DENVER (KDVR) — Most kids want toys under the tree this Christmas, but one Colorado 4-year-old just wants her brother to have a chance at a longer life.
Amber Freed has four-year-old twins, one girl and one boy. Her daughter is completely typical but her son has a rare disease.
Her son Maxwell got the terminal diagnosis just months into his life. Children’s Hospital Colorado broke the news that his disease is so rare that less than 50 people in the world have the disease and Maxwell was one of them.
Her son Maxwell was diagnosed at children’s hospital with a disease so rare it only had a number, not a name — SLC6A1.
Maxwell suffers Parkinson’s-like symptoms, seizures, severe movement and speech disorders, and intellectual disability.
Also, doctors told her other doctors couldn’t do anything to help; she was advised to start calling scientists. She called 300 of them in one month.
“You can actually replace the gene in a child’s body that is not working well. I finally met the scientists that I trusted my son’s life with. And we made a plan to cure this disease together. It was going to take a lot of hard work, hunting scientists from all over the world. To work on this and you descend, but I was also going to need to raise $4 million,” said Amber Freed.
Amber didn’t waste any time, she started a foundation nicknamed Milestones for Maxwell. So far she has raised $3.5 million, mostly through small increments on gofundme. Now she needs just $500,000 more by the end of the year.
Since summer 2018 mom Amber Freed has been fighting to raise money for a clinical trial and gene replacement therapy.
She explains how a global pandemic set them back 18 months.
“COVID has been terrible for rare diseases because all of a sudden, it makes the most sense to fund COVID related scientific projects. And at the beginning of the pandemic, nobody could go in to take care of our mouse colonies and our stem cells. And so our experiment started dying. COVID set us back 18 months …”if you’re in competition with COVID, that probably every person will get at some point, over a super rare pediatric disease, of course the funding will go to COVID.”
Until they can raise this money, Amber said Maxwell is living on borrowed time and worries every day could be his last.