“Growing awareness of neurodiversity is incredibly important for children with CF and additional needs”: Jess and Ellie’s story

My husband Colin and I have been together for knocking on 20 years now. We’ve lived all over the place – I’m an Essex girl; Colin is from Berkshire, and we met in Weymouth. We were living in Rye, East Sussex, when our first daughter Ellie was born in 2011; Totnes in Devon when Freddy came along in 2013; and Southend-on-Sea, Essex in 2018, when our youngest, Izzy, was born!  

We moved around a lot because we were trying to find the right provisions to meet Ellie’s Special Educational Needs and Disabilities (SEND) requirements. She’s now in a residential school, and we go there at the weekends or bring her home to us. 

Ellie’s CF diagnosis 

We were undergoing IVF when we found out I’d fallen pregnant naturally with Ellie. It was a fairly straightforward pregnancy, but I went into labour prematurely. The labour was very long and traumatic, and Ellie had to stay in the Special Care Baby Unit (SCBU) for two weeks after she was born. 

Our introduction to cystic fibrosis (CF) came in the form of a rather stern nurse, who showed up on our doorstep asking where I’d been as she’d been trying to get hold of me. I explained we’d only been discharged from the SCBU that morning. She told me that Ellie’s heel prick test had shown she had CF, pushed an appointment letter at me and walked off while I started crying, holding Ellie in my arms. She refused to answer my questions; I called Colin in hysterics. 

I had no idea what CF was, so I did exactly what CF teams tell you not to do: I went straight to Google and scared myself with life expectancy stats.  

I’m sure many parents of children with CF feel the same when they get the diagnosis: the wave of guilt, asking why, and feeling utterly robbed of that newborn happiness everyone else gets to feel. I’d been going to NCT classes with other local mums, but the thought of being around them and their “healthy” babies became unbearable, so I took myself out of the group. 

It was a really traumatic introduction to the world of CF. But my experience of our first appointment at King’s College Hospital in London the next day was the opposite; the CF team there were amazing. My sister drove Colin and me to the appointment, and I’ll always be grateful to her for that, as I know how painful it must have been; she’d lost her daughter Megan as a baby, due to a congenital heart defect. She just let me sob in the back of the car, knowing personally that nothing anyone can say will make you feel better when you receive devastating news. 

The CF team at King’s were so kind. After confirming the CF diagnosis, they talked us through all the information about Ellie’s genotype, and showed us how to do percussion physio and give Creon Micro on apple sauce. We left the hospital with a sack of meds. It had been a long and overwhelming day – and a pilgrimage that we’d repeat every two weeks for quite some time – a long journey from where we lived on the south coast, especially for a breastfeeding baby. 

This made it clear to us that I wouldn’t be able to return to work from maternity leave for a while, and we started to worry about the financial impact, as I was the higher earner. We decided to move in with Colin’s dad in Devon to save money and be closer to the specialist unit at The Royal Devon & Exeter.  

How the CF team helped with Ellie’s autism diagnosis 

The CF team at the Royal Devon were amazing too, and I think they were one of the main reasons Ellie’s SEND diagnosis was picked up so quickly. I had been fobbed off by primary care, who thought I was over-worried as a result of Ellie’s CF diagnosis. But she was missing milestones, and when I mentioned my concerns to the CF consultant, he believed me straight away and called in the clinical psychologist, Nicola, who by chance also worked at the local children’s centre. Ellie was quickly referred, and she was diagnosed with autism before she was two years old. I truly believe the CF multidisciplinary team (MDT) is the reason Ellie was diagnosed so early; her younger brother was only diagnosed after many years of fighting. Ellie has also been diagnosed with ADHD, ODD, dysthymia (persistent depression), severe insomnia and learning disabilities and, more recently, scoliosis (curving of the spine) which will require surgery. 

Around this time, I became aware of a clinical trial for a medication for gating mutations, which Ellie has. I was very keen to get Ellie on the trial, but we were worried that her additional needs might stop her from being recruited, as she would be far from the perfect candidate. Fortunately, however, Ellie was selected and, against all odds, tolerated all the poking and probing better than we could have expected! We were very lucky that she started ivacaftor at two years old; it’s helped her tremendously. People with learning disabilities have a lower life expectancy even without the complication of CF, so it scares us to think where we’d be today without ivacaftor. 

Enrolling Ellie in a residential school 

When Ellie was five, we moved back to Essex to enrol her in an SEN Moderate Learning Difficulties (MLD) school because we wanted her to learn life skills. They had a great programme for food desensitisation. As time progressed and Ellie started heading towards senior school age, she was getting a lot bigger and we really started to struggle as a family with how challenging her behaviour was becoming. It’s not her fault – she’s nonverbal, so she can only communicate with the world physically. We were in and out of tribunals, fighting with the local authority for respite packages to ensure her needs were met.  

One day I sat down with our advocate, who gave it to me straight – that we’d need to make decisions about Ellie’s future. We won’t be around forever, and we needed to think about who looks after her and her CF when we’re not here. So we made the heartbreaking decision to lodge our last tribunal for Ellie, requesting a residential school. It was near impossible to find a residential school willing to even entertain Ellie attending, as her CF was considered too complex for the school nursing teams. Eventually the stars aligned; the very last school we visited, we loved, and our CF team were able to convince them they could meet her needs. The case went to the tribunal, which was found in our favour. Ellie has now been at the school since 2021 and is absolutely thriving. 

How Ellie’s CF and SEN can affect each other 

CF teams are wonderful, and they always go above and beyond to support us. But you can feel like a bit of an outsider to the rest of the CF community when you have a child with profound special educational needs. At clinic, for example, someone will pop in to ask Ellie to do a lung function test or sputum test – not realising she has no comprehension of what they’re asking her to do. They ask her questions, expecting her to answer. Pharmacies don’t understand why a child of 13 still needs liquid antibiotics due to sensory issues. Ellie requires two people to support her when she goes into the community, so a simple trip to the hospital takes incredible organisation and a lot of support from her school to make sure she’s safe and happy. 

We spend a lot of time talking to the CF team about Ellie’s symptoms, trying to figure out if they’re CF-related or behavioural issues. For example, when Ellie was very young, she stopped eating due to sensory processing issues, going beyond even her usually very restricted diet. Her weight plummeted, to the point that her team were talking about admitting her to an eating disorders ward and fitting her with a PEG tube (a tube fitted into the stomach for delivering nutrition). However, the risk assessment showed that Ellie would be likely to rip out the PEG after the operation, causing a major injury or infection, so it couldn’t be safely done. Fortunately, she began eating again and her weight returned to a safe level. These are the sorts of complications additional needs can add to CF. 

Growing awareness of neurodiversity is incredibly important 

You don’t ever get a day off from CF, and you’re in a very strange conundrum when you have a child who has CF and extra needs. When they’re first diagnosed, you worry about their life expectancy. But there have been such positive developments in CF treatments that you start to worry about what the future looks like for them, as there’s now every chance they’ll outlive you. You start thinking about how vulnerable they are, and who will advocate for them when you die. The CF community as a whole are now in uncharted waters as people are living longer.  

For us, a life unlimited isn’t something Ellie will be able to have. But growing awareness of neurodiversity, so people have a greater understanding of broad and vast challenges people with additional needs face, is incredibly important in improving not only the lives of children with SEN and CF, but also supporting their families, carers and friends. 

Take a look at our information on neurodiversity and how it may shape the way people experience living or caring for someone with CF.

Our Helpline

Our Helpline is also available to anyone looking for information or support, a listening ear, or just to talk things through. You can call the team on 0300 373 1000 or 020 3795 2184, or email [email protected], or contact us on WhatsApp. We’re open Monday–Friday, 10am–4pm.

Our online community

Our online community is a safe space to chat with others in the CF community who know what you’re going through. In the online community, there is a dedicated space for people affected by CF and neurodivergence to support each other and share experiences.

Other support 

The National Autistic Society (NAS) also provides support through their advice and guidance page, their general enquiries Supporter Relations team and their Parent to Parent Emotional Support Helpline.