‘Jay, can you come over?’ he said. ‘I need you to take a look at something.’
‘What have you got?’
‘Spina bifida.’
‘Okay,’ I said. ‘Can you send me the scans. Then I’ll talk to the family.’
‘We don’t have scans,’ the obstetrician replied.
‘Then how do you know it’s spina bifida?’
‘Because I’m staring at the newborn baby right now – he’s just been born!’
Spina bifida is a congenital defect, which means it develops while the baby is growing inside the mother. In severe cases, the skin, muscle and bone don’t cover a section of the spinal cord, affecting nerve function everywhere below. It can occur anywhere along the spine and can be denoted by a very visible hole in the back, often surrounded by a raw-looking protuberance.
The effects vary depending on where the hole is located. As a general rule of thumb, the higher up the spinal column it is, the higher the anatomical level of function lost. If the abnormality is very low down in the spinal cord, it can affect the bladder and bowel, which are controlled by the lowest nerves to come off the spinal cord. Then maybe the ankles. As you go up the spine, it may then start to have a damaging effect on your hips, as well as your ankles, bladder and bowel. Once it starts affecting the hips, you’re much less likely to be able to walk. You can have a lack of sensation and problems with sexual function. There can be associated brain disorders that impact upon swallowing, speech and breathing function. Many patients will need a shunt for associated hydrocephalus.
For some, all these potential problems may make them think that there is no good news. But lots of patients who have spina bifida go on to lead happy, fulfilling lives – albeit totally different ones to what their parents were expecting for them. And there is no getting away from the fact that the initial conversations with an expectant mother or couple are almost universally a pivotal controlling moment in that baby’s future. Which is why we scan so carefully these days.
For a lot of new parents, the twenty-week ultrasound scan is the most exciting time after being told they’re expecting. That’s the moment that can reveal whether you’re having a little Johnny or a little Jenny. Whether or not you want to be told the gender, who doesn’t get a kick out of catching a first glimpse of those tucked-up legs, little nose and those tiny, tiny hands? But while Mum and Dad are thinking about whether to buy printouts or videos from the session, the sonographer’s interest is more than cosmetic. They monitor the heartbeat, measure the spine and check where the placenta is sitting. Basically, ticking off the baby’s development against forecasts. They’re the gatekeepers. The first line of defence against possible anomalies. Which is why, you’d think, everyone would make it a priority to see them.
When I meet the parents, they are distraught. Stunned, silent, uncommunicative. Mum is in bed, recovering after giving birth. Dad is staring out of the window. He says ‘hello’ when the obstetrician introduces me, but his attention soon drifts back out towards the car park. It’s clear that they’ve both been crying.
‘You’ve been told your baby has what is known as spina bifida?’ I say. Mum nods.
‘And what it means?’ Another nod.
‘Usually, these things are picked up during the mid-term scan,’ I say as gently as I can. ‘But we have no records of that.’
‘We didn’t have one,’ Mum replies.
‘Okay. Do you mind if I ask why not?’
‘We didn’t think you had to.’
These wouldn’t be the first young people who either couldn’t be bothered or forgot. That’s one view. Of course, it’s possible that they didn’t really understand how important the scan is. They’re pregnant and they’ve had it confirmed, so life carries on. People have to work – and now there is additional financial pressure on the family. The mother may need to take time off both before and after delivery, so the father may be being super careful not to annoy his boss by asking for more days off, to avoid increasing the risk of being sacked. Medical appointments may seem less important when you face the possibility of not paying this month’s rent. Ninety-nine times out of a hundred, nothing too drastic comes of missing an appointment or a scan. But occasionally things do go wrong, and, in the case of this young couple, they’re left to pay a high price. Or rather, their baby is.
When I first got into neurosurgery, I swore I would treat the whole family as my patient. Where a child’s relatives are concerned, adults and siblings can feel the pain as keenly as the little one in the incubator. Or so it seems to them. But every so often I get a reminder that there really is only one patient.
I discuss the whole situation with the family, going through the facts of the condition, treatment plans and risks. It’s a hell of a lot to take in at once. Without turning from the window, Dad asks me if Baby is going to be all right. Can I ‘fix’ him?
‘There is no magical cure,’ I reply. ‘We will do our very best to get the back closed and prevent any more risk of infection or worsening of leg and bowel function. But we can’t get back what has already been damaged.’
The first, most urgent ‘fix’ for a spina bifida baby is to get the hole covered. Inside the mother they are protected by the amniotic fluid in the sac. The dangers begin from the moment of delivery. The vaginal canal is, to be blunt, a contaminated area and it only gets worse from there. Not only is the baby dragged out into the open and exposed to an alien atmosphere, it’s arrived in a place where sick people congregate. Even the nicest, cleanest hospital is still a house of infection. So, the very first priority is to close that hole as quickly as we can. This is not about regaining any function that the baby may not have but is simply to keep meningitis and the other Big Bads from the door.
There’s no point talking the talk if you can’t back it up. For an open newborn spina bifida case I’d ideally want them in theatre within forty-eight at the latest. On this occasion, I cleared the schedule and we were in the next day – within twenty-four hours of birth. I say ‘we’ because I wouldn’t be alone. A colleague from plastic surgery would be on hand to assist.
There are several types of spina bifida, the mildest forms of which require no surgery. This particular case is myelomeningocele, one of the most severe types. The spinal cord is right there, exposed in this little sac on the baby’s back.
The plan is to close the hole. Before I do that, I’m going to attempt to rebuild the spinal column. You can’t create bone, but you can draft in muscle from elsewhere as well as skin.
My job title is ‘paediatric neurosurgeon’. Most people would translate this as ‘baby brain surgeon’, but where babies are concerned the spinal cord is part and parcel of my work. After all, the brain and spinal cord develop from the same line of cells, with one end ballooning up to form the brain and the other literally shrinking away to form the end of the spinal cord. All the relevant developmental steps for spinal cord development within the foetus have been made by day twenty-one of the pregnancy, before the mother even knows there is a baby inside her.
I use my operating loupes when I do these operations. I can see the infinitesimally small and partially opened coverings of the spinal cord, where the bone, muscle and skin of the back used to be. It looks like gossamer. Using a very fine pair of forceps and some really small scissors, I separate off the spinal cord tissue from the coverings and then from the muscle. The hole running down the centre of the cord comes from the ventricle in the brain. The brain fluid should course down and beyond. I basically need to create a new round section of spinal cord. With care I can make out the nerve patterns and find where the central canal should have been. I bring those nerves over, hold them in place and stitch them up. Think of it as like making a swiss roll, but with spinal cord instead of sponge. And then I make another swiss roll around the cord roll, using the gossamer tissue layer, ensuring I don’t damage the super-soft neurological tissue.
Next, we find the muscle on the sides – over the pelvis – the defect is almost
always in the lower midline area of the back, just above the buttock cleft. My plastic surgeon colleague is well used to working on these areas, so he spends an hour freeing up these muscles and mobilizing them, attached to their blood supply, to allow them to move over the centre where the cord is. He then closes these over, which just leaves the skin.
Babies have soft, stretchy skin. They’re like tiny super-cute old men. That’s the good news. The bad news is that it’s like that for a reason. They are abdominal breathers and they don’t tend to use their chests like adults. That’s why you see their little tummies pulsating up and down. If you need to pull the skin quite tight around from the front to the back, then with movement and breathing, the wound will be put under tension, and is likely to tear open at the back. The ideal situation is to have the skin nice and lax. Hence the plastic surgeon standing next to me. I can see that we’re going to need more than I can stretch from the nearby region.
We take skin from the back, the shoulders, the buttocks – anywhere nearby – to get the newly closed spinal cord area covered. It requires an excellent knowledge of the blood supply of any given part of the skin to ensure that the oxygen keeps flowing to all of it, even as the plastic surgeon cuts it up into a complex latticework to cover the whole area.
It’s a methodical procedure, a series of steps that must be taken in sequence. The damage, one has to admit, has already been done, from the perspective that we cannot regain the function of the spinal cord which never developed. But we need to avoid further problems. Some can happen immediately after the operation – infection, leakage of spinal fluid and potential meningitis, wound breakdown, which can lead to the whole area literally falling open again.
Some of these can arise many years in the future. If there is poor coverage, patients can have a lot of pain from the area. Even worse, if they use a wheelchair most of the time, they may end up with pressure sores and possible breakdown of the skin on their back. There may be no recovering from that, as most of the sources of the grafts have been used up in the initial operation. People can literally die from the complications of spina bifida, and from nothing to do with the spinal cord at all.
There is no universally accepted ‘cause’ for spina bifida. There is some evidence to suggest that a deficiency of folic acid during the early stages of pregnancy can be a trigger. There is also good reason to believe it follows a genetic line. Because we can’t emphatically name a cause, parents often blame themselves. Once the stress of the operation was over for the baby, the parents in this case didn’t blame themselves. They blamed each other.
‘I told you to stop drinking.’
‘And I told you to stop smoking.’
‘It’s your fault. Your whole family’s built wrong.’
‘What are you talking about?’
‘Look at your uncle. You can’t tell me he’s right in the head.’
‘Don’t you dare talk about my family.’
And so it goes. We spend some significant amount of time assuaging guilt and recriminations in our job – it’s important to try to keep families from needlessly tearing themselves apart in the aftermath of what can often be devastating news.
For parents who, unlike this pair, do adhere to their appointed prenatal scan schedule, there may not be such a shock on delivery day. In a standard case, the sonographer flags the possibility of spina bifida in the foetus at the twenty-week stage, which starts a ripple effect up the chain. Sooner rather than later, I may be called in to discuss the family’s options. And by ‘options’ I mean the worst, most basic kind. I talk to them about the condition, what it means for the child. We discuss treatment plans, and chances for an independent life for the child. This is what parents need to know. But all this feeds into the final decision that they need to make now – keep the baby or don’t. Proceed with the birth or go for termination. In a very literal sense, Life or Death. Which do you choose? Left to my own devices, I could wallow in the hell that is explaining that choice. Having that talk with expectant parents is heartbreaking, watching their faces as the brutal reality kicks in. But I need to remember that whatever anguish I’m feeling is nothing – nada – zero – zilch – compared to the turmoil I’m about to inflict on two unsuspecting people.
The couple in front of me are pretty regular. Young, married, first-time parents-to-be. They’ve just received the hammer blow that their twenty-week miracle has spina bifida. Like a lot of people, they’ve heard of it, but only vaguely. Like a disease from the history books, typhoid or polio, it’s something they’re aware of but have never come across. Certainly something they never, ever anticipated when they embarked down the path of starting a family.
I’ve studied the scans en route. It’s a fairly typical case. To me, that is. To the parents it’s a once-in-a-lifetime horror show. At these most traumatic of times tears are to be expected. To be encouraged, even, if only to allow parents to accept how big a deal these conditions are.
I cry a lot. Not in front of my patients, but sometimes when I’m alone in my office or on the sofa at home, mulling over what I’ve seen that day. Mind you, I cry when I watch most Disney films – I haven’t yet got through the bit in The Lion King when Mufasa dies without tears, so perhaps I would be counted on the ‘blubby’ end of the population. What I’m saying is, it’s a perfectly natural physical and emotional response to terrible news.
Yet the second I walk into a room, I see people desperately trying to stop weeping or pretending the terrible thing never happened in the first place. It’s as if they feel ashamed of showing their feelings in front of doctors. Like we’re too important or too precious to be bothered by their petty human trifles. Perhaps I’m reading too much into it. Or possibly that’s their wider experience. Maybe that’s how some medical people want them to be. But it’s not how I am. ‘Take your time,’ I say. ‘You’ve had a shock. We can talk when you’re ready.’
I never pull punches with patients, I won’t lie to them, I won’t sugar-coat the truth. I will, however, go out of my way to deliver it with the softest of velvet gloves at precisely the optimal time. When I sense that the young couple are ready, I start nudging them towards considering their future reality.
‘This is what we know of spina bifida,’ I begin, and I give them a brief description of the general problem. ‘Some babies have more difficulties than others. I’m afraid yours is towards the serious end.’
The ‘Can you fix it?’ question comes up early. I’m as prepared as I can be. I’ve delivered the same speech hundreds of times. I could deliver it a thousand times more and it would still pain me the same.
‘No, I’m sorry,’ I reply. ‘I wish I could. The best I can do is stem the pain, minimize the damage that’s already there and give your baby the best possible chance at a life worth living.’
Some parents sit there, stunned, silent. Waiting for me to take the lead. Others unleash a barrage of questions to which they don’t always want answers. There’s no right or wrong way to react. It’s two sides of the same emotion: shock. Two reactions to the same impossible situation that they weren’t in when they left home that morning.
From what I can see on the scans, I have a good idea of the severity of their baby’s condition and can predict, with some accuracy, what the child’s life would entail outside of the womb. I give the parents a few moments to process my earlier reply and steady their nerves before sharing the next stage of information. There’s no point speaking while they’re still in shock. They won’t process the words. They won’t understand the gravitas. And I really need them to. We’re talking about the biggest decision they’ll ever have to make in their lives.
We’ve almost reached the end of the day and I have nowhere to go other than home to my family. My wife and the kids will soon be sitting down to eat, going over the business of their respective days. The usual chaotic, noisy, glorious mess. They won’t be happy that I’m not there, but they’re used to it. Used to Daddy running in late, starving, scrabbling around for wh
erever my dinner is being kept warm – it’s always there for me – or my attempts to do a late ‘catch-up’ of their day while they’re trying to relax in bed, or just seeing me the next morning. I hate missing out on any second of their lives. But I know how lucky I am. The alternative is sitting right in front of me.
The parents are now calm, receptive and ready for the next stage. So I begin.
I tell them how their baby might have little or no bladder or bowel function, and that he or she probably won’t be able to walk unaided. Sexual function will be limited. Breathing could be difficult. And, worst of all, judging from the inflated size of the brain, quite major developmental problems will almost certainly ensue.
I’m all about the facts. I want the parents to know as much as I do about this particular, unique, special little foetus. I don’t want to be overtly negative. When you consider it, a baby doesn’t actually need bladder and bowel function. None of them have it when they’re born. A child doesn’t need to be able to walk. An adult doesn’t require sexual function. Most of these problems may seem inconsequential when they’re born. When they’re two and they’re not able to walk, it becomes a bit of a problem, but you can be carried about until you’re five or six. When you’re sixteen and can’t walk? Even then there’s a possible workaround, as you can get a wheelchair, you can get a low rider bus, you can physically circumvent almost everything. Psychologically, though, it can be really tough. Some children don’t give two hoots and just get on with everything – no issues are too much. But others have a very different reaction.
To be mentally acute and trapped in a dysfunctional body can sometimes break the strongest personalities, especially in teenagers. I’ve seen it. You look around, see your peers running, dancing, even falling over – you dream of doing any of it. It gets to you. Everywhere you look there are the constant reminders that ‘you’re not right’ and that ‘you need help’. These aren’t my words – they are what children actually say to me in clinic. Perversely, if the brain problems are as severe as I predict, and they do significantly delay mental development, the psychological impact of being ‘different’ is likely not to be as punishing, if it even registers at all.
Everything That Makes Us Human Page 17