Reader’s Digest Australia & New Zealand – May 2019

READER’S DIGEST

May• 2019 | 119

delosReyescouldhelpherdiea slow,
inevitabledeathaspainlesslyaspos-
sible– nothingmore.
ItwasthefirstBattendiseasecase
thatshehadseen.Firstidentifiedby
BritishphysicianFrederickBatten
in1903,thediseaseiscausedbya
glitchinthebody’snervoussystem.
Braincellsproducewaste, but Bat-
tendiseasesufferers
lackcertainenzymes
orproteinsrequired
toprocessit.Eventu-
ally,thecellsbecome
cloggedanddie.
Thereare 14 sub-
types. The Guam
girl’s subtype was
CLN3,indicatedbya
proteinmissingfrom
cellularmembranes.
Explaining a fa-
talillnesstoparents
who’dtravelledthou-
sandsofkilometres,
armedwithfaithin
doctors’abilitiestohelptheirdaugh-
ter,“wasoneofthehardestthings
I’veeverhadtodo,”DrdelosReyes
recalled.
Emilydelos Reyesdiagnosed
severalmorecasesinArkansasbefore
beingrecruitedtoa children’shospi-
talinOhio.Astheheadoftheneuro-
developmental department, she
turnedthehospitalintoahubfor
Battendiseaseresearchandpatient
care.Familiestravelledfromaround
the world for appointments with her.

DrdelosReyeswasproudofher

work,butthescriptsherecitedto

parentswasexcruciating:thereisno

cure.Yourchildwilldie.Sheadvised

themtospendasmuchtimeasthey

couldwiththeirsickkids.Sheprom-

isedtosupportthemwithmedica-

tion,physicaltherapyandwalking

aids. She hopedthatthingswouldbe

differentoneday.

UNRAVELLING

ADISEASE

WhileDrdelosReyes

wasdeliveringtough

newstoherpatients,

PeterLobelandDa-

vidSleatwerehard

atworkinalabata

universityinNewJer-

sey.Duringthelate

1990s,thetwoscien-

tistsisolatedtheTPP1

enzyme– missingin

childrenwithBatten

subtypeCLN2– and

demonstrateditsroleinprocessing

cellularwaste.Theirresearchledto

a newhypothesis:childrenmissing

TPP1shouldgetbetterwhengiven

theenzyme.

Lobel andSleatreplicatedthe

missing enzyme in mice and

administeredlab-madeTPP1.Young

micedidn’tdevelopsignsofBatten

disease.Oldersubjectswithsevere

symptomsexperiencedonlymild

gains.Earlytreatment,the research

confirmed, was crucial.

Thescript

sherecited

toparents

wa se x-

cruciating:

thereis

nocure.

Yourchild

will die