Background

Pippa is 11, and lives in Cheshire with her mum, Laura, and siblings Luke, Hannah, and Alfie. She has a very rare genetic syndrome called Kabuki Syndrome.

Laura says that “It affects children in vastly different ways, but for her, she has severe sight impairment, learning difficulties, she’s very hypermobile and is very clumsy. She can’t hold a pen and things like that.”

“She also has Attention Deficit Hyperactivity Disorder (ADHD) and some difficulties with sensory processing.”

 

Pippa’s condition

Laura explains that “Pippa had open heart surgery at six weeks old, as her two main arteries were the wrong way round. That would normally be diagnosed during pregnancy, but that didn’t happen. So, she ended up being born quite poorly.”

“We didn’t think she would make it, but she turned it around quite quickly after her operation, and was home within three weeks. They told us there might be some disabilities caused by the traumatic birth, so we were just grateful for every moment with her and celebrated everything she could do, as opposed to what she couldn’t.”

Pippa’s diagnosis didn’t come until much later.

Because she wasn’t diagnosed until she was eight, as part of a medical trial, they didn’t really know what to do with her until then. She went to a mainstream school, and the only support she really got was with her vision. It was only when she started in specialist units at school that she really came on.

“She’s doing great now. She gets lots of support from the vision team, as well as speech and language therapy, occupational therapy and physiotherapy.”

Still the biggest impact of Pippa’s condition is her visual impairment. “She’s got cerebral visual impairment, which affects the signals between the brain and the eyes. As she gets tired it gets worse, or if the lighting is too bright or too dark. She’s better at home or school, as she knows the area. She’s learning to use a cane now, so we’re all learning how to adjust our walking to help her. Sometimes she needs her wheelchair, if the ground is uneven, or it’s a long walk.”

But Laura also struggles with keeping Pippa’s attention. “Her retention is very poor. She gets very distracted. You have to stop her from walking into things, or going out into the road when there are cars. It’s a challenge to keep her attention where it should be.”

“She’s got quite severe tics as well, which they think might be Tourette’s. They can be quite aggressive, which drive her crazy as she’s quite short tempered. We’ve discussed then together and I asked if she wants to do an assessment for it, but we don’t think it’s worth going through that long process just to have another label.”

 

How it impacts the family

Pippa is dependent on Laura for a lot of things. “She needs a lot of help with personal skills like washing, dressing. She can’t do that without help. Things like fastening shoes, holding drinks she needs support with. She’s got an emerging independence, which is wonderful, but there are some things she still needs help with.”

There are good days and bad days, to be fair a lot of my time is taken up with Philippa. Not so much now, as school provides a lot of support for her, but certainly in the past. Between going to appointments with her and doing her home therapy, her siblings had to be very understanding of her needs.

Laura adds that Pippa’s condition also has an effect on her siblings. “Luke is 19 and Hannah is 17, nearly 18, and they’ve really grown into very considerate adults because of their sister. It’s done them the world of good, but I can imagine it will have been tough for them at times.”

“It was a struggle when they were younger, but they really stepped up as they got older to help care for Pip. They can take her off and do something for half an hour, and I can take some time to sort something else without feeling guilty.”

“Her younger brother, Alfie, he’s currently under assessments for autism. He’s already taken on being very understanding with Pippa, more than you’d expect for a three year old. Pippa can be quite grumpy, she doesn’t cope well with his noise. But he doesn’t get upset by it, he just carries on.”

“I am really lucky they are all fabulous kids. I’m impressed with them all, they took it on and just got on with it.”

 

Coronavirus and Lockdown

During lockdown, Pippa’s low immune system meant that she had to shield. “At first it was quite nice, having everyone home. But then Pip started to struggle. Her mobility reduced, even though we were walking. I had to do her physio, instead of her having it done by a professional at school, and we didn’t have the same equipment as them. She was getting more pain in her back and legs.”

“She was going to social groups three to four times a week. Suddenly she couldn’t see people any more. She has one friend in particular, and they pined for each other at the start of lockdown.”

Pippa also struggled not being able to see her family. “She would normally go and stay with her grandparents quite a bit, but wasn’t able to go and visit them anymore. Just before Christmas, we lost her grandad very unexpectedly. She’d just lost her grandad and she was stuck at home again, in the next lockdown.”

When Pippa was finally able to go back to school, Laura explains that it helped her wellbeing. “She loves nothing more than going to school, she can’t wait to get there and she loves every minute of it! That’s really helped her to feel better after a long year of lockdowns.”

 

How we helped

“During the pandemic, when Pippa had to shield, she was using a computer to do her schoolwork all day. But she was really struggling to sit at her desk, so we applied to get an iPad for her. I’m quite computer savvy, but I’d never used an iPad so wasn’t too clued up about it.”

After we applied, we got an email asking if we would like training, so we said yes! It was fantastic, absolutely brilliant. It was Ian who trained us, and he was very patient. Before the training he asked about the kind of things I wanted to learn, and things that Pippa wanted to use the iPad for, and planned the sessions based on that.

“He taught us how to use accessibility tools, meaning that Pippa can open up a webpage and have it read aloud to her because she is quite slow with her reading. He showed us where we can go to access music, as she really likes music. There were also learning apps, and apps for autism. It was tailored to us.”

 

How it made a difference

“It means that she can use the iPad for what she wants to use it for, and I know that everything is in place for her to do that safely. As I say, she’s got this real need for independence at the minute, and now it’s set up so that she can use it herself and she doesn’t need to rely on me to do things for her. It gives her more confidence, which is lovely to see as a parent.”

“I’ve also been able to put a chat app on there that she can use to talk to people from school. It makes her feel like everybody else, and she can sit and chat to her friends.”

“A big thank you, because what Family Fund do is absolutely amazing.”

 

Would you be interested in taking part in an iPad workshop? Find our upcoming workshops here.