is no closer to understanding her
condition. “It’s hard to put into words the
frustration at this point,” she says. “It’s
very disappointing to seek out answers
and not be able to find a shred of what’s
causing this – just something to provide
relief and help me with quality of life.”
Shashi says that the team is realistic
with patients. “We tell them their
chances are not great,” she says. “It’s
very stimulating when you do find an
answer. But that’s what drives us, to try
to solve these most difficult situations.”
A common refrain among patients
applying for the UDN is that they “want
their old life back”. Whatever their
condition, chances are it has robbed
them of their health, their mobility, the
chance to play with their children, the
chance to follow the career they wanted.
Jackie Boyd, 27, is one such patient.
Around 2013, she began experiencing
numbness in her hands which rapidly
spread to other parts of her body. “It
felt like sitting on your hands and them
being numb,” she says. “I thought
‘maybe I slept wrong’ but it lasted for
weeks, then months.” Boyd rapidly
developed ataxia, a loss of muscle
control and balance. Her doctor
prescribed pills that didn’t seem to work.
She saw a neurologist who essentially
told her there was nothing wrong.
The same year, she began a new job
as a prison officer. One day, a colleague
noticed her struggling to move upstairs
to check on prisoners, and eventually
she was relocated to a smaller, single-
storey facility, where she was givena position in administration. The job
change was a blow, but what bothers
her most is finding it difficult to play
with her eight-year-old son. Although
Boyd is able to walk with difficulty, she
typically uses a wheelchair.
“My son is sometimes sad,” she says.
“I can’t push him to do things now, I get
up to play sports with him and I’m tired.
It’s hard. My son worries about me more
than I wish he had to. If he hears me fall
down at home, he will call out: ‘Are you
OK mom? Did you fall down?’ I tell him
that I’m OK. Sometimes I’m not, but I’m
fine enough. I don’t want him to worry
about me, it’s not his job.”
Boyd was referred to the UDN in April- At first the team thought that
she had genetic ataxia, a condition
associated with progressive loss of
co- ordination. However, the neurologist
Dr Vern Juel noticed symptoms that
were consistent with a rheumatological
disease called Sjogren’s syndrome. And
this led to an antibody test.
“She had one of the antibodies
associated with Sjogren’s disease,
but she didn’t have the full repertoire of
what one would expect with Sjogren’s,”
Juel explains. Sjogren’s disease can
present with extreme fatigue, joint
swelling and stiffness – symptoms
that matched Boyd’s condition. The
anomaly was that Boyd did not display
the dry eyes or mouth more commonly
associated with the condition.
“One of the great things about this
being a UDN case is if I had seen the
patient on my own, the first thing I would
have wanted her to do would be to see a
neurologist, and that could take another
month or two,” says rheumatologist
Dr Rebecca Sadun, who also worked
on Boyd’s case. “I think this collabo-
ration is crucial; I actually read over the
notes of an external rheumatologist who
also thought this was a likely case of
Sjogren’s but didn’t have the advantage
of being able to talk to a neurologist, so
was mostly focusing on the patient’s
joint symptoms as a solo issue, and not
as part of a larger disease.”
While initial testing pointed in the
direction of Sjogren’s, Boyd needed to
return to Duke for additional testing to
confirm the diagnosis. On July 9, she is
back for a lip biopsy, designed to look for
evidence of inflammation of the salivary
glands, a hallmark of Sjogren’s.
“Sometimes, when people are told
there’s nothing wrong with them, they
just accept it, stay home and get worse,”
Boyd says from the examining chair
while she waits for a numbing cream
to take effect on her lip. “It’s been six
years and my body has been getting
worse. You think ‘What if it’s this, or what
if it’s that?’ I don’t have anything to lose
by coming [to the UDN]. At this point, I
still want to know what this is, I want to
know how long I have left to do certain
things independently. I want to be able
to make some kind of plan for my son.”
As the numbing cream takes effect,
the doctor returns and removes an
inch-long sliver of tissue from the inside
of Boyd’s lower lip before stitching the
wound up. The following day she is
scheduled for a lumbar puncture in
order to test her cerebrospinal fluid. It
is a notoriously painful procedure, but
should be Boyd’s last at the UDN.
“She’s a work in progress,” says
Sadun. “But we have a working theory
and we’re hopeful that [after these
tests] we can make that diagnosis and
get her started on therapy.Below: Blood samples are collected to be reverse-engineered into stem cells – a “blank slate with all a patient’s genetic information”‘MOST
PATIENTS
TELL US
THEY
DON’T
EXPECT
ANSWERS ’12911-19-FTUndiagnosedDiseases.indd 143 10/09/2019 06:42