My husband, Tom and I met when we were 17 and 18 years old. We have travelled, studied, built homes, moved houses many times and got married in 2017. In 2018, we decided to try for a baby. We got pregnant fairly quickly and apart from some hospital trips due to severe morning sickness and a pre-term labour scare at 29 weeks, we welcomed our son Oliver in January 2019 at 38 weeks. Oliver is a healthy, strong and energetic almost 4 year-old.
In 2021, we decided to expand our family and try for another baby. We again, fell pregnant very quickly and were excited to have a sibling for Oliver. The pregnancy developed as normal, with again some morning sickness starting at 5 weeks. I had the NIPT test at 9 weeks which came back normal for ‘standard chromosomal abnormalities’. We went in for our routine 12-week scan expecting for a very uneventful appointment. We were wrong.
Our baby was found to have Hydrops Fetalis (excessive fluid) in the heart, lungs, stomach and neck. I will never forget the Sonographer leaving the room, to check things over with the Doctor and leaving us for over 20 minutes, only to return to tell us we need to be referred to the Women’s and Children’s Hospital ASAP. Absolutely terrified, and researching the internet for any information we could find, we were left waiting for an appointment with Maternal Fetal Medicine for 3 weeks. It was agony.
We finally had an appointment to see MFM for investigation. The fluid was still present and a CVS procedure was recommended to test baby’s DNA. Unfortunately, on the day of the CVS, the procedure wasn’t able to be completed due to the location of my placenta. We were told we had to wait until 17 weeks for an amniocentesis. Our amniocentesis appointment finally came around and before the procedure, scanning showed most of the fluid had disappeared from baby’s lungs, stomach and neck. We decided to continue with the amniocentesis to rule out any other issues as there was still fluid showing in the heart.
The amniocentesis results took about 2 weeks to come back. It was an extremely stressful and emotional time, I wasn’t able to work or even function in daily life. We decided to go away for a trip to just have a change of scenery while we waited for the phone call. During our trip away, we got the results. There were no ‘major abnormalities’ shown from the testing and we were told by the nurses that everything looked ‘perfect’. We continued care through MFM and the local hospital Midwifery Group, where I was planning to deliver.
At 36 weeks, we had our final MFM appointment and scan. Everything looked great, healthy and active. There was a small hole in the heart but no major concern and the doctors were happy to evaluate after birth. We were told to go home and prepare to become a family of four.
I went into spontaneous labour at 39.5 weeks on 17th March 2022 at 4.30am. We arrived at our local hospital and hopped into the birthing pool around 6.45am. Our midwife checked baby and reported that he was becoming tachycardia. She advised for me to get out of the pool and I was transferred to the birthing unit onto a bed. Jayce Robert was born at 8.57am. Immediately, it was clear that something was very wrong. He didn’t cry, he was blue and didn’t move. The room suddenly was filled with Doctors, Nurses and Specialists. Jayce was taken to the resus station and given oxygen. Tom was able to quickly cut the cord before he was taken away to Intensive Care. I remember just sitting on the bed, absolutely shocked and shaking. I was excessively vomiting and just so confused.
The hospital was clear quite early on that Jayce required more medical attention than they could provide, so we were going to be transferred to Perth Children’s Hospital that evening via PATS. There still wasn’t any idea of what condition was at play, however we now know that the Doctors were suspecting Spinal Muscular Atrophy from Jayce’s presentation. That night we arrived at PCH and Jayce was monitored closely 24 hours a day with a full time nurse.
We thankfully were able to stay in PCH, at the hospital accommodation on the NICU ward. As important as it was to be close to Jayce, we were mindful of our oldest, Oliver who hadn’t been away from us more than one night. We didn’t know how long we would be staying and it was agony. A few days passed, multiple tests, bloods, x-rays, CT’s and DNA testing occurred. The Neurologist called a meeting and we knew it was bad. We were given a confirmed diagnoses of Spinal Muscular Atrophy Type 0. The most severe SMA with no muscle movement, no ability to breath or swallow and no treatment or cure. There are no words that come even close to that moment of diagnosis and hearing that information.
The next few days were extremely heartbreaking, emotional and painful. Jayce passed away peacefully on March 24th, 2022 in our arms. We walked out of that hospital with a box of things, instead of our baby. Jayce will always be a part of our family and our story. He will live in our hearts forever and we will continue to keep his story alive. We are so thankful to have met, loved and held him.
Since Jayce’s death, we have learnt so many things about SMA and genetics. Tom and I are carriers of the gene, and will have a 1 in 4 chance every pregnancy of having an affected baby. We have strongly advocated for genetic screening with our local politicians and created a page called Jayce’s Honour, where we have collected donations for items to provide to PCH NICU.
We are now currently 22 weeks pregnant with our third baby who does not have SMA.
Photos taken by photographybycharleigh.
Read more about Spinal Muscular Atrophy Type 0.
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