Spina bifida

Spina bifida is a developmental condition in which a baby's spine and spinal cord do not form completely, leaving a gap in the vertebrae. The neural tube, from which the brain and spinal cord develop, closes during the first weeks of pregnancy — often before anyone knows the pregnancy exists, which is why prevention starts before pregnancy does. The main thing to grasp at the outset is that one name covers very different situations. For one person it is a chance finding on a scan; for another it means real difficulties with movement and with bladder and bowel function, alongside which they live, study and work. Below: how those situations differ, what can be done in advance, and which signs call not for monitoring but for going straight to hospital.

How widely it varies

The range is enormous, and much of the confusion comes from one word covering three unlike conditions.

• Spina bifida occulta. The commonest and mildest: one or two vertebrae have not fused at the back, but the spinal cord and its coverings are in place and the skin is intact. It is usually found by chance on a scan done for something else, and usually means nothing. Sometimes there is a dimple, a tuft of hair or a patch of pigment over the spot — worth showing to a doctor, because occasionally such a mark sits over something more significant.
• Meningocele. Only the membranes push out through the gap; the spinal cord itself has developed normally. The sac is closed surgically and the nerves usually escape damage.
• Myelomeningocele. The most severe form: both the membranes and part of the spinal cord with its nerves lie outside the spine. This is the form people usually mean when they talk about spina bifida, and it is the one that affects movement and bladder and bowel control.

With myelomeningocele, how severe things are depends above all on the level of the gap. The higher it lies, the more nerves are involved and the greater the weakness in the legs; with a gap low in the lower back or in the sacrum, the legs may work almost normally while the main difficulties concern the bladder and bowel. No single scan can predict everything — the picture takes shape over the first few years.

What is found before birth and what happens in the first days

Most often the condition is picked up at the routine second-trimester ultrasound scan, around the middle of pregnancy; the exact timing of screening is set by each country's antenatal schedule and varies a little. An MRI scan of the baby is sometimes added to show the level of the gap and the state of the brain more clearly.

If the diagnosis is confirmed, the conversation with the family goes beyond the bare fact: what is known about the outlook at that level of the gap, what help the child will need, where the birth will take place, and all the options open to the family regarding how the pregnancy continues. The decision belongs to the parents, and it needs time.

After birth, an open defect is closed surgically within the first day or two, which protects the nerve tissue from further damage and from infection. The operation closes the gap but does not reverse nerve damage that has already happened; understanding this matters, so that nothing impossible is expected of it. Some specialist centres also offer surgery before birth, on the baby in the womb; it is not suitable for everyone and is discussed case by case. In the first weeks the head circumference is monitored, the brain is scanned, the kidneys and bladder are checked and leg movements are assessed — the whole plan is built on those findings.

Folic acid: why it is taken before conception

Having enough folic acid on board at conception and during the first weeks sharply reduces the chance of a neural tube defect: a substantial proportion of these cases can be prevented. The key word is beforehand. The neural tube closes by about the end of the first month after conception, at a time when a pregnancy is often still unknown, so starting once a test shows two lines is too late for this particular job.

• The standard preventive dose is 400 micrograms a day, started at least a month before conception is planned and continued to the end of the first trimester.
• Foods containing folate — broccoli, spinach, pulses, leafy greens, citrus fruit — are worth eating, but it is hard to reach the necessary amount through diet alone, and they do not replace the tablet.
• In some situations the dose is set individually and is considerably higher. That applies after a previous pregnancy affected by a neural tube defect, where either partner has a family history of one, and with diabetes, substantial excess weight or impaired absorption in the gut. A separate group is women taking anti-epileptic medicines, particularly valproate and carbamazepine.

If you take a regular medicine and are planning a pregnancy, discuss it with a doctor before rather than after: sometimes the medicine can be changed, sometimes it is kept and a higher dose of folic acid added. What should never be done is stopping prescribed treatment on your own on discovering a pregnancy — uncontrolled seizures are more dangerous to the baby than the medicine.

Movement, sensation and skin

With myelomeningocele the legs are affected to differing degrees, from slight weakness in the feet to no movement at all. Daily life differs accordingly: some people walk unaided, some use orthoses, some use a wheelchair. These are not degrees of failure but different ways of getting about, chosen for comfort and for conserving energy. Physiotherapy here is not an extra but the foundation: regular exercise and stretching maintain strength and stop joints stiffening up.

Skin deserves its own mention, and it is the point most often underrated. Where sensation is lost, a person feels neither pressure nor a burn. Hence pressure sores on the buttocks and heels, and burns from hot water, a radiator, a hot water bottle or a sun-warmed car seat. What helps:

• checking the skin of the legs, feet and buttocks every day, using a mirror if needed;
• testing water temperature with a hand that still has sensation, or with a thermometer;
• shifting position and taking weight off pressure points during long periods of sitting;
• wearing shoes without internal seams and checking nothing has got inside them;
• showing a doctor any redness that has not settled within a day: at that stage it is easily treated, a week later it is not.

Bladder and bowel

The nerves supplying the bladder and rectum leave from the very lowest part of the spinal cord, so they are affected in almost every case — including when the legs work normally. It is an awkward subject, but it is the one that most affects independence, and it is solved by a clear routine rather than by putting up with it. With the bladder the main aim is not dryness so much as protecting the kidneys: a bladder that does not empty fully, or that works under high pressure, damages them slowly and without any symptoms.

• The mainstay is intermittent catheterisation to a schedule; parents and child are both taught it, and in time most children do it themselves.
• Medicines that relax the bladder are added so that it holds more urine at lower pressure.
• The kidneys are checked routinely rather than only when something is wrong: ultrasound scans and measurement of pressure inside the bladder.
• With repeated infections the doctor adjusts the emptying schedule; where none of this is enough, surgery is discussed to enlarge the bladder or create a convenient channel for the catheter.

The bowel follows the same logic: not waiting, but running a regular programme — enough fibre and fluid, laxatives, suppositories or enemas at the same time each day. Where that is not enough, transanal irrigation is used, which families are taught to do at home, and less often an operation to create a channel for flushing the bowel. The aim is simple: predictability, so that school, work and travel can be planned without anxiety.

Hydrocephalus and the shunt: when hospital is needed

Most children with myelomeningocele develop hydrocephalus, a build-up of fluid in the ventricles of the brain. It is treated surgically by fitting a shunt, a thin tube that drains the fluid into the abdomen. The shunt stays for life, and sometimes has to be replaced — if it stops working, if the child outgrows it, or if it becomes infected.

Here is the most important thing for everyone in the family to know. A shunt that stops working is an emergency. Fluid can no longer drain, pressure inside the skull rises quickly, and it cannot wait until morning or until the next scheduled appointment. Go to hospital immediately if any of these appear:

• headache, especially severe in the morning or waking someone at night;
• vomiting, especially repeated and without diarrhoea;
• drowsiness, lethargy, difficulty waking the person;
• a change in behaviour — irritability, confusion, a child who is "not themselves";
• double or blurred vision, or eyes that drift downwards;
• seizures;
• in a baby: a tense, bulging fontanelle, a rapidly growing head, refusal to feed, an unusually high-pitched cry;
• redness, swelling or tenderness along the line of the shunt tubing, with fever — this may be a shunt infection.

With any of these, call an ambulance or take the person to hospital straight away; in Spain, Italy, Portugal, Poland and Ukraine the single European emergency number 112 is in use. Make sure the medical staff know a shunt is in place — it determines where the person is sent and how quickly they are seen. It helps to keep a short note to hand: diagnosis, type of shunt, date of the last operation, and the clinic that provides follow-up.

Tethered cord: what to notice as a child grows

After surgery to close the defect, the spinal cord can become attached to the tissue around the scar. While a child is small this causes no trouble, but as they grow the spine lengthens and the tethered cord is stretched. It develops slowly, and the only way to spot it is by changes that were not there before. See a specialist if any of the following has appeared over a few months:

• weakness in the legs is increasing, walking has become harder, tiredness comes sooner;
• the pattern of walking has changed, a foot turns in, or a foot deformity has appeared;
• curvature of the spine has increased;
• back or leg pain has started, particularly on bending forwards;
• bladder or bowel control has worsened after a period when the routine was working;
• new areas of lost sensation have appeared.

This is not an emergency, but neither is it something to leave for a year: the sooner an MRI scan is done and the cord released if necessary, the more function is preserved. Hip dislocation, club foot and scoliosis belong in the same "watch while growing" category — orthopaedic surgeons look after them, and some are managed with bracing and exercise, others with surgery.

Latex allergy — everyone involved needs to know

General articles rarely mention this, and it is essential to know. Latex allergy is markedly more common in people with spina bifida than in everyone else, because of repeated operations, catheterisation and constant contact with rubber gloves from birth onwards. Reactions range from a rash and watering eyes to swelling, difficulty breathing and anaphylaxis, which needs immediate treatment.

• Latex-free care starts from birth, without waiting for a first reaction: it is the only reliable way to lower the risk.
• Everyone providing care must know: surgeon, anaesthetist, nurses, dentist, and at nursery or school the staff and the school nurse. Say it at every hospital admission, even if it is already in the notes.
• At home choose latex-free gloves, catheters, plasters, dummies and toys — an alternative now exists for almost everything.
• If a reaction has already occurred, discuss with the doctor whether emergency medication should be carried and how to use it.
• Bear cross-reactions in mind: some people also react to banana, avocado, kiwi fruit and chestnut.

A general point to close on. Most people with spina bifida have ordinary intelligence and children attend mainstream school; where there is hydrocephalus, differences in attention and planning are more common, and they can be worked with once they are named properly. This is a condition people live with, not a diagnosis that defines a whole person: with steady follow-up and sensible adaptations, people grow up, study, work and drive.

Online consultation

A remote appointment suits the many questions this condition raises that are rarely urgent. For those planning a pregnancy: working out before conception whether a higher dose of folic acid is needed and what to do about regular medicines. For parents: making sense of the latest report, setting up a catheterisation schedule and a bowel programme, deciding what to do about repeated urinary infections, and knowing who to see about increasing weakness or a new curve in the back. For adults: the move from paediatric to adult services, back pain, skin care, contraception and pregnancy. Signs of shunt failure and severe allergic reactions are not dealt with remotely — those mean hospital straight away.

This material is for information only and does not replace medical advice.