'I decided to fight like a mother': How one parent is battling to cure a disease so rare it has no name
- Amber Freed's son Maxwell was diagnosed with a disease so rare it doesn't even have a name.
- At the time of Maxwell's diagnosis, there were only 50 known cases in the world.
- Amber is fighting to raise money for research into genetic therapy to treat the disease.
The only thing Amber Freed ever wanted was to be a mom.
Like a lot of people, she and her husband Mark had a hard time conceiving. But after two years of IVF treatments, the Denver couple got a double dose of good news: Amber was pregnant with twins.
Maxwell and Riley were born on March 27, 2017.
"They instantly changed my life and made me so happy," Amber said.
But while the twins came into the world together, they didn't develop at the same pace as they grew. When they were about four months old, Amber and Mark noticed the difference: Maxwell wasn't reaching for toys or his bottle like his sister did – he didn't use his hands at all.
After six months of genetic testing, Maxwell was diagnosed with a disease so rare it doesn't even have a name. Instead, it's known by its genetic location: SLC6A1. At the time of Maxwell's diagnosis, there were only 50 known cases in the world.
"I just remember thinking that that wasn't the name of a disease. It was the name of a flight number," said Amber. "I could not understand what my perfect, beautiful little baby boy had, and neither could the doctors."
What they did know was that Maxwell's rare neurological condition would likely cause severe movement and speech disorders and intellectual disability. Between the ages of three and four, Maxwell is expected to develop a debilitating form of epilepsy and start to regress.
Amber refused to just sit back and watch that happen. She quit her job as a financial analyst at Janus Henderson the day Maxwell was diagnosed, and dedicated herself to finding a cure.
"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," she said. "And I decided to fight like a mother."
She asked the doctors what they would do if Maxwell were their child. They told her to "call scientists."
Working 80 hours a week, Amber became an expert in the biology of the disease and reached out to 140 scientists over the next three months. She founded a non-profit and in 10 months, between that and a GoFundMe campaign, has raised $1 million to fund the initial research into a cure.
Amber was told gene replacement therapy was Maxwell's best hope.
The Food and Drug Administration has already approved gene therapy for some other diseases, including a rare form of vision loss and for some leukemia patients. It involves introducing a new gene through a virus that doesn't make the patient sick. It targets the defective gene, replacing it with a good copy, altering the patient's DNA and — it's hoped —dramatically improving the disease with a single treatment.
At some point, Amber decided Dr. Steven Gray at the University of Texas Southwestern Medical Center in Dallas was the best person to help her son. But Gray was busy and hard to pin down. So Amber showed up at a conference where she knew he'd be speaking, and sat down next to him. After a four-hour dinner that night, they had a game plan.
Gray's team has advanced their research on SLC6A1 to the point where they're ready to start clinical trials.
But a phase one trial requires money. A lot of money. Amber needs another $3 million to $6 million — and connections in the drug industry.
So she's joining the thousands of health industry investors and executives flying to San Francisco for the JPMorgan Healthcare Conference this week. You'll never find a place with a denser concentration of the people who fund drug development. She's hoping for donations or maybe to find a biotech company that would want to invest as a business opportunity.
But the Freed family is racing against the clock. Amber and Mark's little boy, who they call "Mr. Snuggles" because he loves hugging his sister and giving open mouth kisses, could start having debilitating seizures within the next year.
And even if she can get a clinical trial started, there's never a guarantee any patient, including Maxwell, will be admitted.
"The University of Texas Southwestern was very straightforward upfront that you may not be doing this for Maxwell," Amber explained. "There's a chance this may not be done in time for him, that you're doing it for every child that comes after him. And I lived with that fear and uncertainty for a very long time. And I understand and the way I make peace with it is thinking that there's no greater legacy in the world and doing the best you can to really impact a multitude of little lives."
She says her dream is that SLC6A1 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.
"They will never become symptomatic of this disease," she hopes. "There will never be another Maxwell Freed."
CORRECTION: This article was updated to correct the number of hours Amber Freed worked trying to find a cure for her son. It was 80 hours a week.