Microcephaly: A Mother’s Perspective

Kate Olley is mum to eleven year-old Madeleine who has Microcephaly, a condition that has been prominent in the media recently because of the outbreak of the Zika virus and its links to the condition. Kate tells us her story.

“An outbreak of Zika virus is being blamed for an epidemic of babies being born in Brazil with microcephaly”. I stared at the TV in shock. The 10 o’clock TV news was covering Microcephaly.  My daughter Madeleine was diagnosed as having Microcephaly ten years ago.

She was late sitting up and the creche she was attending had referred her to the hospital paediatrician to see if anything might be wrong with her muscle tone.  We had moved to France when Madeleine was eight months old.  The hospital was in Bayonne. “Vous comprenez, Madame.  Vous comprenez?” the French paediatrician asks. I understood. I just couldn’t say anything.

I drove home, along the coast and up into the mountains. The world was silent. I caught Madeleine’s face in the mirror. She smiled at me but my throat was tight. I couldn’t say anything.

As I drove I tried to find clues that something might have been wrong.  She had had an eight-month check up at our GP’s in London and although she scored very few points on the child development checklist, the GP had assured me that Madeleine was happy and healthy and that all babies develop differently.  I had asked the GP to measure Madeleine’s head  because it was one of the three measures – length, weight and head circumference – in the red book in front of me, but she had dismissed it, saying that they didn’t do that now, that head circumference was an unreliable measure. The GP and the Health Visitor had also dismissed my concerns about Madeleine’s weight.  Although she was putting on weight, she was not crying out to be fed – I always had to initiate it – and her weight had fallen from the 98th percentile at birth to the 9th percentile by 28 weeks. I think the clue was there in the GP’s words “happy and healthy”. When a child is happy and healthy no one goes looking for problems.

I thought back to her scan and to her birth. Her head was of average size, statistically, but because she was a very long baby (59cm) and a heavy baby (4.2 kg), a head of that size was disproportionately small.  None of the doctors had read anything into that at the time.

On the day she was born, my friend Catriona visited us and her first remark was “Oh, hasn’t she got a small head?  That must have made labour easier” she laughed with me.  Madeleine did have a small head, but it made her look so pretty, all nicely in proportion.  I had looked at the other babies with their gigantic heads. Now I know that babies heads are supposed to be disproportionately large to their bodies.

That evening at home the phone rang.  It had been the only noise all evening. “Kate, it’s mum here. I was just wondering how you got on at the hospital today”.   I told her that the doctor believes Madeleine is behind developmentally and that her head has not been growing properly. “But she hasn’t got a small head” mum says “she is lovely”. “No, well, yes, when you measure it she has.  It means her brain hasn’t been growing properly and we don’t know why. They call it “Microcephaly” – it is from the Greek for “small head”. It could be something genetic…”   “But there’s nothing wrong with you or John” she was quick to point out.   “No, I don’t think it has to mean that; it could be a genetic disorder that she’s got. They’re going to test for a genetic disorder called Retts Syndrome. It will take a long time. The doctor said not to look it up, I’ll only worry. The other thing that can cause Microcephaly is brain damage”. “But she was alright when she was born wasn’t she?” mum sounded worried.  “You would have known if something had gone wrong, wouldn’t you?”. Madeleine had scored 9 out of 9 on that test they do just after the baby was born. There wasn’t any suggestion that she had been deprived of oxygen at birth, but how would I really know? The labour had been very long, there had been the usual change over-of midwives on shifts.

“The other thing that can cause Microcephaly is an infection in pregnancy” I told mum. “But you weren’t ill at all, were you?”. No I wasn’t. I was the healthiest I had ever been “No, I wasn’t ill, but there are infections that can get passed on to the baby while it’s in the womb. Rubella, Toxoplasmosis and CMV.  All three can cause Microcephaly”.

“Rubella, that’s German Measles? You were immunised against that at school though.  And toxoplasmosis.  You get that from cat litter, don’t you? Your neighbours asked you to look after their cat while they were away.  Do you think that could be it?”.   “I knew about that – I wore gloves when I changed the litter tray”.   I didn’t really want to talk about this anymore. I tell mum that Madeleine needs feeding.  It is partly true, but mostly I am overwhelmed by her questions.  I want to be the one asking these questions not explaining why I didn’t notice anything was wrong with my baby.

I think about it all night.  Madeleine was my first child.  But my mum, aunts, other women with children…none of them knew anything was wrong. Not the midwife, not the GP.

At the next hospital appointment, I am asked about the Toxoplasmosis tests I had had when I was pregnant.  “What Toxoplasmosis tests?” I asked.   It seems that in France women are routinely tested, three times through the pregnancy, for Toxoplasmosis as it is a known cause of Microcephaly. “They don’t do that in England” I replied.

Reading the newspaper reports now about the Zika virus, I wonder how long Zika stays in the body to enable doctors to know if a Zika infection during pregnancy was the cause of the baby’s Microcephaly. Due to the fact that Madeleine’s Microcephaly was only picked up when she was one year old, they couldn’t test to see if I had passed an infection on to Madeleine. We had no way of knowing if an infection had been the cause of her Microcephaly but the doctors judged it unlikely as those infections normally result in vision or hearing difficulties as well as Microcephaly and Madeleine seemed to have no problems with either.

The year passed by with more genetic tests.  Since that first day in Bayonne, I had been living with the “high probability” that she had a genetic disorder called Retts syndrome. After six months and Madeleine happily making some, albeit small, progress, Retts, along with two other genetic conditions, Angelmans and Williams syndromes, were all ruled out.  We moved back to England for the other tests. A brain scan and an EEG showed her brain was formed normally but was just too small. There was no evidence of brain damage or the fontanelles closing prematurely restricting the brain’s growth. We drew a blank.

Madeleine is now eleven. She has severe learning difficulties and overall functions at the level of a one year-old, perhaps an 18-month-old in some areas. She is happy, noisy and full of life but she’s also quite a handful as she gets bigger and more willful. She learnt to walk when she was three and her speech grows day by day.  She has a talent for “singing”, picking up the melody of a song very easily and, although it’s her “words” that she belts out at the top of her voice, repetition of the songs has a way of bringing on her language so she gets closer and closer to saying the words over time.

I am still toilet-training her. What many families seem to achieve in the summer holidays has been on our programme for the last five years and it’s still on-going. I often feel stuck  in a sort of “groundhog day” for such long periods – whether that is teaching her how to use a fork to eat, put a penny in a piggy-bank, I almost can’t remember when I started trying to teach her something but I am still doing it years later. I find life very difficult at times and feel a real sense of loss for the baby I had. I felt that I had lost my Madeleine. I felt like a mother and then I had to start functioning like a special needs expert, a speech therapist, a carer.  I went from trusting my instincts to losing confidence in them.

I think back to the missed chances when doctors didn’t follow up on the smallness of her head in relation to her size, but I am glad they didn’t. I had a blissful pregnancy and a perfect first year with my baby, not knowing what was to come.

Microcephaly can affect children in many different ways.  A child can have a small head and it have no effect on their mental or physical abilities whatsoever. Those who are affected can have a range of learning disabilities, and (with the little I learned about infection-related Microcephaly) many will suffer from vision and hearing difficulties. As I read the news today, scientists are still to even prove there is a link between Zika and Microcephaly and many of the reported cases are turning out not to be Microcephaly after all. I know that I cannot speak for all families but having a child with a profound and life-long disability can place an enormous strain on a family.

Here in the UK, Microcephaly, that rare term that hardly anyone had heard of, is now front page news and is bringing attention to severely disabling conditions that, as in our case, doctors have not been able to explain.

The Microcephaly Support Group UK can offer information and advice on the condition.