WHAT’S WRONG WITH CONNER?
118 | May• 2019
“Please speak with my daughter-in-
law,” she begged.
The director phoned Hollie and
said she should call Dr Emily de
los Reyes. “She’s the Batten dis-
ease guru.” Not only that, but the
Children’s Hospital had a clinical
trial underway that Conner might be
able to enrol in.
A CASE
UNLIKE ANY
OTHER
Growing up in Ma-
nila in the Philip-
pines, Emily de los
Reyes had two career
choices. “All the wom-
en in my family were
teachers or doctors,”
she said. Her family
was well off, so they
didn’t feel the most
acute effects of the
Philippines’ wide-
spread corruption and
privation. When she went to medical
school, however, she witnessed social
ills first hand. On Sunday afternoons,
she helped care for children in poor
parts of the city. Hundreds of kids
would queue up – some with parents,
some on their own. The experience
stayed with de los Reyes as she pur-
sued a career in paediatrics.
After graduating, she moved to
San Francisco, then to West Virgin-
ia where she met a local doctor, who
soon became her husband.
Dr de los Reyes decided to
specialise in paediatric neurolog y,
and eventually was recruited to work
as a neuro-developmental specialist
at the University of Arkansas.
It was there, in 2001, that she saw a
case unlike anything she’d ever treat-
ed. A nine-year-old girl who’d been
born healthy was losing her eyesight.
Her family was from
Guam – an island in
the Western Pacif-
ic. They’d travelled
more than 11,000
kilometres for the
appointment at the
hospital, which they’d
learned had excellent
eye specialists. The
parents described a
constellation of other
symptoms: speech
delay, seizures, and
difficulty walking.
Tests ruled out
macular dystrophy, a
genetic condition that destroys cells
in the retina, keratomalacia, a severe
deficiency of vitamin A that caus-
es blindness, and a brain tumour.
Stumped, Dr de los Reyes called Dr
Paul Dyken, an expert in childhood
brain disorders. After she spelled out
everything she’d learned, Dr Dyken
let out a heav y sigh.
The little girl had a condition so
rare that most paediatricians hadn’t
heard of it. If she was lucky, Dr Dyken
said, the girl would live to be 20. DrThe parents
described
symptoms
including
speech delay,
seizures
and
difficulty
walking