Vim & Vigor - Spring 2020 - UVA - 52

52

It's kind of uncharted territory to
see what I can do next. -Liam Cornwall
dystrophy called limb-girdle MD, Dr. Jones
wasn't convinced. Thus, more genetic testing
followed. "Fortunately, genetic testing is less
expensive today," Dr. Jones says, "so if we
suspect a disease, we can send off a group
of tests at the same time to see if anything
comes back positive."

Hope on the Horizon

From this next round of DNA testing, Liam
received what he'd been hoping for: a precise
diagnosis. He had congenital myasthenic
syndrome, an inherited disorder that results
when both parents have abnormalities in a
gene called DOK7.
"Liam has a rare subtype of a rare disorder," Dr. Jones says. "Unlike limb-girdle MD,
which would progress to the point in which
Liam would get more impairments with
time, congenital myasthenic syndrome typically progresses to a certain point, but once
the patient reaches adulthood, they have
some stability in their muscles and no new
deficits develop."
So in this new discovery, there was relief.
"You never want to know that something
about you caused your son's disability," Pat
says. "But now we're not waiting for the other
shoe to drop; we know it's going to be OK."

SPRING 2020 VIM & VIGOR

In this new discovery, there was also
promise. Dr. Jones and Liam could now get
to work finding an effective treatment.
"Dr. Jones shared with me that I was the
first patient she'd diagnosed with this rare condition. So she and I would be going through
this together," Liam says. "She'd be researching
medical journals and getting input from her
colleagues who had patients with the disorder,
and I'd be able to give her my feedback. By
monitoring myself and my response to treatments, I could help educate her."
One of the medications Dr. Jones recommended for Liam quickly showed potential.
"By the third day of taking it, I was feeling
much stronger," Liam says. "So I decided to
see if I could stand. Instead of pushing off
with my arms, I stood completely on my own
with just my legs and was able to support
my whole body weight. I hadn't done that
in 14 years."
Rather than call, Liam decided to wait and
show Dr. Jones in person during his next
appointment. "I walked into the room, and
he had a huge smile on his face," Dr. Jones
recalls. "Then he pushed himself up to a
standing position out of his wheelchair and
said, 'Look what I can do because of you.' "
Dr. Jones credits precision medicine for
Liam's improvements. "Because of this precise
diagnosis," she says, "we have more opportunities to find a specific treatment that
may not affect the genetic mutation
directly but can have a major impact
on quality of life."
For Liam, the impact has been significant. He's no longer concerned about
what he might not be able to do in five
or 10 years. He's focused on what he
can accomplish now, from the little
things like lifting objects that used to
be too heavy or out of reach to bigger
goals like finding a full-time job helping others with disabilities.
"It's kind of uncharted territory to see
what I can do next," Liam says. *

IN THE GENES:
DNA Testing Brings
Peace of Mind
Virtually every human ailment
has some basis in our genes,
according to the National
Human Genome Research
Institute. The genetic roots of
many diseases have already
been identified, and new
discoveries are ongoing.
In the field of neurology,
these genomic discoveries
have given us greater insight
into rare neurological conditions, including genetic
movement disorders like congenital myasthenic syndrome.
As Liam Cornwall discovered,
genetic testing can be used to
confirm or rule out a diagnosis. It can help open the door
to more targeted and effective
treatments. But it can also
help predict the likelihood
of passing a condition on to
offspring.
This was important for the
Cornwall family, especially
for Liam's brother Devin.
"Through genetic testing, we
found out that my brother
Devin is a carrier of the DOK7
gene abnormality, one cause
of congenital myasthenic
syndrome," Liam says. "He
and his wife may want to have
children in the future, so it
was important for them to find
out. His wife isn't a carrier, so
now they know there's no possibility of their children having
this disability. If I hadn't been
tested, we would've never
known. DNA testing helped
more than just me."

What Can DNA
Testing Tell Us?
When a child isn't developing
properly, DNA testing can
reveal the reason why. Talk
to your child's doctor about
a referral to a UVA Children's
genetic counselor.



Vim & Vigor - Spring 2020 - UVA

Table of Contents for the Digital Edition of Vim & Vigor - Spring 2020 - UVA

Contents
Vim & Vigor - Spring 2020 - UVA - Cover1
Vim & Vigor - Spring 2020 - UVA - Cover2
Vim & Vigor - Spring 2020 - UVA - Contents
Vim & Vigor - Spring 2020 - UVA - 2
Vim & Vigor - Spring 2020 - UVA - 3
Vim & Vigor - Spring 2020 - UVA - 4
Vim & Vigor - Spring 2020 - UVA - 5
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Vim & Vigor - Spring 2020 - UVA - Cover3
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