Gabbi and her husband Justin were told their baby girl had intrauterine growth restriction (IUGR) when Gabbi was just 20 weeks pregnant. They were invited to participate in the STRIDER clinical trial by her Maternal-Fetal Medicine Consultant at Adelaide's Women's and Children's Hospital. Here is their story.
There are too many negative, scary, and sadly tragic stories. I feel for everyone that has experienced the pain of losing their child before it had time to be introduced to our world. This story only ends in happiness, if only to give others a glimmer of hope when they too need it the most.
About 20 weeks into my pregnancy, my ultrasound scans revealed that our baby girl had intrauterine growth restriction (IUGR). Her abdominal circumference and limb length were relatively small for how far along in the pregnancy we were, whereas her head circumference was on track. The dopplers showed uteroplacental insufficiency, meaning the blood flow from the placenta to the umbilical cord to our baby was abnormal. As a result, our baby could not receive adequate nutrients and oxygen, making it difficult to grow and thrive while in utero.
There is no definite cause for IUGR; however, amniocentesis was completed to rule out any genetic defects. A Fluorescence In Situ Hybridization (FISH) test showed two copies of chromosomes 13, 18, and 2, which ruled out triploidy, where babies are born with an extra set of chromosomes in their cells. However, a chromosome array showed a variant of 'unknown significance,' which was not present in the blood samples of my husband Justin nor me. It was a small 653kb duplication on the short arm of chromosome 12. A global database and literature search did not show any similar cases recorded; therefore, the clinical significance was unknown.
A geneticist highlighted to us that the duplication contained two genes known to cause human conditions. One is a gene called ETV6, which is associated with thrombocytopenia and increased risk of leukaemia. The other is LRP6 which is associated with coronary artery disease in adult life and missing teeth. However, these problems have been reported with deletions or intragenic mutations rather than duplications, so it was uncertain whether they would occur in our child. A variant of 'unknown significance' literally means that. At one end of the spectrum, it could be completely harmless in impacting the physical and mental development of a child. At the other end of the scale, it could cause a serious problem. The positive aspects were that the duplication was relatively small, and no known genes cause intellectual or physical disability in this duplication. Furthermore, it also could not be confirmed whether this chromosome duplication was the cause of the placental insufficiency that had been observed on the ultrasound scans, restricting our baby's growth, or whether the growth restriction was indeed due to a genetic disorder.
It was suggested that if the main problem was placental insufficiency, the baby would be expected to be small at birth but could demonstrate catch-up growth. However, babies born with low weight could experience various other health issues. Another issue was that we were not confident just how long our baby girl could stay inside my womb. If our baby was not demonstrating sufficient and consistent growth inside the womb, she would need to be delivered. We were told, however, that delivery may potentially be as early as 24 weeks. Due to the IUGR, how small she was for her age, and potential extreme prematurity, the risks associated with our baby girl being born that early were very high. Many IUGR babies die in the womb before delivery without ever developing enough to have a chance of surviving. Babies that do grow large enough to deliver are at risk of hypoxia, lacking oxygen from underdeveloped lungs, resulting in poor health and development during infancy and through to adulthood.
Due to the IUGR and potential genetic abnormality, we were asked to decide whether to continue our pregnancy. We only had about two days to decide, as we were nearing the 'in-practice' abortion cut-off date, which is 23 weeks. We were utterly devastated, and it was the worst feeling of our entire lives. I could never have imagined feeling so much confusion. Justin and I couldn't function properly for 48 hours, as every possible scenario kept churning over and over in our minds. How could we properly decide on the fate of our baby? Considering we did not know for sure the definite outcome on our baby's health and development, it just didn't seem right, nor fair, for us to terminate our pregnancy based on the information we did have. There were too many unknowns, and while there appeared to be a chance that the pregnancy could have quite a negative and challenging outcome, there also seemed to be a chance we could give birth to a relatively healthy baby with no major health issues at all.
We collected all the information, statistics, and advice we could get from a team of doctors. We collectively decided to ignore the genetic duplication, as we were advised that it seemed more likely that our baby's slow growth and small size was due to placental insufficiency. We had to have faith and hope to make it as far into the pregnancy as possible. We had to have faith that our baby was growing consistently enough to stay in the womb for as long as possible to make it past delivering an extremely premature baby.
There is currently no treatment to improve a baby's outcome once a growth restriction has occurred. Very frequent monitoring of the mother and baby aims to predict when the fetus has maximised its time in the womb, and the risk of hypoxia and death is so high that delivery is required. We were invited to participate in a study named "A Randomised Controlled Trial of Sildenafil Therapy in Dismal Prognosis Early-Onset Intrauterine Growth Restriction (STRIDER)." The purpose of this study was to investigate whether a drug called Sildenafil (also known as Viagra) may safely improve the blood supply to babies with severe IUGR. It may be possible that by improving the blood supply to the baby, it can grow better and remain in the womb for longer. Therefore it would be less susceptible to the risks associated with extreme prematurity.
The study was a randomised, double-blind placebo-controlled trial, meaning that there is a 50:50 chance on whether I consumed the actual drug or an inactive 'dummy' placebo treatment. There were hopes that the study results would confirm whether Sildenafil affects fetal growth and ultimately improves outcomes for babies affected by IUGR. The babies of the two participants that had been in the study before me did not make it far enough into the pregnancy and tragically passed away.
While I was upset and scared about the outcome of my own pregnancy, it felt good being able to take part and contribute to this study so that in future, other women that experience IUGR may not feel as helpless as I felt and be confident that there is a way to treat the issue for a more positive outcome. I was assured that the treatment would not be harmful to myself or my baby, so I had nothing to lose.
So many restless nights were spent looking for an answer. I just wanted to know whether our baby would be healthy and develop normally. I was searching for something, anything, knowing that the rabbit hole of the internet and the endless amount of information and stories would not give me the answer I needed. My sleep was plagued with nightmares, and I would frequently experience sleep paralysis, to the point that I was so anxious that I was too scared to sleep.
We were prepared for the worst. We knew that we might have to deliver very early into the pregnancy, and we were informed about the side effects of prematurity. We were taken on a tour of the Neonatal Intensive Care Unit (NICU) to familiarise ourselves with the space and the equipment if our baby needed to spend time there. We were mentally prepared for the worst. But we also knew we had to stay strong and hope for the best. The NICU is a place of tiny miracles. And the mothers of these babies have so much strength and courage. They seemed so strong as they watched over their precious tiny ones, and I didn't know how I would have the strength to sit and watch over a baby hooked up to tubes in the cribs as they did. I didn't know how I would have the strength to leave the hospital after delivery without a baby in my arms.
But as each week passed, each weekly scan showed us that our baby girl's growth was still consistent, although her size was a few weeks behind for her age. As time went on, the extreme risks faded away. Every weekly scan, our obstetrician could see improvement and assured us that the growth was good enough not to have to deliver that week. Over the next ten weeks, the dopplers even improved, and there seemed to be faster growth. Whether this was because I had been given the Sildenafil or whether this occurred naturally, we won't know for a while. I know that I could keep our baby growing safely in my womb until I was 37 weeks into the pregnancy. Because our baby still measured very small, at about the size of a 34-week baby, even though she was 37 weeks and was breech, we were scheduled for a cesarean section.
The happiest, most emotional, and utterly joyous moment of my whole life was on 20 April 2016, when our precious baby girl Eva came into our world. She weighed 2050g but was breathing well and had no signs of distress. She did, however, need to be sent to the NICU to stabilise her temperature in an incubator. Meanwhile, I had hemorrhaged in recovery and nearly had to have a transfusion due to dangerous levels of blood loss. After about 4 hours, I was stabilised and resting in my room when Justin wheeled Eva in to see me. I was told it looked like she could stay with me provided her temperature remained stable, and she didn't lose too much weight over the next few days. My heart exploded in happiness and disbelief that she was well enough not to be in the NICU, and I've replayed that moment in my head almost every day since. Over the next few days, Eva's weight dropped to 1800g, but she was monitored closely, and I could express enough colostrum for her. We had her on a very strict feeding schedule, and because Eva was too weak and small to latch onto my breast, I expressed every few hours, and we fed her through a syringe. After three days, she started gaining weight again, and we were discharged after six days in the hospital.
We never got the hang of breastfeeding, but I was adamant that she receive my milk; therefore, I expressed every three hours for five months, and she drank it with a bottle. By the time Eva was six months and eating three solid meals a day, I struggled to express the quantity she needed, so I weaned off and gave her formula.
My mum recently asked me how I felt about everything; about the pregnancy, about the birth of Eva, about being a mummy. I now know that words cannot possibly capture just how deeply a mother loves her child. All I can say is I feel truly blessed!
I am thankful every day. I am thankful to the doctor who gave us hope, my family, who reassured us that they would support us no matter what decision we made, and who are continuously helping with Eva. And of course, I am thankful to Justin, who never left my side and is there every day with me, being the best Daddy that Eva could ever ask for.
Eva is now over five years old and is a healthy, happy, and energetic girl. She is a little shorter than the girls in her year level at school but has developed very normally, and nothing holds her back! We also have since then had another daughter, Zoe. I didn't experience IUGR with her pregnancy. Each pregnancy and experience is different and cherished forever.