WHAT’S WRONG WITH CONNER?
118 | May• 2019
“Pleasespeakwithmydaughter-in-
law,”shebegged.
ThedirectorphonedHollieand
saidsheshouldcallDrEmilyde
losReyes.“She’stheBattendis-
easeguru.”Notonlythat,butthe
Children’sHospitalhadaclinical
trialunderwaythat Conner might be
abletoenrolin.
ACASE
UNLIKEANY
OTHER
GrowingupinMa-
nila inthe Philip-
pines,Emilydelos
Reyeshadtwocareer
choices.“Allthewom-
eninmyfamilywere
teachersordoctors,”
shesaid.Herfamily
waswelloff,sothey
didn’tfeelthe most
acuteeffectsofthe
Philippines’ wide-
spreadcorruptionand
privation.Whenshewenttomedical
school,however,shewitnessedsocial
illsfirsthand.OnSundayafternoons,
shehelpedcareforchildreninpoor
partsofthecity.Hundredsofkids
wouldqueueup– somewithparents,
someontheirown.Theexperience
stayedwithdelosReyesasshepur-
sueda careerinpaediatrics.
Aftergraduating,shemovedto
SanFrancisco,thentoWestVirgin-
iawhereshemeta localdoctor, who
soon became her husband.
Dr de los Reyes decided to
specialiseinpaediatricneurolog y,
andeventuallywasrecruitedtowork
asa neuro-developmentalspecialist
attheUniversityofArkansas.
Itwasthere,in2001,thatshesawa
caseunlikeanythingshe’devertreat-
ed.Anine-year-oldgirlwho’dbeen
born healthywaslosinghereyesight.
Herfamilywasfrom
Guam– anislandin
the Western Pacif-
ic.They’dtravelled
more than 11,000
kilometres for the
appointmentatthe
hospital,whichthey’d
learnedhadexcellent
eyespecialists.The
parentsdescribeda
constellationofother
symptoms: speech
delay,seizures,and
difficultywalking.
Tests ruled out
maculardystrophy,a
geneticconditionthatdestroyscells
intheretina,keratomalacia,a severe
deficiencyofvitaminAthatcaus-
esblindness,andabraintumour.
Stumped,DrdelosReyescalledDr
PaulDyken,anexpertinchildhood
braindisorders.Aftershespelledout
everythingshe’dlearned,DrDyken
letouta heav ysigh.
Thelittlegirlhadaconditionso
rarethatmostpaediatricianshadn’t
heardofit.Ifshewaslucky,DrDyken
said, the girl would live to be 20. DrTheparents
described
symptoms
including
speechdelay,
seizures
and
difficulty
walking