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