Our little girl has a chromosomal disorder

Isabel Adams* and her husband Matt have three children, aged 15, 13 and eight. They live in a village in Somerset. This is Isabel’s story…

Like my older children, my youngest child, Eve, was born at home. Strangely, I didn’t have the same feeling of elation I’d experienced immediately after the births of her brother and sister. I was worried about her from the start.

I was worried even in the early days

As I’d breastfed my other children successfully, the NHS midwife who visited me at home the following day wasn’t too concerned when I said Eve wasn’t feeding very well. But I kept noticing her eyes flickering upwards. In retrospect, I think she might have been having mini fits.

Eve was losing weight but that's quite common in newborns, so we didn’t worry too much at first. But when she was five days old, my sister-in-law, a former neonatal nurse, suggested I take her to the GP as I was concerned that she didn’t seem to be thriving. Never one to mince words, he said, "What a pathetic specimen of a child; she’s probably got a hole in the heart."

The next day, we took Eve into hospital to be checked over. At one point, she stopped breathing. The nurse who was holding her shook her and Eve started to breathe again. The nurse commented that she only has one crease in her palms, but said as that applies to around five per cent of the population, it probably wasn’t anything to worry about.

We were in denial about her development

Despite these warning signs, I still thought Eve was fine, but a few days later she’d lost a lot of weight so we were admitted to hospital for blood tests, a lumbar puncture and all sorts of scans. Even when the consultant told us she had a thin corpus callosum (the part of the brain that connects the left and right sides) and that the effects of this can range from zero through to a quirky personality and severe disability, I still thought, my child will be fine.

When he went off on a tangent about Eve’s flat head – which we later discovered was linked to her brain not growing normally – and said, "Lots of people don’t notice their flat head until they go to university and shave all their hair off", all I heard was ‘university’ and I held on to that, hoping that one day she would get there.

After a scary time in hospital, they sent us home to ‘wait and watch’. We were in limbo. We knew Eve wasn’t like our other children, but we just hoped she would be okay.

When she was three months old, a hospital consultant said, "I’ve got grave concerns about your daughter: I don’t think she can see, and that’s probably indicative of some kind of brain damage." His manner was incredibly gentle, but the news hit me like a sledgehammer. I went straight off the edge of the cliff into depression, shock and grief.

At first I was in denial, then I was furious at everyone. In my grief, I started to bargain with fate: I decided I was going to have breast cancer and die at 60… I would have happily lost an arm or leg if it meant Eve would be okay.

It wasn't long before everyone knew there was a problem

One of the worst things was living in a village; it was like being in a goldfish bowl. Despite being almost apoplexic with grief, I had to walk my other children to school, with everyone looking at Eve in her pram. I’d only told a few people what we were going through, but the news spread fast and soon everyone knew there was something wrong.

It was so difficult: while everyone was going to mother and baby groups with their new babies, I was taking Eve to hospital to see different health professionals. I felt so isolated. It was as if all the joy of having a new baby had gone and it was just bloody hard work. The specialist health visitor told me they didn’t have any groups for new mothers with disabled children because they were too emotionally disruptive for the other mums, which I found really annoying and upsetting.

I worked hard to bond with my baby

I wasn’t getting any feedback from Eve, so it took me a long time to start bonding with her. So I started doing everything I could think of to try to make the bond happen, although I didn’t feel it. So I was massaging her, cuddling her and singing to her every day.

I’m sure all the physical contact was good for her and it also helped me to feel less guilty, to think that even if I didn’t feel it in my heart, I was being the best mother I could physically, giving her my all with my body.

Her disability affected the whole family

It hit Matt like a ton of bricks as well. Although he was supporting me and seemed really strong, one day he came home from work and said: "I can’t go to work any more." I said: "Fine, give it up, work from home." That had a massive effect on our finances because he was on a really good wage.

So suddenly we were both at home staring at each other, without much money, and it was really tough. I couldn’t forget that it was me who had been determined to have a third child. Matt was okay about it, but he would have been happy with two.

It was months before we had a diagnosis

We’d been offered blood tests to see if Eve had a chromosomal abnormality, but I wasn’t ready to find out until she was 10 months old. The results showed that she has a ‘deletion’ or abnormality on chromosome 14. The only information about this the consultant could give us was a sentence in a textbook, which referred to a two-year-old child with a very similar deletion, who was ‘completely mentally retarded and physically disabled’.

That was when it really hit me. Until then, I’d been praying that Eve could become the quirky teenager the consultant had alluded to months ago.

Dealing with other people was tough

That first year I felt incredibly isolated in my struggle to come to terms with my new life. At first, people didn’t know how to behave around Eve. I remember one friend looking at her as if she was an alien. He had a weird expression on his face and I thought, I’ve got to help you overcome your shock.

It felt like a double whammy: I needed my friends to be there for me and they needed me to help them cope. I understood that it was difficult for other people, especially those who had no experience of disability, and I knew we had to wait for them to come round, but I felt really bitter about it. I didn't have a choice: I had to handle it.

Matt and I realised we had to mirror the behaviour we wanted other people to display. We figured that if we treated Eve like an ordinary child and carried on laughing and joking as usual, hopefully they would as well.

We've had fantastic support

When Eve was tiny there were so many organisations I could have contacted for information and support it was quite overwhelming. There’s an enormous amount of paperwork involved in having a disabled child: there are grants to apply for, benefits to claim and appointments to organise. I get about 20 emails a day to do with Eve. Sometimes it can take me a day and a half to organise the care for me to have a day and a half off. It’s complicated.

Eve has so many needs she could fit into about 20 different organisations. We’ve stuck with Sense – which supports deaf-blind children – and an Italian charity called Ring 14, through which we’ve made lots of friends and had some incredible holidays with other families whose children have similar disabilities to Eve.

I’ve also had an amazing social worker who really understands me and has stood beside me in a non-judgemental way.

I’ve worked through the grief

Over time, things have improved. I’ve been through the grief and depression and come out the other side. In the early days after Eve’s birth, I felt that I’d mucked up our family so I vowed to do everything within my power to make sure we still have a really good life.

Having Eve can be limiting: she’s severely disabled, doubly incontinent and needs support with everything from getting dressed to eating. She doesn't conform to any of the normal developmental stages but she does make progress – albeit slowly. We had a big breakthrough recently when she learned to feed herself with a spoon. It's still a bit hit and miss, but it's given her a measure of control and independence. In terms of what she can do, she’s like a 10-month-old baby. But she’s really, really cute and I love her to bits.

Respite care has been a lifeline

Our situation has definitely limited what we can do as a family, but we’ve found ways around that. We’ve had regular respite care for Eve since she was two: she stays with a wonderful woman who has 30 years’ experience of fostering and is fantastic with our daughter: I trust her totally.

I really need that normal time with my other children: they need me too. And it gives me more energy to look after Eve. Having respite makes me love and appreciate her even more when she comes home.

We've all learned a lot about ourselves

I worry sometimes about our other children, but I think it’s given them a great understanding and made them very open to disability and different families. It’s really developed their sense of humour.

On one level it’s diminished me as a person and on another it’s made me grow enormously. It’s knocked my self-confidence and my ability to do things. I used to be a nursing manager and would probably have gone back to work full-time by now if Eve hadn’t been the way she is. Instead, I’ve been working sporadically, doing jobs that fit around her: I do massages and volunteer for a cancer charity, and also do some childcare. I’m considering retraining as a health visitor, but I’m aware I have to work within my limits: caring for a eight-year-old child who has to be carried everywhere is very strenuous and I have to be careful not to damage my back.

Having a disabled child is tough, but Eve has been my biggest teacher in life. Before she was born, I think I was slightly arrogant. I was like the cat that got the cream. Through looking after her, I’ve learnt so much about human nature and myself.

I feel lucky

I have three fantastic children: two ordinarily-developing children and one differently-developing child. Matt and I have time for each other and for the family. Since Eve was born, he’s retrained as a surveyor, which he’d always wanted to do. When she was a baby, everything felt so uncertain we thought he might as well follow his dream and do something new and stimulating.

Now Eve is eight, we know what we’re dealing with. We’re just an ordinary family and she’s one of us. The first year after she was born, I thought my life was over. But then I realised, I’ve still got a gorgeous husband, great kids and friends and I live in a beautiful part of the world: my life’s not bad!

Isabel's tips

1 Get the support you need
Don’t become isolated: make sure you have enough support to keep your life going and enable you to do the things that are important to you. If the people close to you can’t help, make sure you find other sources of support, such as other parents or charities. There are good people out there.

When Eve was tiny, a friend and I started a local support group for families with deaf-blind children and we still see a lot of each other. No-one understands what you’re going through quite like someone whose child has similar needs to yours.

2 Organise respite care
I’ve had respite care for Eve since she was two. It’s been a lifeline for me, and has enabled the rest of us to do things we can’t do when she's around – such as long coastal walks and the occasional overnight camping trip. Eve's wheelchair takes up the whole car boot!

3 Take care of yourself
If I’m feeling low I have a checklist of things I do to make me feel better: I ring a friend, go for a walk or bike ride, do some cooking with the kids or dig the garden. If I haven’t got the energy for any of those, I’ll read a book or watch a movie for a bit of escapism.

4 (Matt’s tip) Be prepared to fight for your child

*Names and identifying details have been changed.

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