Reader’s Digest Australia & New Zealand – May 2019

READER’S DIGEST

May• 2019 | 117

bloodtestwouldconfirmifConner

hadararegeneticdisordercalled

Battendisease.Althoughthedoctor

advisedHollienottolookanything

upontheinternet,shedidassoonas

shehungup.

Whatshesaw was horrifying.

BeingbornwithoutTPP1enzyme

wasa slowdeathsentence.Aspeech

delayisoftenthefirstnoticeable

signofthedisease.Afterthatcome

seizures,languageregression,motor

dysfunction,andblindness.Patients

diebetweentheagesofeightand12.

Therewasnocureandnotreat-

ment.Holliesawvideosofkindergar-

ten-agechildrenunabletospeakor

controltheirlimbs.Shebegantosob.

Asautumnturnedtowinter,Con-

nerstoppedrunningaroundwithhis

brother,andhecouldbarelyspeak.

Hedevelopedtremorsinbothhands.

Holliehadtoholdhiscupwhenhe

drank.ByDecember,Connerhad

tograsponeofhisparent’shands

towalk.Hollieemailedthedoctors

andrequestedthatifthenewsfrom

thebloodtestwasbad,nottodeliv-

eritbeforeChristmas.Shewanted

theholidaystobehappy.Asa giftfor

Conner,theBeishesadopteda yellow

Labradorretriever namedJoy.

O

NJANUARY19,2017,Hol l ie

called the doctorsforan

update.Itturnedoutsome-

onehadputConner’stestresultsin

thewrongpartofhischart.Adoctor

would call with answers the next day.

Hourspassedthefollowingday.As

thesunwassetting,theBeishessat

sidebyside,Hollie’sphoneclenched

inherhand.Finallyit rang.

“I’msorryI couldn’tcallearlier,”

thedoctorsaid.“But...”Shepaused.

Connerwasmissingtheenzyme

TPP1.“HehasBattendisease,”the

doctorsaid.

“OK,”Holliesaidweakly.Jeffheld

hishandsupina gesturethatseemed

toplead,tellmewhat’shappening.

Holliecouldbarelyhearwhatthe

doctoronthephonesaidnextabout

Conner’sdiagnosis.Shockhadquick-

lymorphedintoanger.Whyhadit

takensolong–nearly 16 months

sinceConner’sfirstseizure– toget

therightanswer?

“We’dlikeforyoutocomeintothe

officetodiscussit further.”

“That’sOK,”Hollieinterrupted.

“I’mnotinterested.I’dliketofinda

newdoctor.”Thenshehungupand

toldJeff.Togethertheycried.

Thenextday,Holliefoundherself

strangelyinvigorated.“Allofour

questionsandthewonderingwere

justgone,”shesaid.“Nowit became:

‘whatcanwedotohelpConner?’”

TheBeishesreadaboutvarious

hospitalsandspecialists. “Itwas

timetofinda doctorwhoknewwhat

thisdiseasewas,”Holliesaid.Their

familiesbeganresearching,too.Jeff’s

motherreadabouttheBattenDisease

SupportandResearchAssociation,

anetworkforfamilies, and called

its director.