rare diseases: 'even though jesse’s not here, the clock’s running for somebody else'

from a 286-day cross-canada walk that raised $1.5 million to a gene-editing partnership with toronto's hospital for sick children, people affected by duchenne muscular dystrophy are on a mission to find a cure.

by robin roberts

published feb 28, 2022

last updated feb 28, 2023

7 minute read

join the conversation

7 minute read

join the conversation

gene-editing offers hope for duchenne muscular dystrophy

time is running out to find a cure for duchenne muscular dystrophy. getty

keven and patricia lin have always taken pride in raising their healthy, active kids — good diet, lots of fresh air, hikes and high-impact sports. so when the vancouver family took an extended trip to asia five years ago with their 11-year-old twin girls and seven-year-old son, damian, they kept up that healthy lifestyle. but on one particular hike, they noticed their son struggling. “he was getting a lot of cramps, muscle soreness, his whole body had spasms,” says patricia. “[when we all] caught the flu, it affected him more than all of us. knowing what we know now, those could have been signs and symptoms telling us something was wrong.”

as soon as they returned home, they saw their family doctor, who referred them to a pediatrician, who ran some tests that confirmed the dreaded diagnosis: damian had duchenne muscular dystrophy (dmd).

primarily affecting boys, with symptoms generally appearing around the age of three or four, dmd, according to muscular dystrophy canada, is a genetic disease that causes progressive muscle degeneration. both muscular dystrophy (md) and dmd are caused by mutations in a protein called dystrophin. but unlike md, which has some functioning dystrophin, dmd has none. where the two also differ is in severity, the age they present, and the rate of progression, with md’s muscle weakness usually milder, appearing later in childhood or adolescence, and worsening at a slower rate.

life expectancy is short — 30 years old

dmd usually starts with weakened hip, pelvic and shoulder muscles, which then affects the skeletal muscles. by early teens, the heart and respiratory muscles weaken and patients may need a wheelchair and respiratory aids. there is no cure, and life expectancy is short — about 30 years old.

since it’s primarily a hereditary disease, passed down on the mother’s side, patricia was tested and ruled out as a carrier. “so far, we think it could be a random mutation,” says keven.

damian, who occasionally relies on a wheelchair and is home-schooled, makes regular trips to see his neurologist at bc children’s hospital, where he undergoes physical therapy. he’s also on deflazacort corticosteroids, the standard treatment, and the family has scaled back their high-impact sports and activities.

“we modified our daily life to his comfort level,” says patricia. “before, if he had pain or cramps we just thought it was growing pains and we would push on. we no longer push those boundaries, and he’s been doing really well since.”

but he’s not cured.

after much research on what progress was being made in canada, and finding very little, keven came across an organization called cure rare disease, a non-profit biotechnology company based in boston that is developing custom therapeutics for rare diseases like dmd. he was intrigued by the work they were doing with crispr and gene-editing therapy.

“at first i just wanted to donate some money because i wanted them to reach their mission,” says keven, who is the founder of lin capital management, and previously worked as a computational biologist at bc genome science centre. but after a conversation with cure rare disease’s founder, rich horgan, keven got involved with the organization, putting his tech background to use by helping to design their website.

“rich has this vision and proposition that he could actually solve this disease with gene-editing, if not for this generation of boys, maybe the next,” says keven. “i’m impressed with how fast he’s moving all the time.”

in fact, cure rare disease recently announced a three-year collaborative research project with toronto’s hospital for sick children, with us$500,000 funding from cure rare disease. the goal is to build on the organization’s existing research to develop a crispr/cas9-based treatment to correct gene duplications that cause duchenne by restoring full-length dystrophin — which is critical to muscle strength and function.

in many ways, this research project is a culmination of the more than five years horgan has spent rallying scientists and medical researchers to find a cure for his brother, terry, who was diagnosed with dmd 23 years ago at age three.

terry’s condition became clear much as it did with damian. “it was a combination of things,” says horgan. “the typical signs, like an abnormal gait, and once that walking gets harder you have to use a wheelchair. it also affects the upper limbs, then [progresses to] difficulty chewing and breathing.”

horgan says his family spent thousands of dollars on care and countless visits to clinics, an exercise that was particularly difficult on terry and rich’s mom, who had been through this before.

“my mom had three brothers who had the disease, and back then, in the ’70s and ’80s, there was nothing you could do about it,” he says. “unfortunately, they succumbed to the disease years ago.”

so when the family was told there was no hope for terry either, horgan embarked on a mission to change that. during his first year at harvard business school in 2016, horgan began to network with as many researchers, doctors and drug development scientists as he could, eventually forming cure rare disease to bring several of them all under one umbrella.

‘it’s actually possible to develop a drug for every single patient’

“i was about 26 by then,” says horgan. “i had no idea how to do this, but i had all these researchers and clinicians to call on and ask questions. and then [we discovered] this works in a dish, so what do we do next exactly? that’s when we brought in our collaborators at [pharmaceutical company specializing in gene and cell therapy] charles river laboratories, and they helped to provide guidance and design some of the experiments. once we had success in mice, we went to the fda to get guidance from them. that [became] the rest of the playbook to go into the clinic, which is what we’re following up on now. i [thought], it is actually possible to develop a drug for every single patient, so let’s do it.”

just as horgan and the lins felt they needed to do something to help their family member, so too did john davidson for his son, jesse, who was diagnosed with duchenne in 1986, at the age of six.

“this is one of those things that drops into your life from nowhere,” says davidson. “this was a complete genetic fluke for us, there’s no history in the family. so, of course, it catches you completely off-guard. first you cry, then you wonder what we did wrong, you beat yourself up a bit. and at the time, there was very little research being done, as in borderline nothing.”

the diagnosis didn’t deter young jesse from living a full life, however. he was active in sports, the culinary arts, the school choir, and, in high school, in business and commerce, where he joined junior achievement. but along the way, his condition worsened, and still there was no useful, definitive research being conducted in canada.

“eventually you say, ok, it is what it is, let’s pick up the pieces and see where we go from here,” says davidson.

where they went from there, in 1995, was on a 3300-km, 124-day trek across ontario, with john pushing jesse, 15, in his wheelchair, to raise awareness and funding for duchenne research. at the end, a foundation was born, called jesse’s journey, to continue the work.

meanwhile, jesse returned to school, then college, earning a diploma in hotel and restaurant management, allowing him to work in event management. he also moved into his own apartment, handled his own finances and hired his helpers. at the same time, he continued to be involved in the charity he co-founded, recording tv and radio commercials and making personal appearances.

and still there had been no forward movement on a cure. so his dad decided to take things a step further. in 1998, at the age of 52 and winding up a 30-year media career, davidson laced up his running shoes and hit the road again, this time going beyond the borders of ontario, and this time, alone. over 286 days, he walked from newfoundland all the way to victoria, bc, raising $1.5 million by the end. his books, the right road and jesse’s journey: a canadian story, detail not only the challenges along the way, but serve as a tribute to his son, who died in 2009 at the age of 29.

in mid-february of 2022, jesse’s journey rebranded as defeat duchenne to reflect a broader reach and global presence. it remains the only national charity focused on a cure, and has since raised $15 million for 50 research projects and clinical trials around the world, including gene therapy, gene editing, and stem cell research.

semi-retired from the organization, davidson continues to contribute and keep jesse’s legacy alive by making guest appearances and as a speaker on the circuit. looking back at his and jesse’s journey, he says, “you just look in the mirror and you say, ‘what wouldn’t you do for your kids? nothing.’ then you just roll up your sleeves and you get out there and try your best. even though jesse’s not here, the clock’s still running for somebody else. that’s why i keep trying to help out in any way i can.”

don’t miss a thing: sign-up for healthing’s newsletter

thank you for your support. if you liked this story, please send it to a friend. every share counts.