Babies
“From the moment we fell pregnant with Cayden, we felt he was special. We didn’t know he would become a medical miracle”
Like every other pregnant mother-to-be, Mishka Pillay arrived at her gynaecologist’s offices for a routine scan with a sense of excitement. Everything, up until that point, had gone according to plan.
They’d opted for a 4D ultrasound, which uses soundwaves to assess an unborn baby’s face, breathing, swallowing and eye-blinking in real time, revealing the direction of the limbs and offering a uniquely precise view of normal and abnormal fetal behaviour patterns.
This time, the scan revealed something else. As the gynaecologist was moving the ultrasound’s transducer around Mishka’s tummy, her husband, Jordache, noticed her pause. “She had picked up something unexpected,” he says, “and we were watching her face as she tried to understand what she was looking at. Then she said, I need to chat to you afterwards, please.”
Their gynaecologist had picked up something worrying: their baby’s spine was not closing correctly. This is a sign of spina bifida, a birth defect caused by an incomplete closing of the spine and membranes around the spinal cord during a fetus ’ early development. There are three main types, and Cayden was diagnosed with the most severe form: myelomeningocele.
For Mishka, everything after that is a blur. For Jordache, the fear hit home immediately. “I was terrified. I felt my body go weak. We just didn’t know what would happen.”
Mishka watched, confused, as her husband walked into another room. “I saw him collapse into a chair. He couldn’t stand anymore. The way he was slumped over, I knew something was wrong with my child. I asked, is he going to be okay? Can this be fixed? And the doctor looked at me and said, No.”
During the first month after conception, a developing embryo grows a tissue structure known as the neural tube. Over time, this changes into a complex system of bones, tissue and nerves – eventually, the neural tube will form the spine and nervous system. This is known as neurulation. Typically, the neural tube closes at about four or five weeks. Sometimes, however, it doesn’t.
“Simply put, spina bifida is the failure of the spine to close completely,” explains Professor Ermos Nicolaou, a specialist obstetrician and gynaecologist. “This exposes the nerves and tissue of the spinal cord to amniotic fluid – and that causes damage.”
Babies born with spina bifida face an early life of compromised development. Chronic, long-term and life-threatening infections are common, as is paralysis of the lower body, hydrocephalus – also known as water in the brain – and in some cases, severe brain damage.
This is why most gynaecologists will recommend one of two options, when faced by early signs of the condition, says Professor Nicolaou: surgery immediately after birth, in an attempt to repair the defect and manage the extent of the damage, or termination.
For prospective parents, this can be heart-breaking news. “When we walked in we were excited,” says Jordache. “Everything up to then had been perfect. We wanted to see how he was growing, how he was developing. This was a total shock.”
Usually, women may be at higher risk of having a baby with spina bifida if they or their partner has a family history of neural tube defects, or have had a previous pregnancy affected by a neural tube defect. In Mishka’s case, neither of these factors apply.
She remembers feeling bewildered. “I’d had no symptoms at all. There were no warning signs. The scans were clear, routine. So when we heard that Cayden had spina bifida, it just felt like the world came crashing in. I thought, why is this happening to us?”
She was 21 weeks pregnant. “I didn’t want to consider terminating. But I didn’t want to put him through the pain of a poor quality of life. I felt … stuck.”
Confused and undecided, they were referred the very next day to a specialist for a more complete understanding of the condition. Professor Nicolaou is the head of a team of maternal and fetal medicine surgery experts at the WITS Maternal and Fetal Medicine Centre at Mediclinic Morningside.
This is where they learned of a third option.
Traditional surgical management of spina bifida soon after birth is fraught with difficulty, explains Professor Nicolaou. “A lot of the time, we find it is too late – there is too much damage to the brain or spinal cord, and there is very little we can do to repair those effects.”
A much better alternative, he says, is fetoscopic surgery: a delicate and complex procedure that involves operating to repair the opening in the spine while the fetus is still in utero. One challenge: this surgery had never been performed anywhere in Africa.
Hope was on the horizon, however. Professor Nicolaou explained that a group of doctors in the United States had been working on becoming proficient in the new surgical procedure, and may be prepared to visit Johannesburg to help impart their expertise.
That team is led by Professor Michael Belfort, who received his medical degree from the University of the Witwatersrand before heading overseas to focus on obstetrics, gynaecology and maternal-fetal medicine at Baylor College of Medicine in Houston, Texas, and now works with the non-profit, paediatric Texas Children’s Hospital.
“Fetal surgery as a means to repair spina bifida and other neural tube defects has been around for quite a long time,” he says. “In fact, there were doctors using this procedure back in the 1990s. But in 2010, the Management of Myelomeningocele Study (MOMS) was released – it was a randomised, controlled clinical trial that showed definite, undeniable benefits to performing this surgery while the patient is still in the womb. From that point on, doctors in the US and Europe started performing in utero surgery quite regularly.”
For Cayden, Professors Nicolaou and Belfort suggested something slightly different. In utero surgery to manage myelomeningocele necessitated opening the mother’s belly and making a 10-centimetre incision in the uterus. One complication from that approach, Professor Belfort says, is that the subsequent delivery would be a Caesarean section, given the risks associated with such a long scar.
Professor Belfort and his team at Texas Children’s Hospital were the first to develop fetoscopic surgery to reduce that risk – inserting a series of tiny ports, much like those used in laparoscopic surgery, directly into the uterus, instead of cutting it open.
“The real danger was that some of the structures in his brain were being damaged as an effect of the spina bifida,” says Professor Nicolaou. “If successful, this surgical technique would help us to close Cayden’s spine as he continued to develop, stopping the damage in its tracks and, in fact, helping to repair some of the damage that had been done.”
Between the day of their diagnosis and the prospect of a solution, Mishka and Jordache spent the night praying. “We were told there was no answer. Now, we knew Cayden was going to be fine. This was our miracle.”
Intrauterine surgery is complex, but the doctors’ aim was simple: to achieve a successful operation with full recovery, minimal complications and to eliminate the need to perform further operations after the birth of the baby.
To do so, they would need to cut open Mishka’s abdomen, exteriorise or expose the uterus, and insert two laparoscopic ports into the uterus to access Cayden’s spine. They would also need expertise – a team of various specialists and experts, including one anaethetist each for mom and baby, were on standby in theatre to lend a hand if needed.
“Anything could happen,” says Jordache. “For example, a week before surgery, we went to have an injection to help open up Cayden’s lungs – we knew if Mishka went into labour during the operation, his lungs would not be developed enough. It was a stressful time.”
The risks were real, agrees Professor Nicolaou. “Preterm labour was a danger, as was postoperative infection. This was a complex case. These things can happen. There is no guarantee that every surgery will be a success.”
The surgery, however, was a complete success. This is a testament to the doctors’ careful, evidence-based approach, and their meticulous assessment of both mother and child during the five to six hours in theatre – and shows the value of strength under pressure.
Both Mishka and Jordache were invested in the surgery’s outcome, says Professor Nicolaou; so much so that they arrived for consultations armed with hours of reading into the condition. “I must commend them for their bravery, as this is a hard decision. It takes a forward-thinking mindset to say, We will not be defeated by this. Let’s do what it takes to give our child the best possible chance of living a normal and healthy life.”
Mishka woke up from surgery to a crowd of happy faces. “The doctors were taking photos, giving each other high-fives. One of them said to me, show me your thumbs – this is a happy day,” she says. “When I saw my husband, all I could see was his smile. He just couldn’t stop smiling.”
Cayden Pillay was born at 9am on 25 June, 2019 just ten weeks after surgery. He was delivered by Caesarean section and discharged from Mediclinic Morningside, three days later, to his loving and above all relieved parents.
Today, he is happy, bubbly and safe at home with his family – who are just as excited to be with him. “To have the opportunity to benefit from this surgery, for the first time on the continent, we could not be more thankful,” says Jordache. “Everyone at Mediclinic Morningside was behind us; they wanted the surgery to succeed just as much as we did. Grateful … it’s the only word I have for how I feel now. We will forever be grateful.”
A calm baby, he has an easy smile and a sparkle in his eye. The only sign that he has undergone surgery is some scarring on his lower back, which should fade as he grows up. “If you ask me what success looks like, it is obvious: look at his face,” says Professor Nicolaou. “He is smiling, laughing, moving around like any other baby. This is exactly what we wanted to achieve – to send a healthy baby home with his parents.”
This surgery marks a major step into the future of fetal medicine. An unborn baby, says Professor Nicolaou, is now a patient like any other. “The access we have today is unprecedented. So we can treat this developing fetus in the normal way: we can examine him, diagnose him, refer him to a specialist and administer treatment, quickly and efficiently – just like we would manage an adult.”
Accurate diagnosis is key. “A lot of the time, babies are born with neural tube defects without being diagnosed before delivery,” explains Professor Nicolaou. “Yet these conditions can be picked up in the course of a normal, regular scan.”
Another crucial factor is knowledge. “Patients must know the full range of their options. In Cayden’s case, Mishka and Jordache were referred to us the same day they were diagnosed – that is optimal. Doctors all over South Africa need to know that this surgery is an option. There is hope.”
Cayden is a smiler, says his mom. “When we see how happy he is, to be here with us, it’s as if we feel more grateful every day.”
Watch a video about Cayden’s story below:
