Ben and Jennifer Harris sit with two of their children, 2-year-old Lucia and 4-year-old Benjamin Jr., in the family living room. Benjamin has a rare genetic disorder called ATRX, which has given him mobility, vision and gastrointestinal problems, as well as intellectual delays. His parents are raising money to advance work on a promising gene therapy and drug repurposing to treat his condition. Argen Marie Duncan photo.

Four-year-old Benjamin Harris Jr. looks at his mother, Jennifer Harris, through his blue-framed glasses and beams at her as she talks to him.

He can’t walk, crawl or speak, and he has difficulty swallowing. He also has intellectual disability and vision impairment.

Gastrointestinal pain sometimes leaves him crying inconsolably even though doctors can’t find the exact cause.

Benjamin has ATRX, a rare genetic disorder that affects patients in different ways. His father, Ben Harris, said Benjamin’s symptoms fall into the mid-range of severity.

His parents are determined to raise enough money to fund development of a genetic therapy for ATRX and research to repurpose existing drugs to treat the syndrome, efforts already under way.

“If you could help your child walk or talk right, eat, why wouldn’t you? Why wouldn’t you try?” Jennifer said.

Ben and Jennifer are turning to the community for help moving the research forward. To start, they need to raise $250,000 quickly to keep the researchers working.

“We know we may be disadvantaged by population, but New Mexico is strong,” Jennifer said.

Genetic therapy for ATRX could also help patients with other rare diseases and even cancer. According to the National Institutes of Health, an estimated 25 million to 30 million people in the U.S. have some sort of rare disease.

Jennifer gave up her career to become Benjamin’s full-time caregiver.

“But you know, he is just the best kid,” she said. “He’s always willing to greet me with a smile. He works hard in his therapies. He’s so motivated. And every time he learns a new skill, he’s so proud of himself. He desperately wants to be independent.”

Between them, Jennifer and Ben have nine children, seven of whom still live at home. The Harrises are the only family in New Mexico dealing with diagnosed ATRX, and one of about 20 families in the United States.

Getting a diagnosis took until Benjamin was 2.

ATRX involves a large gene. Among other things, it gives Benjamin hypotonia, a loss of muscle tone, throughout his body.

“For him, the effort it takes to hold his head up is so much more than for us,” Jennifer said.

He eats a specialized diet because the hypotonia makes swallowing and eating difficult. If food particles enter his lungs, it could cause pneumonia, and Benjamin wouldn’t be able to cough well enough to clear his lungs.

Ben said the boy is still developing abilities most people learn as babies.

“He sees a slew of specialists – neurology, genetics, GI,” Ben said.

His son also has physical, occupational, speech and feeding therapists, and sees a specialist in Colorado a couple of times a year. He attends the Albuquerque branch of the New Mexico School for the Blind and Visually Impaired.

After building a team of people to help Benjamin, Jennifer asked about clinical trials or medication that might do more than treatment symptoms. There were none, doctors told her.

“There was no way to take action, and it felt like there was no one taking action,” Jennifer said.

She began contacting anyone who had anything to do with ATRX. Eventually, her persistence paid off.

“I started following what felt like a bread-crumb trail,” she said.

She reached expert scientist and researcher Allison Bradbury, who’d just finished work on a genetic therapy vehicle for a condition similar to ATRX. Jennifer connected Bradbury with other researchers, and the scientific group thought it would be difficult but possible find a gene therapy for ATRX.

“Gene therapy is the holy grail of treatment,” Jennifer said. “You don’t have to be bound to a lifetime of pills.”

The researchers have a head start from Bradbury’s prior work. Still, families living with ATRX face a complicated five- to seven-year process for researchers to develop the treatment and get it to the federal Food and Drug Administration for clinical trials. It’s expected to cost some $5 million.

For now, Ben said, the researchers need money to develop a proof of concept. Then, they’ll be able to apply for money from big organizations.

“The raw truth is, for any rare disease community, the funding (for treatments) comes from laypeople,” Jennifer said.

The Harrises are in a hurry because genetic therapy has the most benefits if patients receive it early in life. The FDA could even set an age limit that excludes Benjamin from clinical trials by the time it gets that far.

“We are committed to this cause whether Benjamin ends up being part of this trial or not,” Ben said.

Jennifer said she and her husband prayed about that decision and remained committed, to the point that she signed contracts while in labor with her youngest child a few months ago.

The Harrises are also connected with Rare Base, a startup biotech company in Silicon Valley dedicated to finding treatments for as many rare diseases as possible. Those researchers are looking at what drugs might be repurposed to help with ATRX, a shorter-term treatment than genetic therapy.

The Harrises hope to see results in January. Then getting appropriate mice for tests, doing the tests and getting FDA approval remain – as do the costs for those activities.

“We believe in this cause, so we invested heavily to get this started,” Jennifer said.

But she and her husband can’t finance the work on their own.

Ben said a lot of people giving a little can make the difference. The Harrises also need help organizing fundraising events.

They’re raising money through the Texas-based nonprofit Rare Village, so they can offer tax deductions to donors. Plus, Rare Village finds matching corporate donors.

To donate money, visit https://give.rarevillage.org/campaign/cure-atrx/c341782.

To contribute event-planning or fundraising skills, or a venue for an event, contact Jennifer at cure.ATRX@gmail.com.

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