did."
Amber called 140 scientists over the course of three months. When she didn't hear a response, she would send them snacks via Uber Eats, photos of Maxwell, and handwritten letters. Freed says this was a successful way of getting their attention.
Finally, scientists identified genetic replacement therapy as a way to fight the disease. However, it will cost one million dollars just to get the research started, and four to seven million dollars to start the clinical trial.
Amber explains to us what scientists are developing could be a novel treatment for autism, epilepsy, and many psychiatric disorders, "This is something that will help a large group of people. This has the implications to go far beyond Maxwell and hopefully in ten years, an autism diagnosis can be treated with this and epilepsy and there will be thousands of children that will come after Maxwell that will never suffer from this rare disease."
Amber has set up a GoFundMe page to raise money for genetic research and a clinical trial. (https://www.gofundme.com/slc6a1-connect). She hopes with the help of others, scientists can help thousands of children like Maxwell who suffer from genetic disorders.
Amber Freed informs us that mice have been dosed with the treatment just last week, and she hopes that they can raise enough money to start the clinical trial next year. So far, the family has raised over $500,000.