READER’S DIGEST
May• 2019 | 119de los Reyes could help her die a slow,
inevitable death as painlessly as pos-
sible – nothing more.
It was the first Batten disease case
that she had seen. First identified by
British physician Frederick Batten
in 1903, the disease is caused by a
glitch in the body’s nervous system.
Brain cells produce waste, but Bat-
ten disease sufferers
lack certain enzymes
or proteins required
to process it. Eventu-
ally, the cells become
clogged and die.
There are 14 sub-
types. The Guam
girl’s subtype was
CLN3, indicated by a
protein missing from
cellular membranes.
Explaining a fa-
tal illness to parents
who’d travelled thou-
sands of kilometres,
armed with faith in
doctors’ abilities to help their daugh-
ter, “was one of the hardest things
I’ve ever had to do,” Dr de los Reyes
recalled.
Emily de los Reyes diagnosed
several more cases in Arkansas before
being recruited to a children’s hospi-
tal in Ohio. As the head of the neuro-
developmental department, she
turned the hospital into a hub for
Batten disease research and patient
care. Families travelled from around
the world for appointments with her.
Dr de los Reyes was proud of her
work, but the script she recited to
parents was excruciating: there is no
cure. Your child will die. She advised
them to spend as much time as they
could with their sick kids. She prom-
ised to support them with medica-
tion, physical therapy and walking
aids. She hoped that things would be
different one day.UNRAVELLING
A DISEASE
While Dr de los Reyes
was delivering tough
news to her patients,
Peter Lobel and Da-
vid Sleat were hard
at work in a lab at a
university in New Jer-
sey. During the late
1990s, the two scien-
tists isolated the TPP1
enzyme – missing in
children with Batten
subtype CLN2 – and
demonstrated its role in processing
cellular waste. Their research led to
a new hypothesis: children missing
TPP1 should get better when given
the enzyme.
Lobel and Sleat replicated the
missing enzyme in mice and
administered lab-made TPP1. Young
mice didn’t develop signs of Batten
disease. Older subjects with severe
symptoms experienced only mild
gains. Early treatment, the research
confirmed, was crucial.The script
she recited
to parents
wa s e x-
cruciating:
there is
no cure.
Your child
will die