Mirakel’s Story
Early in Samantha’s pregnancy, a scan suggested that sadly, her pregnancy wasn’t viable, and was told to expect a miscarriage. A week later, another scan confirmed no heartbeat. At this point Samantha was advised to wait two weeks for her body to pass the pregnancy. When nothing happened, a D&C was scheduled, however, a final scan before the procedure revealed a heartbeat. This revelation turned the families world upside down, filled with a mix of shock, relief, and confusion. Little did Samantha know, this was just the start of the emotional rollercoaster that herself and her family were now on.
At the12-week scan, the nuchal translucency (fluid fold on the baby’s neck) measured 3.6mm, just above the 3.5mm cut-off, raising concerns about potential abnormalities like Down syndrome. A week later, a follow-up scan showed a normal measurement of 1.4mm, but the initial abnormal measurement warranted further testing.
The blood tests indicated a 50/50 chance of Down syndrome, with Edwards and Patau’s syndromes both considered low risk. Given the conflicting results, Samantha underwent a NIPT test, which then showed a high risk for Patau’s syndrome, which, given the results of the previous blood test, was a result the doctors had never witnessed before.
Despite continuous monitoring and multiple scans showing no soft markers for Patau’s syndrome, the medical team remained certain that Samantha’s baby would not survive as sadly the prognosis is not good for Patau’s. Each scan and test brought different information, leaving Samantha emotionally drained and confused.
At 16 weeks, an amniocentesis confirmed Patau’s syndrome, but the scans still showed normal development. Samantha queried if it could be mosaic Patau’s, which might explain the normal scans, but the fetal medicine sonographer dismissed this. At 20 weeks though, a consultant actually suggested the possibility of mosaic Patau’s syndrome, further adding to the confusion.
The remainder of Samanthas pregnancy was filled with mixed messages and emotions up until 29 weeks when she experienced a bleed and was told her waters were leaking. The consultant working that day told Samantha that her son will die as his organs will fail shortly after birth and he will be placed on palliative care. At this point, Samantha had received bad news after bad news, been given hope and then had it taken away from her.
Samantha couldn’t take much more and so it was suggested that they could induce her to which she initially agreed but then it was said that they could only do it if they stopped the babies heart with feticide to which Samantha refused. She went home and met with her consultant who told her that her waters were in fact, not leaking and the baby was doing well. Whilst this was great news, it is yet more conflicting information for Samantha to come to terms with.
Following pre-eclampsia, Mirakel was born at 29 weeks and 5 days gestation. He spent 102 days in NICU where his family were often told he was going to pass away due to his Patau’s. Whilst in NICU Mirakel suffered kidney failure and sepsis, to name a few. Sadly, they were repeatedly told that Mirakel was struggling due to his condition and it seemed as though they would forget that he was premature and a lot of his issues could be a result of that and not the Patau’s.
Mirakel has defied all odds and at 10 months old he has now had his NG tube removed and is eating orally and maintain his weight well. He currently has 6-8 hours off his oxygen a day and can tolerate longer with ease. His parents are keen to raise awareness of Patau’s as not enough is known about it and they do feel that healthcare professionals define every ailment Mirakel has, to be a result of Patau’s when this isn’t always the case.
Mirakel’s family were told he likely won’t see his 1st birthday which weighs heavy on their minds of course but they choose not to look at it like that and instead focus on the fact that none of us know how long we have left on this earth and to take each day as it comes. The last baby with Patau’s born in Gloucester was 5 years ago and that baby sadly passed away. The family believe that not enough is known about Patau’s, particularly in mosaic form, as there are so many variables.
The conflicting information Samantha received during her pregnancy and following Mirakel’s birth juxtapose how well Mirakel is doing currently.
Whilst Mirakel is thriving and doing better than anyone had expected, Samantha lives with the trauma of her pregnancy and the months spent in NICU with Mirakel. She is receiving counselling due to troubles sleeping and vivid dreams. She is still trying to unpick the mixed messages she received from different professionals. Luckily they are a strong and positive family and for the majority of the time they are able to celebrate the wins in regards to Mirakel’s condition and his progress.
Mirakel currently attends Kites Corner once a week which gives his family some time to recharge whilst Mirakel is able to spend time with other children at our multi-sensory centre.
