Chat – 25 July 2019

Andnowmylad

is 21 – incredible!

Inever

misseda

chanceto

tellhim

I loved him

Healt

h

Still searching

Myboy wasthetwelfth

persontobediagnosed

with thisawful disorder...

RuthDalton,53,Rochester

PATIENT CASEBOOK

True

life

F

romthemoment
mysonSamuel
wasborn,hewas
alreadyfighting
theodds.
Weighingjust
5lb12ozwhenhearrived
inJuly1998,hewastiny.
Hehadclubfeetand
feedingproblems,too.
Atfourmonths,doctors
gavehima CTscan.
‘It’srevealedthatthere
area fewproblemswith
Samuel’sbrainstructure,’
a doctorexplained.
‘I’mafraidit’sunlikely
he’lllivepast3 yearsold.’
Devastating.
Myworldcrumbled.
‘What’swrongwithhim?’
I beggedthemedicalteam.
Buttheydidn’tknow.
Thatwasjustthestart
of a 17-yearstrugglefor
a diagnosisforSamuel.
I managedto getSamuel
a geneticist,booked
himphysiotherapy
appointmentsto help
withhismobility.
Mostimportantly,
I cherishedevery
momentwithhim.
‘I loveyou,’I’dsay
asI tuckedhimin
bedforthenight.
I nevermissed
a chanceto tell
himthat.Always
worriedthat
daymightbe
hislast.
When
hemadeit
to his
third
WORDS: EMMA ROSSITER. PHOTOS: WWW.4STEPSFORSAMUEL.COM

birthday,I panicked.

Butthenhisfourthbirthday

came,hisfifthandsixth...

AndbeforeI knewit,my

belovedboywas14.

Samuelhadmorethan

surpassedexpectations.

Yet,still,wewere

nocloserto getting

a diagnosis.

Thatwasuntil

2012,whenI got

a phonecallfrom

hisgeneticist.

She’dheard

abouta new

studylookinginto

raredisorders.

‘I’dliketo put

Samuelforwardforit,

if that’sOK?’shesaid.

‘Ofcourseit is!’I replied.

Wesentoffswabsof saliva,

followedbybloods.

Allwecoulddowaswait.

It tookthreeyearsbeforethe

resultscamethrough.

‘SamuelhasBainbridge-

Roperssyndrome(BRS),’his

geneticistexplained.

BRSis a veryrare

geneticdisorderthat

comesaboutfrom

a changeinthe

ASXL3gene.

It’scharacterised

byfeedingissues,

severeintellectual

disabilitywithpoor

orabsentspeechand

poorgrowth.

Finally,

everything

made

sense.

We

had a

bel

orSamuel’s

ondition.

But,atthesame

time,it wasa hollowvictory.

BRSis soincrediblyrare

thatSamuelwasonlythe

twelfthpersonto bediagnosed

withit intheUK.

Therewerenotreatments,

nocuresavailable.

Notevenso

muchasanarticle

onlineformeto

understandwhat

thismeant.

Wehadnoidea

whatthefuture

mighthold.

SoI triedsome

differentavenues.

Joininga

Facebookpagefor

support,I wasable

to connectwithothermothers

goingthroughthesamething.

It wasniceto knowwe

weren’tsoalone,afterall.

Despite the condition being

morecommonintheUSA,it

wasstillincrediblyrare.

That’swhyI startedworking

withcharitieslikeGenetic

AllianceUKto raiseawareness

andfundsintoresearch.

Samuel’shada fightonhis

handsfromtheverybeginning.

Thinkingback,I can’thelp

but wonder‘whatif ’...

Whatif doctors

hadknownabout

thiscondition?

Whatif there

wasa cure?

There’sa million

thingsthatcould

bedifferent.

I hopethatone

day,othermothers

won’thaveto wait

aslongasI didfor

someanswers.

ThatkidslikeSamuel,now

21,getgivena realchance.

It’stheleasttheydeserve.

lFormoredetails,visit

geneticalliance.org.uk

18

Hisfirst

birthday...

Wewaited 17 yearsfor

Samuel to be diagnosed

HEALTHY FACTS +++ Nine out of 11 pregnancy-test kits can give false results, says Washington University