WHAT’S WRONG WITH CONNER?
116 | May• 2019
medication and, by the time of his
follow-up appointment in February
2016, he’d been seizure-free for three
months.
The good news didn’t last long. An
MRI revealed that Conner’s cerebel-
lum, the part of the brain responsi-
ble for balance and coordination, was
unusually small. They would need to
run more tests.
The doctors were
able to work out that
Conner didn’t have
cerebral palsy – but
little else. By May, the
seizures were back
and worse than ever.
“He was standing be-
side his wooden train
table and fell and
smashed his face on
it,” Hollie said of one
attack. His doctors
increased his medi-
cation. It didn’t work.
Hollie and Jeff were
exhausted and frustrated. Conner’s
life, and theirs, had been upended
by a medical riddle.
The Beishes didn’t think the
seizures had anything to do with
Conner’s speech delay. He still had
a small vocabulary, though some
words weren’t exactly right: “Moo”
was cow, for example, and “meow”
was cat. He knew his colours, too, es-
pecially red, green and blue. One day
in August, a few weeks after lightning
struck the Beishes’ house, Hollie and
Conner were working on a jigsaw
puzzle. “What colour is this?” Hollie
asked, holding up a blue piece. Con-
ner stared at her. “He was looking at
me like, what do you want me to do?”
Hollie recalled. Blue was the first
word Conner lost.HORRIFYING DIAGNOSIS
Soon after the Beish-
es moved back into
their home, Conner
was hospitalised
twice for tonic-clonic
seizures, marked by
a loss of conscious-
ness and violent limb
contractions. Doctors
diagnosed him with
a form of childhood
epilepsy. For Hollie,
it was comforting to
have an answer.
Conner had just
turned four. As he
headed into his sec-
ond year of preschool, he took var-
ious combinations of anti-seizure
medications as his doctors tried to
find a cocktail that worked. Some-
times he would scream when he
couldn’t remember a word for some-
thing, which seemed to happen more
and more often. His legs began trem-
bling when he walked.
That autumn, a blood test found
that Conner might be missing an
essential enzyme called tripepti-
dyl-peptidase1 (TPP1). A secondShock had
quickly
morphed
into anger.
Why had
it taken
nearly 16
monthsto
get the right
answer?