WHAT’S WRONG WITH CONNER?
116 | May• 2019
medicationand,bythetimeofhis
follow-upappointmentinFebruary
2016,he’dbeenseizure-freeforthree
months.
Thegoodnewsdidn’tlastlong.An
MRIrevealedthatConner’scerebel-
lum,thepartofthebrainresponsi-
bleforbalanceandcoordination,was
unusuallysmall.Theywould need to
runmoretests.
The doctorswere
abletoworkoutthat
Connerdidn’thave
cerebralpalsy–but
littleelse.ByMay,the
seizureswere back
andworsethanever.
“Hewasstandingbe-
sidehiswoodentrain
table and fell and
smashedhisfaceon
it,”Holliesaidofone
attack.His doctors
increasedhismedi-
cation.Itdidn’twork.
HollieandJeffwere
exhaustedandfrustrated.Conner’s
life,andtheirs,hadbeenupended
bya medicalriddle.
The Beishes didn’t think the
seizureshadanythingtodowith
Conner’sspeechdelay.Hestillhad
asmallvocabulary,thoughsome
wordsweren’texactlyright:“Moo”
wascow,forexample,and“meow”
wascat.Heknewhiscolours,too,es-
peciallyred,greenandblue.Oneday
inAugust,a fewweeksafterlightning
struck the Beishes’ house, Hollie and
Connerwereworkingonajigsaw
puzzle.“Whatcolouristhis?”Hollie
asked,holdingupa bluepiece.Con-
nerstaredather.“Hewaslookingat
melike,whatdoyouwantmetodo?”
Hollierecalled.Blue was the first
wordConnerlost.HORRIFYINGDIAGNOSIS
SoonaftertheBeish-
esmovedbackinto
theirhome,Conner
was hospitalised
twicefortonic-clonic
seizures,markedby
alossofconscious-
nessandviolentlimb
contractions.Doctors
diagnosedhimwith
aformofchildhood
epilepsy.ForHollie,
itwascomfortingto
haveananswer.
Conner had just
turned four. As he
headedintohissec-
ondyearofpreschool,hetookvar-
iouscombinationsofanti-seizure
medicationsashisdoctorstriedto
finda cocktailthatworked.Some-
timeshewould screamwhenhe
couldn’tremembera wordforsome-
thing,whichseemedtohappenmore
andmoreoften.Hislegsbegantrem-
blingwhenhewalked.
Thatautumn,abloodtestfound
thatConnermightbemissingan
essentialenzymecalledtripepti-
dyl-peptidase1 (TPP1). A secondShockhad
quickly
morphed
intoanger.
Whyhad
it taken
nearly 16
monthsto
gettheright
answer?