This is my latest interview in an occasional series – A Parent Perspective – with Amy. Amy lives with her family in Cornwall, working as an artist and making beautiful pots. Her daughter, Rosa, has a rare genetic disorder and I really enjoyed talking to Amy about how she has trusted her instincts as they have navigated their lives with Rosa’s life-limiting condition.

My son, Ben, is 12 and I knew very little about disabled people when he was born. My experience of being his mother has been a rapid education in the issues surrounding disability. I find it helpful and interesting to read stories about other people with similar experiences and I hope you might too.

Could you describe your family?

There’s four of us – me and my husband, Gareth (we’ve been together for our entire lives), our daughter Rosa who is 13, and our son Ithan who is 11. Rosa has Canavan disease which is a rare genetic brain disorder and means she needs a lot of help. We live in a lovely, tiny cottage on a river in south Cornwall.

What are Rosa’s favourite things to do?

She likes anything that is a bit shocking, that makes you jump, and things that you build up to. We play lots of games, Kerplunk and board games. She enjoys body noise humour. She likes interaction, being in a group of people and being with other kids, which is important and has been lacking so much over the last couple of years. It’s been really difficult to facilitate because she is very vulnerable and we have had to be horribly cautious for ages.

What impact does her disability have on her day-to-day life?

It affects every aspect of her life. She’s nonverbal, in a wheelchair and doesn’t have very much movement. Rosa’s communication is largely through facial expression. She does things brilliantly at school, but at home she just expects us to know, which is cheeky but fair enough. She’s got a computer at school that she operates with a switch but at home she’d rather we just entertain her, not have to press a button to make it happen. She looks up and smiles for yes, and looks down and doesn’t smile for no. Her condition is progressive and we feel things are getting harder for her and she’s in a fog more often. She’s had more seizures over the last few years which means constant managing, trying to make her as comfortable, involved and happy as possible without overwhelming her.

When did you find out Rosa had this condition?

We had a completely blissful first couple of months of just being in love with our new baby and I felt really good. I started to wonder when she was about three months, but we didn’t talk to anybody until she was seven months old, when it was probably quite obvious to everybody else. I don’t think I wanted to know, and as soon as we talked to professionals it was like the floodgates opened. Everybody wanted to do tests and Rosa was in and out of hospital. You’re in such unfamiliar territory, it’s like being in the midst of a hurricane, just trying to make sense of it. We got her diagnosis very quickly – it was only three months after we’d first talked to our health visitor, and we were lucky because it’s a really rare condition.

We’d always wanted more than one child – we were initially quite frightened to go ahead with another pregnancy but were able to have a CVS test at 11 weeks of pregnancy to rule out Canavans. Ithan is the polar opposite of Rosa. He was feisty from the moment he was conceived, and then he arrived and held his head up, like, ‘Here I am.’ He did everything really early so there was no chance to worry. With Rosa our whole life landscape changed, so to then have this little miracle of normality come along was (both) wonderful and sad.

How has your approach to appointments and professionals changed over the years?

We’ve been quite good at that from the start. We sacked our first paediatrician because we didn’t like his attitude. We felt like he didn’t like children and he never addressed Rosa. His initial examination of her destroyed me. I felt he was so cold and moved her around like she was a thing.

Initially we did all the appointments that came and we were more compliant, but we’ve always resisted medicalising Rosa’s life as much as possible. Some people look the condition up in the book and say we’re going to do this and this without assessing if that’s necessary and weighing up the pros and cons for Rosa. Gareth comes from quite a scientific family and I come from a hippy, intuitive family which makes a good combination. When we first got the diagnosis I was really frightened to know the facts whereas Gareth was doing massive amounts of research. He could then drip feed me the information when I wanted it which worked really well.

It sounds like you had such strong instincts about the kind of parent you were going to be and that advocacy bit of it came naturally.

Yes, I think so. There are experimental treatments going on in the States and we looked into all of that but we felt that if Rosa’s life is going to be short then we want it to be as fun as possible. We don’t want her to spend it in hospital, recovering from surgery which probably won’t make that much difference. We decided at the beginning it was about her quality of life and we’ve got more strict about that. Unless we can see how an appointment is going to benefit Rosa, we try not to do them.

Do you think there’s things about the uniqueness of Rosa that has then affected the way that you’ve been a parent to Ithan?

I know that having Rosa as a sister has hugely affected the way Ithan is compared to his peers. There are so many times when we’re going to do something and then we can’t because of Rosa. He’s so good about it and adaptable. He’s very tolerant of Rosa needing a lot of care and attention. Gareth and I work in our business together, at home, so one or both of us is always around and I hope Ithan feels there’s enough attention for him. We try to make the most of good days and seeing the relationship between Rosa and Ithan is precious.

The last few years we’ve started intentionally doing more things separately with the kids. We take turns taking Ithan camping, because Rosa loves camping but our camper van has got too small for us all. It’s important that Ithan can have some undivided attention. For years we took Rosa’s chair across the moor but now she’s big and it’s bumpy. Sometimes you have to recognise there are limits to what you can do, and Rosa would enjoy juggling at home more than dancing across the moor in the weather.

Does Rosa enjoy school?

It’s been really patchy how much Rosa’s been at school because of Covid, and we’re also in the middle of a massive hellish battle with the council about transport. It’s so frustrating and emotionally exhausting because it should be simple. Rosa’s had a taxi to school for years. It’s a brilliant school which she’s been going to since she was three, and she loves it. She had a scary medical event in July when she stopped breathing and had a cardiac arrest out of the blue. She is now fine but transport stopped because they said the driver and assistant weren’t qualified to do it. I’m arranging the training for them but the council keep moving the goalposts.

A school day is very short anyway, in terms of getting work done. We’re both self employed and driving Rosa to school, or her not going to school, has an impact on the wellbeing of our family. Ithan’s school is in the opposite direction and we’ve only got one vehicle, so it’s all juggling while trying to run a business.

Do you have help from carers?

Not enough. We have one carer who brings toys and plays with Rosa for a few hours after school. It’s okay if one of us is here with her, and it’s better than having nobody, but it’s not a great help.

We had more help when Rosa was little. My brother used to work with Rosa and that was great. We had Homecare for some years which was mostly helpful although it was awkward to make changes, and you didn’t always know who was coming. Then there were cuts, and they decided that Rosa wasn’t disabled enough and we lost 30 hours a month of help, which made a big difference. Now Rosa is so big, it feels difficult to get anybody in who can be properly helpful because we don’t have any hoisting or any way of getting her upstairs apart from carrying her.

How has Rosa’s feeding has changed over time?

For the first few days she had trouble feeding, and then she was brilliant at breastfeeding and didn’t want to stop. She was feeding constantly until she was nearly two, and she used to love eating. They were telling us she needed to have a gastrostomy* and we were saying she doesn’t. She was gorgeous and chubby. It started to get more difficult when she was about six. She was aspirating more and it got harder to keep her hydrated when she was poorly. Gradually she was enjoying eating less, finding it more difficult and taking longer. She had a nasogastric tube for a bit, after she’d been ill, and that’s when we started supplementing with formula. We decided it was time to get a gastrostomy, which was a surprisingly hard decision but it felt like Rosa had said, ‘I don’t want to do this anymore, it’s too hard.’ She was eight when she had a gastrostomy and afterwards she didn’t want to eat anymore. Even birthday cake and ice cream.

We started doing blended food* almost as soon as she had her gastrostomy. Our previous paediatrician had told us about it. Rosa’s got a really tiny tummy capacity so we have continued to use formula as well. I blend a lot of her food with formula and when she’s at school they feed her formula, because it’s straightforward. Now she also has a pump feed at night. It was another thing that I was resistant to, because I feel like your tummy should be able to rest when you’re sleeping, but there’s always a bit of give and take – a tug of what your instincts say and what your child needs. Sometimes she just has water in the pump because milk is just too much, and sometimes anything is too much. She has gained weight, which is brilliant for her, but a nightmare for us because we’re still carrying her around the cottage. She’s still really slight and nowhere near the size of a typical 13 year old girl, but at least she now has some reserve.

Terms: *Gastrostomy – feeding tube through abdomen into the stomach

*Blended food/diet – liquidised food put through a feeding tube

You can find Amy on Instagram, Facebook and her blog is here.