Miracle Mum, Adriana went through a seemingly constant series of bad news throughout her pregnancy. She shares the story of welcoming her tiny warrior Adelaide into the world.
"At 10 ½ weeks pregnant, my husband and I were excited when we walked into the doctor’s office for our NIPT test, I couldn’t wait to find out if we were having a boy or a girl! Although there was the stress of the trisomy testing in the back of my mind having grown up with my older brother who has an intellectual and physical disability linked to a chromosomal disorder, known as CHARGE syndrome.
For days we were waiting for the phone call, my phone rang from a blocked number and I nervously answered signalling to my husband it was the clinic. As soon as the doctor introduced himself as a genetic counsellor I knew something was wrong.
He told me that trisomy 16 had been detected in the test causing a ‘test fail’, meaning three of chromosome 16 had been detected in the placenta and circulating blood. The doctor advising that full trisomy 16 was incompatible with life and the fact that we had made it to 11 weeks indicated we most likely only had a mosaic trisomy baby or it was likely I would miscarry in the next few weeks. To say we were devastated is an understatement, the inconsolable sense of loss in an instance was overwhelming and indescribable. The doctor offered a genetic counselling session which we eagerly organised for the following 24 hours - which could not come soon enough. My biggest mistake was googling trisomy 16, with next to nothing indicating any positive outcomes for babies and their families.
Off to the genetic counselling session we went, we were advised that we could choose to terminate the pregnancy or wait until week 16 to have an amniocentesis and decide from there - if we didn’t miscarry before-hand. At that point, baby was measuring to size and not showing any abnormalities or deformities, so this was good news.
So, for 4 weeks we plodded along thinking the worst but hoping for the best. Week 16 rolled around, and the risks of an amniocentesis and the stress of the procedure were another struggle we endured. FISH testing they told us was a new technique which specifically analysed the chromosome (in our case 16) and would be available within 4 days and then 2 weeks for a full microarray genetics test.
Three days later, a genetic counsellor contacted us. The first thing she asked was if I wanted to know the gender of the baby, fighting back tears I said yes! It was a girl! The baby was a girl! Something that is supposed to be the most exciting news was overcome by worry prior to hearing the initial FISH results. All clear she said - the cells removed from baby indicated a normal count of chromosome 16, 2 counts not the 3 that the placenta had indicated. A week and a half later the full microarray came back and once again all clear, however she was not tested to check for UPD - uniparental disomy of trisomy 16. We did not know and would not know if our baby had inherited the normal one chromosome from each parent or both from myself or both from my husband. At this point in time, research suggests that UPD of trisomy 16 does not result in any syndromes or disabilities.
So there we had a whirlwind of emotions. The cells had indicated a normal test result, however with the amniocentesis the results are not 100% and we were told there could have been an undetected percentage of mosaic trisomy 16 in some of baby's cells. The doctor advised of ‘confined placental moscaism’ of trisomy 16 and ‘trisomy rescue’, a rare occurrence when the trisomy is confined to the placenta after the foetus completes a trisomy rescue, kicking out the extra chromosome and leaving the remaining normal number of chromosome 16.
IUGR, prematurity and pre-eclampsia were constantly mentioned at every appointment, blood tests indicating I had a 1 in 40 chance of pre-eclampsia. A gain of any amount and development of each week was a massive milestone. For most people week 24 is viability week, for us who at week 24 were already measuring 2 weeks behind, our goal became more about size then gestation. The goal from 250g to 500g and then to 700g, where at 26 weeks we would be told by a doctor it was unlikely we would make it to week 28 let alone 1kg. This same doctor spoke of the struggles and survival rate of small babies, IUGR babies and premmie babies. To think our bad news was over once we were cleared after our amnio, we were most definitely mistaken.
‘Dwarfism, skeletal dysplasia’ were the words that I was met with on my next appointment, at this point baby’s limbs were measuring behind but head and abdomen on track - an indication of IUGR, head sparring and a failing placenta but also an indication of skeletal dysplasia. So once again, they offered an amniocentesis but realised they had left over cells from my prior amnio. There they tested the specific gene linked to skeletal dysplasia. Five days later they advised that this was a precaution and that the test had come back clear but that some forms of dwarfism are not detected and cannot be prior to birth. I was 26 weeks pregnant and struggling to make it through the day without breaking down.
I was referred to maternal foetal medicine at the Royal Women's Randwick. Dr Margie Harpham and Willem Gheysen changed our lives and to say we are beyond grateful is an understatement. From being told we wouldn't make it any further from our initial doctor, to being given hope after each appointment from them. “We will get you another two weeks” they said at my week 28 appointment; 2 weeks more and 1kg were our goals. However, we were measuring 3 weeks behind.
At week 30 my placenta was failing, blood flow started to speed up towards the baby’s brain, indicating what the doctor’s thought was an indication of anaemia in baby. A TORCH panel, was ordered to check for signs of infection. I had not been sick in any form, apart from nausea during my pregnancy, and all my pre-natal blood tests were clear at two weeks pregnant. So, I was not too concerned about this test.
At 30+5 weeks pregnant the results for the torch panel were in, CMV positive, indicating a primary and recent infection. Once again, our hearts broke. But I wasn’t sick? I hadn’t been sick? Not even knowing what CMV was - straight to google we went - a common cold most often transmitted by children. Quiet and uneventful for those who contract it - unless pregnant. CMV can have devastating effects on babies who contract the virus both physically and intellectually.
Apart from the IUGR, which was also linked to my failing placenta, baby did not show any indications of having contracted CMV. An amnio was offered and termination spoken about, quality of life discussed if baby had the virus. We were broken, my blood pressure sky rocketed and I was admitted as an inpatient for pre-eclampsia watch. Two days passed and the pre-eclampsia risk outweighed my CMV concerns, my constant enquiries were met with ‘we will be testing baby when she is born’. I begun failing my CTGs, movement decreased, and we pushed for an earlier ultrasound a few days later. I was 31 weeks exactly, ‘we will be meeting baby soon’,” Dr Gheysen said after the latest ultrasound. Thinking this was a week away, my husband begun to organise his work shifts. We asked how soon when he walked back into the room, ‘within the next hour’ he replied. I had been given steroids 48 hours prior on the night of being admitted, the doctors decision to administer these at that time, made all the difference and I believe contributed to ultimately saving our daughter's life.
So, there we went on a tour of the NICU and were shown a baby who was our baby's size of 1.2kg, baby Maddison. To this day I still remember the first time I saw her in her isolette - she was beyond beautiful. A few months on, and Maddison and her mother would become our closest friends in the hospital and be with us every step of the way until discharge.
At 5.03pm on the 17th of June, baby Adelaide was born via C-section. Tiny but mighty. In respiratory distress for the first few minutes, but a feisty little cry later and Apgar scores of 7, 9 and 9 she was a warrior. A tiny 1,233 grams, 38cm long, warrior. I had never seen something so precious in my life. Initially isolated due to her risk of CMV infection in an incubator, we watched as a number of machines kept her alive and a team of amazing doctors and nurses worked around the clock to make sure she was comfortable and had everything she needed. She returned a negative result for any infection - she did not contract CMV. She was on minimal respiratory support and breathing on her own 3 days in. Scans of her head, chest and bowel indicated nothing untoward. Due to being so early though and me having suffered high blood pressure, she had some food intolerance and bowel issues.
We spent 2 weeks in the Royal NICU until we were transferred to St George Hospital nursery once she had hit 34 weeks gestation and 1.5kg. It was smooth sailing in her incubator for 2 weeks, sleeping and gaining weight and had upgraded out of the incubator into a cot. That afternoon after having left the hospital for an hour and in good spirits we received a phone call that Adelaide was struggling to breathe and had been put back onto breathing support. We rushed in, shattered at the sight of her on the CPAP machine. How could she be struggling? She was 4 weeks older? Everything was meant to be going well?
We spent a week at St George, she continued to have breathing issues and became swollen and unable to get rid of excess fluid; gaining 400g in fluid. Scans of her bowel indicated gas; NEC (necrotising enterocolitis). We knew what this was as we had researched it being one of the biggest hurdles premmie babies face. She was on breast milk yet still developed this infection. We knew the risks, how devastating it was and the rate of mortality. Off we went in a paediatric intensive care ambulance back to the Royal NICU - her SAT’s dropping and alarms beeping as we drove the 45 minutes to Randwick. The nightmare was continuing.
Two weeks of antibiotics, sepsis, a blood transfusion, failed canula’s and PICC line, and thankfully avoiding any type of bowel surgery. We made it through and we’re recovering. A tiny 1.9kg, we were transferred to Sutherland Hospital nursery at 38 weeks gestation where we would spend the next 2 weeks as a ‘feed and grower’ being discharged on iron and pentavyte supplements, a tiny 2.2kg.
Nine weeks in hospital, 4 ambulance rides, 3 hospitals and countless heroic and amazing doctors, nurses, and stronger-than-life NICU mums and babies that we met along the way. We made it out two days shy of her due date. Our little Addie is 9 months actual, 7 months corrected and meeting all milestones and goals. She is 6.8kg, on all charts for height, weight, and head circumference. To this day no doctor has wanted to test or check her for trisomy 16 or mosaic trisomy 16 as she is developing well at this stage.
Nine months post-partum and the pain is still real, the wounds are deep and emotions still run high as we attempt to come to terms with what we have been through. Our Adelaide is a true fighter and warrior. She is most definitely a miracle baby and we will forever be in awe of her and thankful for those responsible for her making it through. Never give up, be as strong for them as they are for you."
Thank you, Adriana for sharing your story.
Medical conditions: Trisomy 16 mosaic trisomy UPD - uniparental disomy of trisomy 16 ‘confined placental moscaism’ trisomy rescue IUGR Dwarfism, skeletal dysplasia’
anaemia CMV pre-eclampsia NEC (necrotising enterocolitis)
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