It’s been a summer of rainy days and one that’s had people talking of trench foot and building arks. Everyone’s been cursing it – that is, except the Mais-Harding family. ‘It’s not that we love endless rain,’ says Caroline Harding, ‘but this largely wet summer has been much easier for us to manage. When you have children like ours, cooler weather can be a blessing.’ Of Caroline’s three children, two have a genetic condition which means they don’t sweat and are therefore in danger of overheating – a hazard which can be deadly if left unchecked.
‘As a family, we talk about the weather every morning,’ says Caroline, sitting in her cool, bright flat on an unusually sunny day. ‘Do we need a jumper or a sunhat? Do we need suncream, do we need to drink more water, do we need to ask the teacher to put the air-con on? The list is endless! On one of this summer’s more memorably hot days, my eldest son Columbus had his sports day. I took him home in tears after three hours because he’d got so hot, put him in a cold bath, then lay him in front of a fan for the rest of the day. Before I became a mum, I barely gave weather forecasts a second thought, unless I was planning a holiday, but genetic disorders expose you to all kinds of things you’ve never had to think about before. Genetic disorders change your world.’
Individually, genetic disorders are rare, but combined they affect one child in 25 born in the
UK – ‘That’s more than 30,000 children each year,’ says Caroline. Their associated health problems mean that genetic disorders are the biggest cause of death in children aged 14 years and under. Caroline is co-founder and chief executive of Genetic Disorders UK (GDUK), the charity that organises the annual fundraiser Jeans for Genes Day, so these figures trip easily off her tongue. ‘I eat, sleep and breathe genetic disorders,’ she says. But not long ago she knew virtually nothing about them.
Seven years ago, Caroline was a marketing executive with big career plans. ‘I did a business degree and went straight to Unilever where I worked my way up to global brand director.’ Shortly after, Caroline met Andy, a management consultant, and within two years they were married and expecting their first baby. Caroline intended to return to work after maternity leave. But from the moment her son Columbus was born in January 2005, he was a sickly baby. ‘He was permanently crying, he wouldn’t sleep and at 12 hours old, when we went to take him home, a midwife looked at him and said, “Look how red he is – there’s something wrong,”’ says Caroline. He was examined by a paediatrician who said he had an ‘unexplained infection’ and discharged him. However, they were back in hospital three times in his first month.
‘With hindsight, I’m stunned as to why nobody said, “What about a genetic condition?”’ says Caroline.
‘But instead we were left to struggle with a sick baby for months.’
Caroline returned to Unilever when Columbus was ten months old. ‘I started back one Monday but took the entire following week off because he was in hospital,’ says Caroline. ‘It wasn’t the greatest of returns to work! Another time I was stuck in a meeting in New York when I heard Columbus was ill. I went to the loos to have a big cry – he needed me but I was on a different continent.’
The crunch point came when Columbus was 11 months old. ‘I took him to A&E, this time covered in blood from the latest of twice-daily nosebleeds,’ says Caroline. ‘We saw a doctor who said, “Babies do have nosebleeds.” It was our 40th visit to a doctor and our 15th time in A&E and I totally lost it. “Which babies have nosebleeds every day?” I yelled. I came out of the hospital in tears and called to arrange a private appointment with a doctor at Great Ormond Street Hospital the next day. Within minutes of meeting Columbus, he said, “I know what this is,” but he told me that he’d prefer to do some blood tests before telling me.’
Eight weeks later, on 8 February 2006, Caroline had a note in her diary to contact the doctor. ‘It was my 37th birthday, and Andy and I had taken the day off work to celebrate,’ she says. ‘I made the call, expecting to be told Columbus needed antibiotics, but instead the doctor told me, “Your son has a genetic disorder called hypohydrotic ectodermal dysplasia [or HED, see overleaf].” I thought, “Don’t be ridiculous – what he has is lots of different problems including breathing issues and funny-shaped teeth. We don’t have genetic disorders in our family!”
But he said, “We’re 100 per cent sure.”’
Caroline asked the doctor to spell out the name and started Googling. ‘Immediately, photos of babies and children with HED started coming up,’ says Caroline. ‘They had a distinctive look
– white-blonde hair, blue eyes, very pale skin and triangular teeth – and looked exactly like my son. Then I started thinking, “Is he going to die? What kind of life is he going to have? Will he need constant care?’’’
Her husband’s reaction was different. ‘All Andy said was, “Will he still be able to play cricket?” I didn’t say anything but I thought, “Your son might die and you want to know about cricket!” I now realise this was his way of dealing with the shocking news.’ A geneticist told the couple that
HED is an X-linked condition (see box, left), where the mutated gene is located on an X chromosome and is passed on by mothers to their sons. A test confirmed that Caroline was the carrier.
‘I discovered genetic disorders are the luck of the draw,’ she says. ‘One in 25 of us is going to have a child with a genetic disorder and all of us are carrying something that might affect our children. We don’t all have perfect genes. People shouldn’t be alarmed but they should be aware, especially
if they are marrying within a community where genetic conditions are more prevalent, such as sickle cell in Afro-Caribbean, Asian and Mediterranean communities.’
Caroline went through a gamut of emotions. ‘I felt guilty at having given the most precious thing in my life something that was going to impact him for the rest of his life,’ she says. ‘Then I thought, “What is my husband going to think? He’s chosen damaged goods, and if we have another baby it could happen again.” But all credit to him for being the most fabulous husband in the world – he told me, “I chose you for everything that you are.”’
For months, Caroline could only see the negative. ‘I was so afraid of Columbus dying,’ she says, describing how she’d sleep next to him every night, listening to his laboured breathing. She also avoided mother and baby groups: ‘Even though our babies were the same age, I felt that that was the only similarity,’ she says.
Caroline carried on working but found it exhausting and increasingly meaningless. ‘I remember sitting in a three-hour meeting about bottle shapes, knowing my son was seriously unwell, and thinking, “What am I doing?”’ she says. ‘I knew things needed to change.’ Deciding she wanted to work with children or in the health sector, she looked on a website and the first job that came up was for chief executive of children’s genetic charity Jeans for Genes. ‘They wanted someone with marketing know-how and personal experience of genetic disorders,’ she says. ‘I thought, “Is there anyone more qualified than me?”’ She was thrilled to be given the job. ‘The trustees took me on with an understanding of the things that go on in my life,’ she says. ‘I knew I didn’t have to worry about having to rush to unscheduled hospital visits.’
Following diagnosis and appropriate treatment, Columbus started to thrive and Caroline relaxed into motherhood. ‘The difference before and after diagnosis was like the difference between day and night,’ she says, ‘and although it wasn’t the “norm”, we knew what we were dealing with. Columbus was developing into a gorgeous, lively, chatty toddler. I realised how lucky I was, so much so that I started thinking, “I could do this again.’’’ Caroline got pregnant with a girl, Augusta. ‘We were overjoyed, and when she was born I remember thinking, “This is what it’s like to have a normal baby,”’ she says. A couple of years later, Caroline became pregnant again and they decided once more to have chorionic villus sampling (CVS, a diagnostic test for chromosome abnormalities) so they’d know what lay ahead. ‘I rang the clinic for the result and I knew straight away that I was expecting a boy with HED,’ says Caroline. ‘The lady said, “I’m very sorry, I’ve got some bad news.” I said, “Don’t be sorry. We’ve got a lovely six-year-old with HED and he is a joy.”
Caroline and Andy agreed the children should know about the baby’s condition. ‘I told them, “Mummy’s got some news today – the baby has got the same condition as Columbus,”’ she says. ‘I didn’t expect a reaction at all but instead Columbus jumped up and said, “That’s brilliant! A baby just like me!” Andy and I would have loved it if our child was healthy from the outset but we knew we could cope.’
When Solomon was born, the family was prepared for his arrival, and now even the children like to help out. ‘Columbus looks out for Solomon all the time and will often say, “Let’s make sure it’s not too hot in here for him,’’’ says Caroline. With two HED-affected children, Caroline says they consciously try to include Augusta. ‘We don’t want it to seem like they’re getting special treatment,’ she says. ‘At the moment, Augusta wants to be like her big brother. He has dentures because of his condition and the other day she had a tantrum, saying, “I want dentures, too!”’
Family life may be settling down, but the pace has upped on the work front, with Caroline masterminding the creation of Genetic Disorders UK (GDUK). ‘As I struggled with such things as Disability Living Allowance forms and statementing [to get children the right help at school], it occurred to me there must be others who needed similar help,’ she says. GDUK will be a hub offering information, awareness and education for people touched by genetic disorders, as well as backing hundreds of disorder-specific support groups and charities that have been set up by affected families. Money to get GDUK going is coming from Jeans for Genes Day, which is held on the first Friday of each October (the next is on 5 October, and money raised goes to a wide range of genetic-disorder projects).
At the core is a group of highly motivated parents and patients. ‘Their input is invaluable,’ says Caroline. The site will also have a section dedicated to dads. ‘I reckon that half the couples I’ve spoken to find that having a child with a genetic disorder is too much for their relationship,’ she says. ‘For lots of men, accepting that their child has something they cannot “fix” is just too much. Being able to read about the experiences of other men may help.’
Caroline’s boys’ condition is now so well-managed that she’s able to have the same ambitions for them as any other parent. ‘They can’t do anything that involves spending lots of time outside in the heat,’ says Caroline, ‘but otherwise there’s nothing they can’t do.’ Columbus is at an ordinary school and even plays cricket. (‘Andy is thrilled!’) And rather than seeing their condition as an encumbrance, she believes it may even be formative for them. ‘I sometimes envisage Columbus doing medicine so he can help to find cures for genetic conditions and Solomon studying law so he can fight for disability rights,’ says Caroline. ‘By the time they have children, who knows what medical experts will be able to do? There are exciting times ahead.’
And this is where the boundaries between Caroline’s job as a mother and job as chief executive of a genetics charity appear to cross happily. ‘Every day we cope with keeping the children cool and safe,’ she says. ‘We can’t take anything for granted. The work I’m doing with my team is hopefully going to help change the experiences of families like mine whose lives are affected by genetic disorders.’
And as if on cue, 14-month-old Solomon, who has been out with his nanny, has returned looking pink, despite being kept in the shade; he’s whisked into the coolest room in the flat to literally chill. ‘Our lives have settled into our own kind of normal, although life is never truly normal once you have a genetic disorder in your family,’ says Caroline. ‘But life can be improved for affected families like mine and that’s a challenge I’m well-placed to deal with. People with genetic disorders have been voiceless for too long. Well, not any more. I see this as what I was meant to do, not just for my children, but for other people’s too.’
Jeans for Genes Day, on Friday 5 October, raises money for Genetic Disorders UK and for support services for children with genetic disorders. Get your free fundraising pack at jeansforgenesday.org