FAITH, JOY AND HOPE: meet Aus­tralia’s bravest sis­ters

The Australian Women's Weekly - - Contents - P H OTO G RAP H Y KRISTINA SOLJO

When sis­ters Maddy and Briella Luk were di­ag­nosed in utero with a rare ge­netic dis­or­der, their par­ents didn’t know if they’d live. Now, af­ter the tough­est year of their young lives, the girls are thriv­ing and, as they tell

Genevieve Gan­non, look­ing for­ward to com­ing home from hos­pi­tal for Christ­mas.

Up in Syd­ney’s north-west lives a lit­tle black dog named Mu-Shu who is about to be hugged within an inch of his life. Two of his ador­ing own­ers, Maddy and Briella Luk, haven’t seen him in al­most seven months and they’ve missed him dearly.

The sis­ters checked into The Chil­dren’s Hos­pi­tal at West­mead on April 18 to be­gin months of gru­elling, life-sav­ing treat­ment. Now, they are com­ing to the end of their jour­ney and ex­cite­ment about a re­union with Mu-Shu is build­ing. “He al­ways licks me,” says Maddy, eight. “She likes it when he kisses her,” Briella, ve, adds.

Maddy and Brielle were born with di­as­trophic dys­pla­sia, which af­fects their bones and car­ti­lage, and causes dwar sm. They also have kyphosco­l­io­sis – spinal cur­va­ture – which, if left unat­tended, would have crushed their lungs. Maddy had spinal fu­sion surgery in Oc­to­ber, and as this mag­a­zine hits the stands,

Briella is also un­der­go­ing the marathon op­er­a­tion, which could take up to eight hours.

The girls and their fam­ily hope that, af­ter spend­ing the best part of a year in hos­pi­tal, they will be able to have Christ­mas at home – and if they can, the rst thing Maddy and Briella will do is give Mu-Shu a big, ec­static hug.

They’re also look­ing for­ward to

“lots and lots of presents, dec­o­rat­ing the tree” and “a straw­berry and choco­late cake”. In­tense phys­io­ther­apy will be needed to help them re­cover from the op­er­a­tions but all go­ing well, Maddy will re­turn to school soon, and next year, Briella will start kindy. Af­ter a year of worry, life will re­turn to nor­mal for the Luk fam­ily.

“I think a lot of peo­ple would look at our lives and think we’ve had the worst year ever, and in some ways we have, but we have love and we have a fu­ture and what else can you want for your kids?” mother Nicole says. “For me, that’s some­thing that’s worth spread­ing and shar­ing. Peo­ple think, ‘I would never do that, I could never.’ But you do what you have to do.

“Even in this mo­ment now, af­ter six-and-a-half months in hos­pi­tal and the spinal fu­sion of one daugh­ter and the prospect of the other, I still feel and be­lieve that we are so lucky. We have a good life. We have a lot of rea­sons to recog­nise how blessed we are.”

The time in hos­pi­tal hasn’t been so bad, Maddy and Briella say, be­cause they’ve had each other. The girls are re­silient and sunny. They laugh eas­ily and of­ten. But the strain of such in­tense treat­ment is un­de­ni­able. Late in Oc­to­ber, Maddy moved out of their shared hos­pi­tal room into the neigh­bour­ing Ron­ald McDon­ald House with Nicole, and Briella found the tran­si­tion dif cult.

But the girls have bene ted from the com­mu­nity of sup­port around them. They are Jeans for Genes am­bas­sadors and love record­ing videos for the Chil­dren’s Med­i­cal Re­search In­sti­tute. They bounce and jump and gig­gle for the cam­eras.

Like all chil­dren, they can get frus­trated, and at times ask heart­break­ing ques­tions. On the eve of her fth birth­day, Maddy wanted to know: “When I wake up, will I be tall?” But the girls en­joy ad­vo­cacy work. The whole fam­ily, in­clud­ing older sis­ter Lana, 10, gets in­volved.

They do it, Nicole says, be­cause they want to show other fam­i­lies that a pre­na­tal di­ag­no­sis of a ge­netic ab­nor­mal­ity needn’t be a cause for fear. Since she and hus­band Bernard rst learned they were both car­ri­ers of the mu­tated gene that causes the girls’ dis­or­der, they have been con­fronted by prej­u­dice and cru­elty.

“We do it to of­fer hope to peo­ple who are ear­lier in a sim­i­lar jour­ney to say: It’s go­ing to be okay and yes, there are chal­lenges, but we’re do­ing al­right,” Nicole says.

A hid­den gene

The Luk fam­ily story starts, like many oth­ers, with a friend­ship that de­vel­oped into some­thing more.

“When I met Bernard, I had a Chi­nese friend and I thought, he’s a lovely boy and she’s a lovely girl. I was think­ing of set­ting them up,” Nicole laughs. For­tu­nately, Nicole’s friend had her eye on some­one else, and Bernard had his eye on Nicole.

In many ways, Bernard says, they’re a strange match. He’s quite lit­eral – “OCD, by the book”, he says – whereas Nicole is more “go with the ow”. But they share the same val­ues and out­look on life. “We’re so sim­i­lar on the things that mat­ter,” Bernard says, “our life goals; the way we look at things; what we think is right and wrong.”

They had one other cru­cial char­ac­ter­is­tic in com­mon – a re­ces­sive gene – but this wouldn’t sur­face for some years. They mar­ried at 23 and moved to Hong Kong, Bernard’s birth­place, and soon

Nicole dis­cov­ered she was preg­nant. Ex­cited, the ex­pec­tant cou­ple took them­selves off to the doc­tor for all the usual scans.

“I just viewed an ul­tra­sound as a chance to see a baby’s face,” Nicole says. “I didn’t think about the fact that they’re ac­tu­ally look­ing for things. You have the tests and you just as­sume every­thing will be ne.”

And every­thing was ne. Nicole gave birth to a healthy baby girl who the cou­ple named Lana, mid­dle name Joy.

Hav­ing their chil­dren over­seas had been part of the Luks’ plan. As a child born in Hong Kong to Aus­tralian par­ents, Lana would have the chance to hold two pass­ports. They wanted to give their chil­dren ev­ery head start in life within their power.

Lana was still a tod­dler when

Nicole fell preg­nant again. At 14 weeks, she went in for a scan. It showed a one in seven chance of the baby hav­ing Down syn­drome. They de­cided to in­ves­ti­gate fur­ther.

“I re­ally was quite ig­no­rant that it could be any­thing else,” Nicole says. “I guess it just wasn’t any­thing I’d re­ally thought about be­fore. There’s

“We have a lot of rea­sons to recog­nise how blessed we are.”

no fam­ily his­tory. Of course I knew that there were ba­bies born with dif­fer­ent things, but I hadn’t re­ally con­sid­ered the pos­si­bil­ity that it would hap­pen to me.”

Bernard and Nicole de­cided she would have an am­nio­cen­te­sis, but she had to wait un­til week 17 of the preg­nancy. For three weeks,

Nicole and Bernard sat with the news. “I did some re­search about Down syn­drome and I thought I would be okay with this. It’s still a healthy baby,” Nicole says.

They went back for an­other ul­tra­sound and al­most im­me­di­ately, the doc­tor was able to tell the baby didn’t have Down syn­drome.

“He started scan­ning and he said, ‘I can tell straight away there are ab­nor­mal­i­ties with the skele­ton. I can’t re­ally tell you more. I want to send you to a pre­na­tal di­ag­nos­tic spe­cial­ist who will have more in­for­ma­tion’,” Nicole says.

The next scan took al­most an hour, and the prog­no­sis was bleak. The spe­cial­ist told Nicole and Bernard that their baby had skele­tal dys­pla­sia, and that the dis­or­der may be lethal.

“In those sit­u­a­tions, the ribs don’t al­low enough room for the baby’s lungs to de­velop. There’s just not enough room for breath,” Nicole ex­plains. They were given the op­tion to ter­mi­nate the preg­nancy.

“It was quite trau­matic,” Bernard says. “I re­mem­ber the mo­ment when we came out of the doc­tor’s room and just try­ing to come to terms with that.”

Their col­leagues couldn’t un­der­stand why they would con­sider pro­ceed­ing with the preg­nancy. “Cer­tainly I had a lot of peo­ple at work say­ing, ‘Why didn’t you ter­mi­nate? I would have ter­mi­nated,’” Bernard says.

“The so­ci­ety in Hong Kong is very much, we want a per­fect baby. If it’s not per­fect we don’t want it. Ba­si­cally, the mes­sage was, I can’t be­lieve they let you keep the baby. It was very, very con­fronting.”

But the cou­ple had faith that their girl could over­come her prog­no­sis. They gured that, if they car­ried her to term and she didn’t sur­vive, the out­come would be no dif­fer­ent from a ter­mi­na­tion. They wanted to give her a chance at life. “There was still hope for a dif­fer­ent kind of happy baby,” Nicole says.

The med­i­cal spe­cial­ists couldn’t give them any sort of cer­tainty as to the health – or likely sur­vival – of their child, but the Luks had made up their minds. What fol­lowed were months of sleep­less worry.

“We didn’t know if we were plan­ning for a birth or a death, and that was one of the things we re­ally strug­gled with,” Bernard says. “Even though we knew the due date, we thought, do we get clothes? Do we pre­pare to bring a child home or do we nd a funeral home?”

A scan at 30 weeks re­vealed there was a strong chance their baby’s skele­tal dys­pla­sia was non­fa­tal, but un­til she was born and had to breathe on her own they wouldn’t know for sure. When Nicole’s labour started, the cou­ple just had one thought on their minds: We hope she breathes. Things could still have gone very badly.

Fol­low­ing the birth, their baby was slow to cry. There was a breathless mo­ment where all in the room waited for the sound. When it came, it was weak, but it was there. They named her Made­line, mid­dle name Hope.

Maddy Hope Luk was the rst baby to be born in Hong Kong with di­as­trophic dys­pla­sia. She had to stay in the in­ten­sive care unit for two weeks and have surgery to cor­rect her palate, but over­all she was a re­mark­ably healthy and ac­tive

“There was still hope for a di er­ent kind of happy baby.”

child. She our­ished, dou­bling the love in the Luk fam­ily home. Soon enough, Bernard and Nicole dis­cov­ered they were preg­nant again. This time, when they went for their scan, they had no fear.

“I re­mem­ber, we were stand­ing out­side and they gave us the re­sult and it said, yep, your third child would also be af­fected. We looked at each other and just said, ‘Bring it’.”

When Briella was born they gave her the mid­dle name Faith. “We walked the walk with Maddy,” Nicole says.

“We had the con dence and the faith we could get through it.”

Fight for the fu­ture

All three Luk sis­ters grew up very close, with Lana per­form­ing the role of play­ful and pro­tec­tive big sis­ter, and Maddy in turn do­ing the same for Briella. The phys­i­cal ther­apy Maddy went through paved the way for Briella’s treat­ment. But the dis­or­der that stunted their growth was also twist­ing their spines in dan­ger­ous di­rec­tions, so ear­lier this year, they en­tered hos­pi­tal for ‘halo trac­tion’ and spinal fu­sion surgery. The in­cred­i­bly com­plex op­er­a­tion car­ries a risk of com­pli­ca­tions and had been loom­ing for most of the girls’ young lives.

Pins were drilled into the girls’ skulls and at­tached to a weighted pul­ley that would gen­tly bend their spines back the right way. When Maddy un­der­went her spinal fu­sion surgery on Oc­to­ber 17, the sur­geon per­formed bone grafts and screwed ti­ta­nium rods in place. The pro­ce­dure went off with­out a hitch and the sur­geon told the Luks he needed a month to re­cover be­fore tack­ling the op­er­a­tion on

Briella. She is sched­uled to un­dergo the surgery in late Novem­ber.

Through­out every­thing, Maddy and Briella have con­tin­ued their work as am­bas­sadors for Jeans for Genes to raise money for the Chil­dren’s Med­i­cal Re­search In­sti­tute (CMRI), even record­ing a video for Jeans for Genes while in halo trac­tion. The sup­port of fam­i­lies such as the Luks has helped ma­jor break­throughs in gene re­search and gene ther­apy. Re­mark­ably, most of the CMRI’s fund­ing comes from pub­lic do­na­tions.

One in ev­ery 20 chil­dren will be born with ei­ther a birth de­fect or an in­her­ited dis­ease, says CMRI di­rec­tor Pro­fes­sor Roger Rid­del. Just this month, The Chil­dren’s Hos­pi­tal at West­mead (lo­cated next door to CMRI) started clin­i­cal tri­als for gene ther­apy to treat the cruel in­fant dis­ease spinal mus­cu­lar at­ro­phy.

“This is a par­tic­u­larly nasty dis­ease,” Pro­fes­sor Rid­del says. “They’re born nor­mally but start go­ing back­wards with their mile­stones. Sadly, many of the chil­dren are not with us by 15 months.”

The ther­apy is still re­garded as ex­per­i­men­tal, and will re­quire many years of ob­ser­va­tion, but Pro­fes­sor Rid­del says, “for con­di­tions like this, how could you not de­liver the ther­apy if you could. The ex­pec­ta­tion is that it will be cu­ra­tive. In­stead of a death sen­tence, there’s now gene ther­apy avail­able.”

Over­seas, strides are be­ing made in the de­vel­op­ment for di­as­trophic dys­mor­phia treat­ment.

“A lot of the treat­ment the girls are get­ting now was born out of re­search done years ago,” Bernard says. “Some of th­ese bene ts might not be di­rectly bene cial to our chil­dren. But we’re sow­ing the seeds for the fu­ture.”

A happy new year

When it comes to look­ing to the fu­ture, Maddy and Briella are no dif­fer­ent from other chil­dren their age. Maddy is dream­ing of eat­ing lol­lies and chicken nuggets when she is set­tled at home again, and Briella’s hopes are pinned on a “wa­ter party”, at which she will squirt peo­ple, but they can’t squirt her. Hatchi­mals and a talk­ing di­nosaur also gure in her plans for the sum­mer.

Their par­ents are just ex­cited to have their two pre­cious daugh­ters back home again. “Whilst we all feel enor­mous re­lief and grate­ful­ness that Maddy’s surgery was so suc­cess­ful, we still feel as though we are just hold­ing our breath un­til Briella’s surgery,” Nicole says. “We are get­ting to­wards the end of this enor­mous process, we will be so glad when it all is in the past.

It has been a hard year, but the fu­ture looks bright for the Luks – all three of their daugh­ters, and of course a dearly loved, lit­tle black dog named Mu-Shu.

CMRI re­lies on pub­lic do­na­tions to con­tinue its work. To sup­port it, visit cmri.org.au/wom­ensweekly

Left: The girls have al­ways been very close. Above: Maddy with lit­tle sis­ter Briella. Op­po­site: Lana with Maddy and Briella, wear­ing their ‘ha­los’.

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