For months tears devoured us. Immediately we were unable to give our son one of his basic needs — health.”

Dr. Jillian Wise, Wesley's mother

With the rate at which science is moving, things that weren’t possible 10 years ago, are now. That’s only going to continue.”

Kevin McGoff, Wesley's father

A local couple who refused to accept that their young son’s rare genetic disorder couldn’t be cured may end up saving or prolonging his life, and the lives of thousands of others.

Five years after they formed a nonprofit to fund and drive needed research into his condition, a cure for Wesley McGoff, 7, may lie deep within the genetic code of mice being bred at the Jackson Laboratory for Mammalian Genetics in Bar Harbor, Maine.

Those mice, engineered with Wesley's DNA, offer real hope for a treatment, and his parents believe they are on the cusp of something great.

Wesley

Wesley, who turns 8 in August, is the son of Dr. Jillian Wise, a professor of genetics and cancer researcher, and Kevin McGoff, a patent attorney who also holds an undergraduate degree in mechanical engineering from Lafayette College. Wesley has a big sister, Carolyn, who is 9, and the family of four lives in a small ranch house on the Westport/Little Compton town line.

Like many kids, Wesley is a sports nut — baseball, basketball, golf, T-ball and ice skating — he’s tried most. But locked into his DNA is a disorder that if left untreated will eventually force him into a wheelchair and will likely shorten his life.

Wesley has Collagen VI-related muscular dystrophy, a rare genetic disorder that affects his muscles’ ability to grow and strengthen. While muscular dystrophy is sometimes used as a catch-all phrase for several separate conditions that affect millions, Wesley’s form is exceedingly rare, affecting some 3,000 patients in the United States and about 4,500 across Europe. For that reason, it has not been studied to the same extent as Duchenne and Becker, the two most common dystrophies.

While those conditions affect dystrophin, a protein in skeletal muscle membranes, Wesley's affects his collagen, which makes up the casing that surrounds his muscles and other tissues, giving them strength and resiliency.

While normal collagen VI develops in a cohesive, woven sheath, Wesley's is broken and jumbled, and his disorder manifests itself in weakened muscles, particularly in his core, and can cause respiratory issues and the loss of mobility. It is progressive and will worsen with time.

His parents have always encouraged him to participate in sports to keep him mobile and active — “It’s like, ‘If you don’t use it you lose it’ on steroids,” his dad said. “If he doesn’t stay active he declines pretty quickly.”

But he would have gravitated toward them anyway — "He loves sports, he just loves them. I'm hoping Wesley gets to be mobile forever, and walking,” his mom said.

Diagnosis

Dr. Wise grew up in Foxboro, and was first drawn to biological science and, specifically, cancer research, as a teenager.

She studied genetics at Worcester Polytechnic Institute, earned her Ph.D. from the esteemed MD Anderson Cancer Center at the University of Texas, and was formerly an instructor at Harvard Medical School before leaving for Salve Regina University in Newport, where she now teaches biology and biomedical sciences. She met Kevin, a Westport native, while she was pursuing her Ph.D. They have been married 12 years and Wesley arrived on Saturday, Aug. 19, 2017, a seemingly healthy baby boy of 9-plus pounds.

For the first few years of his life, Wesley appeared healthy. But at age 2, his parents noticed the first of his issues when he started walking with one foot pointed inward. They called in a physical therapist who told them that he had what’s known as a Gower Stance, a physical behavior common in patients with muscular dystrophy.

“We called our doctors in panic, and they immediately assured us that our son certainly did not have classical muscular dystrophy, but they would investigate other forms,” his mom said.

The devastating answer came via email in December 2019, as the family stood in the parking lot of Disney World in Florida, getting ready to walk in for a day of fun.

“Wesley has Collagen VI-related muscular dystrophy,” McGoff recalls of reading that email. There was no treatment, and it would get worse.

“For months tears devoured us,” Wesley’s mom wrote. “Immediately we were unable to give our son one of his basic needs — health.”

But the couple never accepted that there was nothing to be done. And with their backgrounds, they were particularly well-suited to find reason for hope.

The Col6 Fund

McGoff calls his wife a “rock star,” and from the day of Wesley’s diagnosis, she devoured every bit of research she could find on his condition.

Her high-level scientific background gave her a distinct advantage — she not only understood the incredibly complex science involved, but also had access to some of the leading researchers, labs and doctors in the world — they are her colleagues.

So she started contacting everyone she could; with Kevin, joined a group for parents of children with rare disorders, and soaked up everything she could find. The more she learned, the more she and Kevin came to believe the doctors were wrong. There could be a way to cure Wesley, they suspected.

While many diseases that don’t affect large numbers of people are under-studied, science and computer-based engineering and treatment development have transformed the world of medicine over the past 10 or 15 years, offering the possibility of “personalized medicine” that offers hope where there once was none.

Also known as precision medicine, this emerging model tailors treatments to a patient’s unique characteristics and genetic make-up. Doctors use genetic testing to create disease models and hopefully bring treatments through the trials stage. All that’s needed is persistence, sound science and lots of money.

A few months after Wesley’s diagnosis, Wise and McGoff launched the Col6 Fund, a 501(c)3 nonprofit dedicated to finding and funding a cure, and offering answers, resources and hope for other families facing similar conditions.

From the start, the couple pledged to donate every penny received to their mission, and they fund the foundation — website expenses, legal work and everything else involved — out of pocket.

To date, the fund has raised approximately $450,000, and the couple believe that if they can find and prove the efficacy of a treatment, it will cost millions more to bring it to human trials and, hopefully, the market, later.

“It’s definitely doable,” McGoff said. “We have a real opportunity here.”

Breakthrough

One of Wise’s biggest breakthroughs came when she found research that, while not specifically addressing Collagen VI, appears applicable.

Consider a strand of DNA, the body’s genetic blueprint: It is often described visually as a double helix, because it consists of two woven strands intertwined in a spiral shape. Each half of this double helix produces collagen and in Wesley’s case, one strand produces healthy collagen, and the other a mutated version.

But Wise learned the body does not need both sides to produce collagen, and it is possible to shut off the unhealthy half, leaving the healthy side to carry the load. It’s similar to kidneys — everyone has two, but only needs one to survive.

“All we need to do is test that and find a delivery method,” McGoff said.

Bringing potential treatments and cures to the market is an incredibly complicated, slow-moving and expensive proposition. But by last year, the couple’s Col6 Fund had raised enough to fund at least the first two phases of their strategy — designing and bringing a genetic model to a lab, finding a mechanism and delivery system, and testing it in mice, which are particularly suitable to this type of testing.

Working with experts from the National Institutes of Health and other organizations, their path eventually led to Maine.

Using Wesley’s DNA as a guide, geneticists at the Jackson Lab have since engineered mice with his condition — all have the same broken, jumbled collagen strands that he has.

The next steps are to find a key that will unlock the collagen’s genetic door and provide a delivery system for the treatment that would hopefully shut down collagen production in one of the strands, and prove its effectiveness and safety. Though it is early, McGoff said he and Jillian are extremely optimistic.

What’s next?

Both Wesley and his parents face a long road.

Assuming the Maine testing is successful, the next step would be human trials, a lengthy, expensive process. McGoff said that as studies continue, the need for additional funding will also rise, and thus he speaks about the Col6 Fund to everyone who asks, and many who don’t.

“This is my dad job now,” he said. “We’re on a mission. We’ve had a lot of people who (donated and) trusted us with blind faith. If we prove that therapy is successful, we won’t need blind faith.

“I feel like in 10 years, worst case scenario, we’re homing in” on a delivery method for a treatment, he said. “With the rate at which science is moving, things that weren’t possible 10 years ago, are now. That’s only going to continue.”

Until then, they look hopefully toward the day when Wesley, strong and healthy, will be able to run, shoot baskets and hit bombs over the straightaway center field wall.

Learn more about the effort

When they set out to find a cure for their son and others who suffer from his rare genetic disorder, Dr. Jillian Wise and Kevin McGoff knew progress would not be quick, and it would be expensive.

But five years after establishing the Col6 Fund, their 501(C)3 non-profit, and www.col6fund.org, its fundraising arm, they are making progress.

To date, the fund has received some $450,000 in donations — enough to start the first phase of genetic modeling and animal testing, and to help other families learn more about the life-changing disorder.

As researchers continue to move toward a potential cure, the need for funding will only increase. To learn more about Collagen 6 muscular dystrophy, what is being done to find a cure, and what you can do to help, click here.