5 year old Eva has Rett syndrome, a rare genetic disorder which affects brain development. Eva has a very big heart, with lots of love to give. This is her family story.
Eva has a very big heart, with a lot of love to give. She loves having cuddles and being tickled. Life can be very up and down, but she’s such a happy girl and has a big smile on her face the whole time.
5 year old Eva has Rett syndrome, a rare genetic disorder which affects brain development. It is a regressive condition which results in severe mental and physical disability, affecting around 1 in 12,000 girls each year. It rarely affects boys. Eva has very complex needs and has to have 24 hour care. She lives with her mum Kim, dad Luke, 8 year old brother Taylor and 18 month old sister Maya.
Although initially Eva met her milestones, from around six months old, she started losing some of her skills.
Kim has shared their family story:
“Eva lost the ability to wave, clap, weight bear on her legs, sit and crawl. That all disappeared over time. It was like she had woken up and forgotten how to do these things, we thought it was strange, she could clap yesterday, but she’s not able to clap today.
“After we were referred to the hospital for various tests, we had to wait nearly three weeks for the results and we were really anxious. The consultant rang me and asked us to go in and see him, but I wanted him to tell me there and then. When he told us that Eva had Rett syndrome, I just remember sitting there and everything just spinning. I had read up a little bit about it, but I didn’t really understand it. I didn’t want to believe it. I was in denial.
“We asked if it meant Eva would be able to talk and walk and were told that there was a 50/50 chance. There are some girls who can walk, and some girls who can’t. It all depends how the Rett develops.
My big question was, is she going to live a full life? The consultant wasn’t able to answer that.
“Once Eva was diagnosed, it was too devastating, it was like a car crash had happened. We didn’t really have time to deal with it before all the professionals were involved. It felt crazy. We’d had one consultant, but then we had a portage worker, physiotherapy, and speech and language therapy. I didn’t expect to have all that so soon. At the time, I didn’t realise how serious the syndrome was. I didn’t want to find out; I think it was self- preservation, I was trying to protect myself a little bit. I thought if I don’t know about it, then it won’t happen.
“She is slowly losing the mobility of her hands and there is no purposeful movement anymore. She can’t lift anything up and she can’t pick up toys. The only thing she can do is put her hands in her mouth. She can’t bring food up to her mouth. She has got a peg fitted and all her medication goes through this as well as her night feed. She does eat orally but it’s a mashed up diet as she is at risk of choking. She will probably lose the ability to swallow in the future.
“Eva’s eyes are so expressive, you can tell what kind of mood she is in, just by looking at her eyes. She has got an infectious laugh that makes everyone else laugh. She can have days when she is so happy but then she can have days when all she does is sleep.
“She has a lot of seizures throughout the night and day. Because of her condition, she finds it very hard to sleep at night time and only gets around four hours. It can be in one stretch or it can be dotted about through the night. We sleep with the baby monitor on just watching her and we listen out and keep one ear open, it’s like having a new born, you’re never fully asleep.
“Eva’s condition does stop us from doing a lot of things. Even simply going to the park, because Eva can’t join in and she can’t go on the play equipment, as she’s in her chair. She understands and is fully aware in her mind, she’s just trapped in a body that doesn’t work. Some days she does get really sad and really upset, but she can’t communicate verbally to tell you why she’s sad or upset, you have to guess.
“She has dystonia in her ankles and one hand and it makes her body spasm. She sometimes gets annoyed with herself and can’t do anything about it apart from scratch it herself or pull her hair out. She’s still got enough control to do that, and will scratch whichever bit of her body she can touch. She used to have really long hair but we had to cut it really short because she was just getting her fingers intertwined in it and she was ripping it out.
“A couple of years ago, I was searching online for things I could do with Eva, because I couldn’t take her to playgroups or any activities like that, and Naomi House came up.
I thought, ‘no, not Naomi House, that’s a hospice and that’s where children go to die and that’s not going to happen’. But the more I looked into it, I realised that it had great support for families.
"They have play sessions, and respite for the family and although I didn’t feel I needed respite, I thought it could be fun to get Eva used to other children. So I applied to Naomi House.
“We went for a look around and we loved it, it was all really open and colourful. All the staff were very welcoming and there was so much for Eva to do. Where we are so restricted with what we could do on a day to day basis, she could do everything there.
“Eva was around two years old when we had our first stay at Naomi House. Having the care team look after Eva was really strange at first. I wasn’t used to having time to myself and coming downstairs in the morning and not having to help with Eva’s care, I just didn’t know what to do. But it was nice to spend time with my son, and knowing that Eva was being looked after was just lovely.
Taylor was around six and he was so excited, he wouldn’t sleep, he just wanted to get up and play. He loved to play outside and he loved the bikes, and the Go Karts. He even had a water fight with the staff there – he just absolutely loved it. He said ‘can we live here?’
“I was worried when we first stayed, because I wanted to make sure that I remembered to take everything and tell the care team everything they needed to know. But then I saw them dealing with Eva, I just thought, ‘ok, they’ve got this, they know what they are doing and I don’t have to worry’. For the first time in a long time, the three of us went out for a walk and for dinner down at the pub, and it was so nice and relaxing.
"Rett syndrome is generally a life shortening condition and I have to live knowing that Eva will probably pass away before me. I think that is always in the back of my mind. When Eva was first diagnosed, I really struggled. But you have to get on with day to day things. Now, I don’t look into the future anymore, I think that is the only way I can get through it, just to take each day as it comes.
Naomi House has been so good for us and for our family. Knowing the hospice now and what it is like, I know it’s about giving children with extra needs that special time and that time to actually enjoy playtime with other children and go on bikes and go on swings, and enjoy life.
“It was great for our son who loved being there and it has been great for us as a family, because we feel totally supported and cared for.”