Ruby and her family have benefited from the care of family support workers faciliated by Kentown Support. Here, Ruby's mum Nikki shares her experience.

I had Ruby in 2021, we also had two other daughters. Ruby was sick when she was three to four months. At first I thought it was colic, as she was sick quite often. But at seven months old, she was poorly, needed  antibiotics, still didn't seem well and looked yellow.

Ruby worsened and we ended up in the children's ward. They tested her blood and discovered she didn't have any haemoglobin in her red blood cells.

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She started having blood transfusions and spent time on a children’s leukaemia ward in Manchester. 

It took five months to get a diagnosis. There's a bug that can go into the bone marrow causing it to temporarily not work – we hoped it was that. 

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We eventually got the diagnosis of Pearson Syndrome, a mitochondrial disease. It’s ultra-rare – there are about four other children in the UK with it. It doesn’t have a great prognosis. 

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I obviously know more now, but when she was little, I didn't really anticipate she'd still be here now. A lot of children with Pearson Syndrome don't survive infancy. It’s a hard time - you've got a baby you don't think is going to be able to talk, walk or do anything. And for other children with mitochondrial diseases, that's sadly often the case – they can't walk, talk, or feed themselves. They're very limited in what they can do.

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After the diagnosis, our first Rainbow Trust Family Support Worker, came to visit us at home. We were at a stage where everything was scary and unknown. That support was so positive. 

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They played with the girls every month doing crafts and stuff. It was good to have them around.

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Ruby is  doing well. She can walk and is  starting school in September. We've been really lucky in that. She's been in hospital a few times, once when she was ill for two months and lost a lot of weight. If she gets a bug, it affects her badly. 

It's quite nervy, sending her to school and when she is ill, I am on tenterhooks. In summer, things are much better, but in the winter, it can be tough.

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Ruby had blood transfusions for two and a half years. With Pearson Syndrome, the bone marrow recovers, but then, sadly, there can be complications. Ruby’s is a mitochondrial mass deletion of her mitochondrial DNA. Her DNA problem is in the actual mitochondria that floats in the cell, giving it energy. She's missing a big chunk of that DNA. It means her organs don't have enough energy to function. They're running at 60%.

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As she gets bigger, and her organs need more energy, they will struggle. She'll get diabetes, kidney failure, become blind, and eventually deaf. 

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We're in this honeymoon period now. We've grown in confidence because she is doing so well. But in a couple of years' time, she'll start going backwards. 

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The support from Kentown Support has been fantastic. We were just functioning and surviving the days. Rainbow Trust family support worker gave us a lot of happiness. It’s just like respite. 

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I have lots of memories of them coming round and making the kids happy, playing with them, bringing different crafts etc. They also took them on days out. The older two went on sibling days, and the cinema, Blackpool Zoo, and to see The Gruffalo. Things I didn't have the capacity to do. 

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They were kind and fun. The girls had a great time with them. It was nice knowing they were happy. 

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Two summers ago, we went to Fleetwood Beach for a family day. I enjoyed talking to other parents and hearing their stories. It makes you take stock and be grateful for what you have.

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This year I feel a lot stronger because Ruby  is so well. I booked a holiday and can logically think about and book things. Before I felt like we'd been dragged through life. Now, it's nice to have a bit of respite.

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I feel there are other children who are more poorly than Ruby that need more support than us. So now we only get help during holidays or every three months. It’s nice to know the Kentown programme is there and . If Ruby's poorly, I can message and say, “will you come a bit more?” 

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Rainbow Trust – through the Kentown programme – have been so kind. They’ve made happy children and helped support parents and provided a bit of relief. It's such a unique gift to give and I will never forget that. 

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It's the gift of time, isn't it? A couple of years ago, somebody gave me a diary to write positive things in. It's nice. I can fill it with things that have happened. The Kentown programme has given us loads of things to talk about and remember.