Vim & Vigor - Spring 2020 - UVA - 51

here are times you may push your body
beyond its limits. You may run an extra
mile or lift something a little heavier
than you should. Because you know,
ultimately, what your body is capable of.
Twenty-seven-year-old Liam Cornwall,
of Culpeper, Virginia, does not. His body
has always been a bit of a mystery. Yet now,
it's a mystery he's one step closer to solving.
Liam was diagnosed with congenital
myopathy as a toddler after his parents,
Pat and Bruce, recognized he wasn't meeting age-appropriate milestones. They were
relieved to have an explanation for Liam's
funny crawl and delayed walking. But they
were also hopeful there would be a treatment.
"We thought perhaps there would be
drugs Liam could take that might help, but
there were none," Pat says. "With congenital
myopathy, you don't really know what it is,
so how can you treat it?"

51
a walker at that point, but after the surgery, it
was such a drastic change to my posture that
I moved to an electric scooter and then to a
power chair full time from then on."

Holding Pattern

There was always a touch of uncertainty when
it came to Liam's condition, especially early
on. But eventually, he reached a plateau.
He graduated from high school and went
on to Virginia Commonwealth University
in Richmond, where he earned a degree in
biomedical engineering. "I lived on my own.
I went to get groceries. I cooked my own
food. I lived pretty much independently, and
I really enjoyed that experience," Liam says.
A six-month fellowship in New Hampshire
would follow, where Liam worked for the
Center for Translation of Rehabilitation
Engineering Advances and Technology.
"TREAT Center advises their clients on how
to bring their rehab and assistive tech ideas
Destination Unknown
from paper to market," Liam explains.
As Pat and Bruce quickly discovered, congeni"We always pushed Liam to be indepental myopathy is a general diagnosis that can be
dent," Pat says. "He always got where he
applied to hundreds of neuromuswanted to go."
cular disorders present at birth. It is
Being in New Hampshire gave
characterized by lack of muscle tone
Liam the opportunity to work in
and weakness, which can progress
a field he was passionate about.
over time. Even though they had a
It also placed him in close proxname for Liam's disorder, there was
imity to a Muscular Dystrophy
still a lot of gray area. They didn't
Association clinic, where physiUVA neurologist
truly know how his condition would
cians specialize in diagnosing and
Sarah Jones, MD,
progress. They didn't know what the
treating all types of neuromuscular
credits precision
medicine for
future would be like for their son.
diseases. "I was having sciatic
Liam Cornwall's
"We were always waiting for the
nerve pain, so I decided I'd ask the
improvements.
other shoe to drop, always wonderMDA clinic if I could get in to see
"Because of this
precise diaging: When is it going to get worse?
an adult neurologist," Liam says.
nosis, we have
Is it going to get worse? Could it get
This new physician prescribed
more opportubetter?" Pat says.
steroid injections for his nerve
nities to find a
specific treatLiam's physical abilities did
pain, but the real game changer was
ment that may
decline, but slowly. As the muscles
that she also suggested Liam have
not affect the
in his body became weaker, the
genetic testing. "I knew DNA testgenetic mutation
directly but can
muscles in his back could no longer
ing had become more common, and
have a major
fully support his spine. Like many
I was excited to reopen my case to
impact on
people with this type of disorder,
see where we could go with getting
quality of life."
Liam developed scoliosis; he had a
a new diagnosis," Liam says.
60-degree curve in his spine that threatened
By the end of his fellowship and his time in
his lung and heart function. To correct his
New Hampshire, Liam's neurologist had ruled
posture, UVA Health orthopedic surgeon
out a couple of disorders, but he still didn't
Mark Abel, MD, recommended a spinal fusion, have a concrete diagnosis. Determined, Liam
which would limit Liam's mobility further.
returned home to Culpeper and reached out
It was a necessary fix, yet it was a difficult
to UVA, where he met with neurologist Sarah
turning point for Liam and his family. "It was
M. Jones, MD.
right around fourth grade when I had the spiUnlike his previous neurologist, who susnal fusion," Liam says. "I was able to walk with pected that Liam had a rare form of muscular
VIM & VIGOR SPRING 2020

Vim & Vigor - Spring 2020 - UVA

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