Tubes keep our girl alive; Struggling family’s windfall; My mum fits through a tennis racket; Boy gone wild
Like many young girls, Ava-Grace Makasini is obsessed with Queen Elsa from the movie
Frozen and loves nothing more than dancing about in her flowing blue dress.
The gorgeous toddler – who lives in Auckland’s Manukau City with her parents Helen and Kali Makasini, and big sister Ariella – seems like any other three-year-old, brimming with energy and chatter. But in Ava-Grace’s case, appearances are deceiving.
“Ava-Grace looks like a normal little girl on the outside,” explains mum Helen. “But on the inside, all her plumbing is wrong.”
Underneath the satin skirts of her Elsa costume is a small pouch that contains the four tubes Ava-Grace needs to sustain her life – they feed her nutrients, take away waste and provide her with medication.
The bright young girl has a rare and life-threatening condition known as megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS). It’s a congenital defect that causes some internal organs to form improperly – in Ava-Grace’s case, her bladder, bowel and intestines.
While its prevalence is unknown, MMIHS has been documented in medical history around the world only 230 times and more than 70% of diagnosed babies are female.
Since Ava-Grace was born, she has endured 20 major surgeries, mostly to connect her stomach to her bowels so she can process food and not rely on a feeding tube. Yet despite spending more than half of her short life in hospital, she continues to defy the odds. More than 70% of children with MMIHS do not live long enough to celebrate their first birthday.
“Ava-Grace is strong alright,” laughs dad Kali. “She’s king of the castle around here.”
The first inkling Helen and Kali, both 27, had that something was wrong was at their 20-week pregnancy scan. A radiographer noticed their baby’s bladder wasn’t emptying properly.
“I remember getting ‘that look’,” recalls Helen. “They told us there was something wrong and all I could ask was, ‘Is she going to die?’”
The pair were referred to a specialist at Auckland Hospital and given a list of possibilitiespossibilitie – the worst of which was MMIHS. “We were told that if she had MMIHS, she’d probably be stillborn,” remembers Helen, watching Ava-Grace running outside with seven-year-old Ariella and their cousins.
“We were offered the chance to terminate, but we said no. By then, I could already feel her moving inside of me.”
Crane driver Kali adds, “We knew life would be hard, but we weren’t going to play God.”
From day one, Ava-Grace has proven the doctors wrong. Despite her parents being told she would likely not survive birth, she came out bellowing. “Ava-Grace is feisty and has a strong will – it is just the way she’s built,” says Helen.
Operated on just one day after she was born, her parents were told once more to expect the worst. Again, the resilient girl rallied – and has continued to fight ever since.
But while Ava-Grace’s health is stable for now, the young girl’s future looks bleak. It is rare for kids with MMIHS to reach adulthood and many die of organ failure, infections or malnourishment.
“We don’t think about death and we don’t talk about death,” insists Helen. “The doctors have mentioned it, but my answer is always the same: ‘No, I’m not going to believe that. Ava-Grace will pull through.’”
Helen and Kali have been told their girl’s best chance is a bowel transplant. With support from the Immune Deficiencies Foundation of New Zealand/ Kids Foundation, the family is fundraising on Givealittle to get her to The Royal Children’s Hospital in Melbourne for an assessment.
While the idea of an organ
transplant frightens Helen and Kali, they say they’ll do whatever it takes to see Ava-Grace grow up. Though their daughter is believed to be one of only two children in Aotearoa with MMIHS, there have been good results overseas following transplants.
Last year, a Texas toddler with the disorder made medical history after successfully receiving eight donated organs, including a liver, stomach, large and small bowels, pancreas, two kidneys and a bladder.
For the Auckland family, it’s been a tough few years, but they’ve got through with the support of their church and extended family. “We have held on to our faith a lot since Ava-Grace was born,” asserts Helen. “It brings us peace to know that whatever happens, she will be OK.”
And after spending so much time in hospital, Helen is determined to train as a nurse. “Seeing how hard life can be for so many kids, it amazes me how strong they are,” she says. “My dream now is to be a nurse. I have such a heart for all the kids out there who are struggling.”
As for their precious AvaGrace, they’re wanting to give her the best chance at life. “It has been a long journey so far for us as a family,” reveals Helen. “But Ava-Grace has defied the odds so far and we have to believe she’s strong enough to keep going.”
Dad Kali, mum Helen and big sis Ariella are keeping the faith for Ava-Grace. Ava-Grace’s bladder, bowel and intestines didn’t form properly and she’s already endured 20 major surgeries. “On the inside, all her plumbing is wrong,” says her mum.
Doctors said this wee Frozen fan wouldn’t survive, but she won’t “Let it Go” and keeps on battling!