The two things that stand between Maxwell Freed and a healthy life are an unprecedented scientific breakthrough and several million dollars. Getting the money may prove to be the harder part.
Two-year-old Maxwell lives in Denver with his twin sister, Riley, his parents, Amber and Mark, and their cat, Nittany. He loves hugs, his sister and bow ties. He was born with a very rare genetic disorder that could leave him with permanent, severe intellectual and developmental disabilities, and a form of epilepsy that’s not treatable with current medications.
Only about 50 people in the world are known to share Maxwell’s problem. It’s so uncommon that it’s known only by the name of the affected gene: SLC6A1.
His mother, Amber Freed, 38, left her job as a financial analyst in 2017 to devote herself full time to fighting to make that cure possible. Maxwell is a good candidate for treatment using the emerging technology of gene therapy, in which a functioning gene is attached to a harmless virus that can carry the new gene through the body and replace the faulty one.
The Food and Drug Administration has already approved gene therapy for diseases like leukemia and lymphoma, and a team of medical researchers at the University of Texas Southwestern Medical Center in Dallas, led by Steven Gray, is already working on ways to expand its use to diseases like Maxwell’s.
But his condition is very rare, which is where the money comes in. Amber and Mark are trying to raise the first $1 million to kick-start research, after which they hope a biotechnology company will step in and fund drug development ― which could cost as much as $7 million, the University of Texas research team estimates.
The couple has already drained their savings seeding the nonprofit Amber founded, called SLC6A1 Connect, setting up medical conferences and traveling to meet with scientists and doctors. The couple decided to turn to GoFundMe to raise the rest of the money.
“I realized that if anything was going to be done, it was going to be entirely us,” Amber said. “We had to become the experts on this disease, because no one is going to do it for you. Ever. So that’s what I did.”
Treatments for rare diseases are almost as rare as the ailments themselves, and money is a big reason. Medical researchers seeking scarce funding have a better chance if they focus on treatments that can help large numbers of people. Drugmakers, too, have less incentive to spend money on medicines only a few people will need. That’s started to change as more novel cures have become available, but they often come at astronomical costs for patients.
So while Maxwell’s disease is far from common, the Freed family is facing the same problem as everyone who gets sick in the United States: Health care is very expensive, and we’re all on our own to figure out how to navigate the labyrinthian health care system and afford care.
Maxwell cannot speak. He’s still trying to master walking, and he lacks the fine motor skills to do things like grasp a Cheerio.
Maxwell is always at risk of what are called ”absence seizures,” formerly known as “petit mal seizures.” When these happen, he appears to be sitting still, staring at nothing, Amber said. These seizures typically last just seconds but were happening as many as 40 times a day until a few months ago.
There were days last fall when he would scream for up to 12 hours at a time, “like he was being stabbed,” Amber said.
An experimental steroid treatment helped alleviate ― but not eliminate ― his symptoms, but it only works once. Amber and Mark don’t know what will happen if or when the drug’s effects wear off.
“You never let your guard down,” Amber said. “You think things are going OK with Maxwell, and there’s a medical emergency.”
Maxwell now attends 12 different types of therapy to help him learn basic skills: horse, occupational, physical, speech, music, movement. The horse therapy has been the most helpful, Amber said. Riding a horse is supposed to help Maxwell understand movement.
“We celebrate every milestone,” Amber said, even as they worry his development could backslide with another setback.
They’re as surprised as anyone to now find themselves needing to use a crowdsourcing platform to pay for his treatment. They both had good jobs, they had insurance, and they had a solid amount of savings.
“We’re far better off than most Americans, but our expenses are ridiculous and there’s absolutely no safety net,” Amber said. “You need to be Bill Gates rich. ... Here we are looking at raising upwards of a million dollars. Like, nobody in the world could possibly plan on something like this.”
Amber is clear-eyed about the prospects, but optimistic. She hopes some wealthy savior will learn about Maxwell and want to help. Maybe they’ll get an appearance on Ellen DeGeneres’ television show, or a big contribution from businessman Mark Cuban.
So far, the Freeds have collected about $400,000, more than two-thirds of that through the GoFundMe campaign they began in November. They’ve also hosted more than 30 fundraising events through SLC6A1 Connect.
Once they do raise that $1 million, they will still need a biotechnology or pharmaceutical company to finance the late stages of the clinical research. Amber has received positive feedback from several companies, but no commitments so far.
The key, she explained, is to advance the science as far as possible so there’s less financial risk for the drugmakers. Because the SLC6A1 gene also is associated with autism and schizophrenia, they believe the market for this type of gene therapy could be bigger than just patients like Maxwell.
Children like Maxwell risk irreversible harm if they don’t receive a cure by the time they hit preschool age. Maxwell, whose parents call him Mr. Snuggles, turned 2 in March. Around age 3 or 4, Maxwell’s developmental disabilities would worsen and he likely would lose some of the basic skills he’s already learned. His epilepsy would become more severe as well.
Amber and Mark were ecstatic when the twins were born two years ago. Both parents had successful careers ― she in finance and he in the energy industry ― and were embarking on parenthood for the first time. Within a few months, however, they began to notice troubling signs about Maxwell’s development.
While Riley was reaching for toys and trying to grab her bottle, Maxwell wasn’t. He didn’t use his hands at all for the first year of his life.
At first, the doctors didn’t listen to Amber and Mark’s concerns. So they sought a second opinion and got genetic testing, which identified the abnormality. Nothing had shown up in the genetic testing done while Amber was pregnant, and neither parent appears to be a carrier.
“We were led to a sterile, bad-news room, with lots of doctors with sad faces,” Amber said. “They told us he was diagnosed with SLC6A1, and I just remember thinking that it sounded like a flight number and didn’t make any sense.”
While progress has been slow, identifying the problem has helped them pursue some treatment options. “In every single therapy appointment, when they’re pushing him, he gives it his max, even though you can see his arms are shaking with fatigue and he’s so tired he’s about to fall asleep.”
But without a cure, he will likely regress.
“We have this window now when we can help him, and we’re fighting like the third monkey on the loading deck to Noah’s ark and it’s starting to rain,” Amber said. “We’re just in this race against time, because he could really lose everything.”
The family has stopped spending money on anything but the most essential needs. Amber rarely sleeps, and often goes days without leaving the house. She’s also locked in a near-constant battle with their health insurance provider, Blue Cross Blue Shield, which has refused to cover therapy visits and clinic appointments in spite of doctors’ insistence that they’re necessary. The company cited the lack of billing codes for his rare disease. The family has already spent $30,000 out of pocket, she estimates.
Amber knows this is all hard on Riley, who is old enough to know that something’s wrong, but not old enough to understand.
It’s exhausting, and it’s lonely. While their friends with children are researching preschools, Amber and Mark are setting up fundraisers and organizing scientists.
“It’s a lot of isolation, fear and just exhaustion,” Amber said. “We can’t just pick up and go to the zoo or go to a friend’s birthday party. We can’t do any of that. And it’s just heartbreaking. This is so far from our expectation of what life would be like. And nobody understands what we’re going through.”
They hope that raising the money could help them get Maxwell into a clinical trial for gene therapy by next spring.
“It’s like a profound existential sadness when you realize you have done everything right your entire life, worked hard, had a good career, you have good health insurance,” Amber said. “Then you get this diagnosis, and if you want your child to have a chance at living, you need to raise millions of dollars yourself.”