Reader\'s Digest Australia - 05.2019

READER’S DIGEST

May• 2019 | 121

dren’s hospital in Ohio participate.
However, the ethics board and re-
search coordinators from the hos-
pital had concerns. Delivering an
enzyme directly to a child’s delicate
brain had never been done before,
and it was a scary prospect. “Even
with rare diseases where children are
dying, we don’t want to hasten their
death,” Dr de los Rey-
es explained.
She invited the hos-
pital’s decision-mak-
ers to her clinic to
meet children with
Batten disease. Some
had never seen an
aff licted patient. By
the end of the tour,
one of the research
directors was crying.
“Emily, we want to
help,” she said. Need
was weighed against
risk, and the hospi-
tal’s participation in
the trial was approved.
Three children were enrolled at
the Ohio site. One by one, starting in
December 2014, they had catheters
and ports inserted into their skulls.
After that, Dr de los Reyes used the
surgical implants to administer the
infusions.
Weeks passed, then months. None
of the three children got sicker. They
maintained their motor skills or even
made gains. “They were acquiring
new words, which is so important,”

said Dr de los Reyes. “They could tell

their family what they wanted.”

The first trial results weren’t

released until March 2016. On av-

erage, participants’ clinical decline

was 80 per cent slower than expect-

ed during the first 48 weeks of treat-

ment. In nearly two-thirds of cases,

the disease stabilised. Batten disease

effectively had been

halted in its tracks.

News of the results

reached the Beishes

in late January 2017.

Hollie immediate-

ly called Dr de Dr

los Reyes and left a

message: She wanted

Conner in the trial.

When Dr de los

Reyes called back, she

offered to evaluate

Conner as soon as the

Beishes could get him

to Ohio. On March

12, 2017, Hollie, Jeff

and Conner piled into the family’s

SU V for the eight-hour drive through

snow and slush for an appointment

the next day.

AG ON ISI NG WA I T

In the examination room, Conner sat

on a narrow green table, a sippy cup

in one hand. When Dr de los Reyes

came in, Hollie was struck by how

tiny she was – scarcely 1.5 metres tall.

“Hi, Conner,” said Dr de los Reyes.

“You’re holding that cup very well!”

Hollie

immediately

called Dr de

los Reyes

andleft a

message:

she wanted

Conner in

the trial