READER’S DIGESTMay• 2019 | 117blood test would confirm if Conner
had a rare genetic disorder called
Batten disease. Although the doctor
advised Hollie not to look anything
up on the internet, she did as soon as
she hung up.
What she saw was horrifying.
Being born without TPP1 enzyme
was a slow death sentence. A speech
delay is often the first noticeable
sign of the disease. After that come
seizures, language regression, motor
dysfunction, and blindness. Patients
die between the ages of eight and 12.
There was no cure and no treat-
ment. Hollie saw videos of kindergar-
ten-age children unable to speak or
control their limbs. She began to sob.
As autumn turned to winter, Con-
ner stopped running around with his
brother, and he could barely speak.
He developed tremors in both hands.
Hollie had to hold his cup when he
drank. By December, Conner had
to grasp one of his parent’s hands
to walk. Hollie emailed the doctors
and requested that if the news from
the blood test was bad, not to deliv-
er it before Christmas. She wanted
the holidays to be happy. As a gift for
Conner, the Beishes adopted a yellow
Labrador retriever named Joy.O
N JANUARY 19, 2017,Hol l ie
called the doctors for an
update. It turned out some-
one had put Conner’s test results in
the wrong part of his chart. A doctor
would call with answers the next day.Hours passed the following day. As
the sun was setting, the Beishes sat
side by side, Hollie’s phone clenched
in her hand. Finally it rang.
“I’m sorry I couldn’t call earlier,”
the doctor said. “But ...” She paused.
Conner was missing the enzyme
TPP1. “He has Batten disease,” the
doctor said.
“OK,” Hollie said weakly. Jeff held
his hands up in a gesture that seemed
to plead, tell me what’s happening.
Hollie could barely hear what the
doctor on the phone said next about
Conner’s diagnosis. Shock had quick-
ly morphed into anger. Why had it
taken so long – nearly 16 months
since Conner’s first seizure – to get
the right answer?
“We’d like for you to come into the
office to discuss it further.”
“That’s OK,” Hollie interrupted.
“I’m not interested. I’d like to find a
new doctor.” Then she hung up and
told Jeff. Together they cried.
The next day, Hollie found herself
strangely invigorated. “All of our
questions and the wondering were
just gone,” she said. “Now it became:
‘what can we do to help Conner?’”
The Beishes read about various
hospitals and specialists. “It was
time to find a doctor who knew what
this disease was,” Hollie said. Their
families began researching, too. Jeff’s
mother read about the Batten Disease
Support and Research Association,
a network for families, and called
its director.