122 | May• 2019
She was soon joined by an occu-
pational therapist, two physiothera-
pists, and a speech pathologist. They
examined Conner, watched him take
a few assisted steps and listened to
his strained speech. They peppered
Hollie with questions.
When the examination was over,
Dr de los Reyes said the trial was
closed. Hollie’s heart sank. The
Beishes would have to wait for the
treatment to get approval from the
Food and Drug Administration
(FDA). The doctor was hopeful that
that would happen soon.
BioMarin had filed for rapid
assessment of Brineura the previ-
ous year. On one hand, the enzyme-
replacement study had a small num-
ber of participants and a limited time
frame. No one had any idea how TPP1
infusions would affect a child
two or five or ten years into
treatment. On the other hand,
Brineura targeted a fatal dis-
ease and had positive early
results.
The FDA would weigh all
these factors in its ruling, Dr de
los Reyes told the Beishes. In
the meantime, she prescribed
Conner leg braces, a gait train-
er, and adjustments to his sei-
zure medications. The Beishes
went home to wait and hope
for good news – yet again.
Before long Conner lost
one of his last words. “When
I picked him up from school,
he would say, ‘Me! Me! Me!’” Hollie
explained. As his disease got worse,
he had stopped repeating his word
for her. Finally, in the spring of 2017,
he stopped entirely.
“I picked him up, and he smiled.
But he didn’t say ‘Me’,” Hollie recalled.
“He never said it again.”APPROVAL, AT LAST
On the morning of April 27, 2017,
Hollie was in her car when Dr de los
Reyes called her. “Brineura was just
granted approval,” the doctor said. It
was the first time the FDA had giv-
en its blessing to any sort of Batten
disease care. The rapid decision was
based largely on trial data showing
kids with CLN2 who received Brineura
were able to walk better.
If the Beishes wanted, Dr de losHollie and Conner, a month before his
first treatment in 2017