It took less than a year for La Toya and Cameron to meet, fall in love, and then fall pregnant with their first child. After welcoming a healthy baby boy in 2021, the Queensland couple decided to try for a sibling – and quickly fell pregnant again.
But when their little girl, Luna, was born last December, La Toya and Cameron’s world turned upside down after she was diagnosed with a rare genetic disorder.
“My pregnancy with Luna was rough. Diagnosed with gestational diabetes at 8 weeks, on insulin from then and ended up on 52 units by the end of it. During my pregnancy we had numerous scares, down syndrome, club foot, measuring too small… but all was resolved by more testing or a follow-up scan,” shares La Toya, a member of the Mum’s Grapevine Summer 2022/23 Due Date Group.
“The doctors even said at one point because of my ‘belly fat’ they were unable to get clear scans. But I was told I was having a healthy baby. I always felt like something wasn’t right with her and if I’m being honest, I thought she wasn’t going to be born alive. At 37 weeks the doctors sent me to the hospital for monitoring as my fasting glucose levels had never been under control and I was measuring big and had a huge belly. They did an ultrasound where they found I had polyhydramnios (a condition where there is too much amniotic fluid surrounding the baby). When she was delivered a few days later, over a litre of fluid came out and the doctor told me I was pretty much drowning her and she may not have made it if they didn’t deliver when they did. Mind you, I had been asking the doctors since 30 weeks to book me in for a c-section because of concerns about my glucose fasting levels never being under control, even though I was on so much insulin, as well as her movements being so irregular in my belly.”
While La Toya felt calm and relaxed during her c-section, as soon as Luna was born it became clear her hunch that something wasn’t right turned out to be true.
“When she was born she was limp, needed CPAP support to breathe and was rushed straight to the nursery. They stitched me up and sent me to recovery and it was 2 hours until I got to be with my little girl.
“I didn’t get to hold her until she was 36 hours old, when they removed all support from her, but in my arms she went downhill fast and she was back onto CPAP to support her breathing. At this stage, the paediatricians assessed her where they found a heart murmur, weak pulse in her groin and she was still floppy. They rang Brisbane and asked whether she needed to be there and they agreed that she did. Within the hour she was on a helicopter and sent to Mater Mothers NICU. As I was unable to travel with her, me & my partner went home, grabbed some belongings, and drove three hours to be with our little girl, while our toddler stayed home with family.”
‘1 in 300 people in the world’
“The ASD was quite large and they believed it wouldn’t close up over time. They also believed she had a syndrome as some of her features were dimorphic and they believed she didn’t look like either of us, and she was floppy. They tried weaning her off CPAP and onto high flow oxygen, but after 24 hours her lungs were under stress and she had to go back onto CPAP.
“We were in NICU for 38 days where they did genetic testing and found 2 genetic abnormalities, including a deletion on chromosome 9 causing a rare genetic disorder called Kleefstra Syndrome. Our little lady is 1/300 in the world with this rare genetic disorder. They also discovered a mutation on chromosome 12, which they don’t know anything about and as we found out later in our journey, no other child on paper has these two abnormalities together in the world. Cameron and I did genetic testing and our results came back clear which meant her case was de novo, meaning it wasn’t inherited.”
Open heart surgery at 8 weeks old
After receiving the shock diagnosis, Luna and her parents were then sent to Queensland’s Children’s Hospital Paediatric Intensive Care Unit for more testing and specialised treatments. But that’s when things quickly took a turn for the worst.
“In this process of trying to wean oxygen, get her more stable, etc, she went downhill fast to the point she had to be intubated. They kept trying to find why she was having problems breathing and the cardiologist was adamant it wasn’t her heart causing the issues. Finally, when Luna was 8 weeks old they agreed her heart most definitely was the issue and she needed open heart surgery. At this stage, she got cardiac necrotising enterocolitis (NEC) – a life-threatening inflammatory intestinal condition – and her body turned sepsis.
“In the time she was in PICU she had three collapsed lungs, NEC, ventilator pneumonia, a chest infection, blood clots, heart failure and lung failure. She was put onto an ECMO machine which took breaths for her and we were told we wouldn’t be taking our little girl home. The doctors told us that she wouldn’t make it through open heart surgery but we fought for her to have it as we knew she needed this to live and if we didn’t at least try she would die. They finally agreed to do the surgery but needed to have a window where she was well enough to have it as being on the ECMO machine, she couldn’t go onto a heart & lung bypass machine. Luna must have heard our prayers and cries as in the next week she was off the ECMO machine and somewhat well enough to have her open heart surgery.”
“We were given 24 hours notice before she went under. On the 27th of February at 9am she went in and we waited 6 hours for the call saying that our little girl made it. It was the longest/hardest day of our lives. While they were in doing her open heart surgery, they also took a biopsy of her lung where they found she also has a rare lung disease called Pulmonary Interstitial Glycogenosis (PIG).”
Home after 110 days
Despite all that little Luna went through in her first few weeks of life, she didn’t take long to recover well from the surgery which undoubtedly saved her life.
“She was extubated two weeks later and put back on to CPAP, then another week after that she was put onto high flow oxygen and for the first time in her life we were out of ICU and on the baby ward on the 13th of March, 87 days after she was born!
“So much for not being the heart. She spent another couple of weeks recovering in hospital and was finally put onto low flow oxygen. They did all of the newborn testing, eyes, ears, where they found she is severely deaf and they believe she has problems with her sight too. Then on the 3rd of April, we were transferred back to Hervey Bay Hospital and then discharged from Hervey Bay the 4th of April, 110 days later.
“We came home with oxygen and an NG feeding tube, as she is still learning how to drink. Due to her lung disease she will need oxygen for some time but we don’t have an exact time yet. As she’s on 1L/m and it being higher than average amount to go home on, I imagine it will be for at least the rest of this year.
“With Kleefstra Syndrome, they have told us due to her large deletion and then the other duplication on chromosome 12 that they believe her to be on the severe end of the spectrum. But I feel like she has already proved so many doctors wrong at this point anything is possible! Her future will be full of appointments as she has many medical specialists & will need hearing aids, physio, OT, speech, etc. So travelling to Brisbane back and forth will be on the cards quite a bit.”
La Toya and Cameron are incredibly proud of Luna for beating all the odds and are hoping to spread awareness about her rare disease. Follow along with Luna’s amazing journey here.
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