Lily’s Story – by Mum, Jodi

A complicated start

My pregnancy with Lily wasn’t straightforward. I had a lot going on, there were various unrelated complications, the midwives thought it was a heterotopic pregnancy initially, so I was fast-tracked to the early pregnancy clinic and had weekly scans. Despite low PaPP-A and moments of reduced movement from baby, most of my scans were fine. I gave birth to Lily in September, at 38 weeks after being induced due to concerns she wasn’t growing. Because her heartrate dipped with every contraction, Lily was born by C-section and arrived into the world a diddy 5lb.

Within seconds of her being placed on me, she was struggling to breathe and had gone blue. The nurses took her immediately and Lily was transferred to the NICU straight away, where they suspected pneumonia and began treating her accordingly.

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The diagnosis: PURA syndrome

For the first week of Lily’s life she had so many tubes I couldn’t see her little face. Lily remained in the NICU until she was two months old as she was being tube-fed, not latching on, had numerous cannulas, was on and off antibiotics, experienced dips in heartrate and oxygen saturations (sats) and needed breathing support. Lily could barely open her eyes and slept for 23 hours a day.

A substantial sleep study finally identified that she had significant sleep apnoea and, needed a BiPAP machine to help her breathe at night, but her little body struggled to tolerate it. I would sit with her all night, holding her dummy in place to comfort her, because the BiPAP would blow it across the cot.

After extensive genome testing, I was told Lily had PURA syndrome – I was devastated. First identified in 2014 and affecting only a small number of individuals worldwide, for Lily, PURA means a life-long condition including severe developmental delay, intellectual disability and hypotonia (low muscle tone) throughout her body; which affects everything from breathing to movement, feeding and processing of the world around. At the time of her diagnosis, Lily was the only child in Dorset known to have it.

Because it was such a rare and relatively newly discovered diagnosis, the team at Poole paediatrics did all they could, even though they’d never heard of PURA. And I found an online community of families around the world living with children with the condition, which has become an invaluable lifeline.

Bringing the hospital home

Coming home with Lily was a baptism of fire. She was still being tube-fed, I had a BiPAP and a suction machine as well as oxygen for emergencies at home and her sats were monitored around the clock. Every time I moved her, I had to carry all of her equipment. I had to sterilise everything, bottle-feed every three hours with a baby who couldn’t suck, breathe or swallow easily, and manage it all on my own. My anxiety was on another level.

Finding Julia’s House

Just before Lily was discharged from hospital, they referred us to Julia’s House hospice. Cheryl became our family support worker and Esme, then Susie, Lily’s nurses.

At that time, I was so scared Lily might contract germs or get sick, I would hardly go out. And even though I knew Julia’s House staff were more than capable, I wasn’t happy leaving her initially. They would come to the house and I would stay home, so I was close to Lily.

It took time to adjust to that pocket of time where I could breathe and take a step back. But I needed it and eventually I came to look forward to it, because I knew Lily was safe in Julia’s House’s hands.

Over time, Lily started attending pre-school sessions at the hospice. The nurses gave me plenty of feedback, but it took a lot for me to trust them to feed her – because it’s such a complex procedure and I’d been handling it alone since Lily had come home – but they have been amazing and very patient with my anxieties.

I started feeling relaxed enough to leave Lily, so I would go for coffee on my own, take my laptop and catch up on life admin. No one tells you, when you have a child with complex medical needs, about the masses paperwork you have to deal with to ensure you’re accessing everything you need.

The release I needed

Julia’s House has a fabulous complementary therapist, which I found to be the release I needed. I’d been holding everything in. Julia’s House understood that caring for me was as important as caring for Lily.

A friendship neither of us expected

Lily started attending Julia’s House pre-school sessions and the nursing team noticed she had formed a lovely bond with a little boy called Jacob. They would lie on the floor together, holding hands in the sensory room, watching the lights or listening to music. Every time I came to collect Lily, she was with her little boyfriend Jacob.

I asked if I could meet Jacob’s mum, Lucy.

Lucy has become such a good friend. We would drop the children off and go for lunch together. She gets it. How much you have to fight for your child and the connection we share is something I cherish.

Lily’s milestones

Lily is such a happy little girl and has exceeded all the doctor’s expectations.

She came off her feeding tube at six months. Now, Lily eats fairly typically for a child with such complex needs – soft foods, nothing hard – but she eats everything and she absolutely adores food. When Lily is upset, give her something to eat!

Although Lily is non-verbal, she makes herself understood with noises. And she’s perfected the art of saying everything with her eyes. She uses signing too, if she wants more food, she pats my hand.

Because of her hypotonia, Lily is very floppy and a significant weight to move around. But because I’ve been persistent with physiotherapy from very early on – with Julia’s House’s support to help obtain specialist equipment – she can sit independently, feed herself and go in the swing at the playground. She loves being outside, loves trees and leaves. If I’m pushing her chair alongside a bush, she’ll always put her hand out to feel the leaves. Julia’s House have also been pivotal in helping us apply to other charities for things like seating, sensory toys and physio benches. Lily wouldn’t be where she is without it.

Lily now attends a specialist school, as her needs are complex but the transition has been fairly smooth. To reach this point has taken persistence, consistency, determination on Lily’s part and a great deal of support. Me taking her out to different groups, Julia’s House helping her get used to different environments – all of it has contributed.

Learning from each other

I recently went to one of the Julia’s House parent events. For a whole day. And came back feeling so relaxed, I was on cloud nine.

But what stayed with me was the conversation – speaking to other parents, hearing their experiences, learning what support and equipment they’ve managed to put in place, the challenges they’d overcome. It made me feel less alone.

Lily is now sitting independently, something I never thought would happen, she can weight-bear with support and has a standing frame that will help her hip development in the long term.

Care we can count on

The thing that has given me the most peace of mind, above all, is knowing that Lily is cared for by qualified nurses at Julia’s House. I know she couldn’t get better care with all her needs. It’s a relief to know she’s safe. There are always two of them with her, which means I can truly rest.

Lily has had one overnight stay at Julia’s House, the first night I’d ever spent without her. It was amazing. I had a glass of wine, slept and had a lie-in the following morning.

Adapting the Care Plan

Now that Lily is in school, Julia’s House has adapted its care to fit around her school day. Coming out after school for a few hours until Gwen (our carer) arrives, giving me time to catch up, cook, or simply take a breath before the evening routine begins. Their support and that of my family means there’s a new chapter for Lily and I, with me returning to work next month and tackling the last year of my social work degree.

In Lily’s first year, Julia’s House were the only community service available and supportive. Without them, I genuinely don’t know where we would be. Their care team have played a massive part in every step of Lily’s journey – and mine.

Lily’s Story – by Mum, Jodi

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