“It’s really important that we continue to raise awareness about neurodiversity and CF”: Jimmy's story

I was diagnosed with cystic fibrosis (CF) quite late at eight years old. I was relatively asymptomatic for a number of years, but when I started school l I began to show symptoms and my parents took me to the GP. I was diagnosed with asthma and given an inhaler, but the inhaler didn’t really do anything and it was a vicious cycle of going back and forth from the doctors, trying different things and nothing really working. I have memories of walking the short distance to school, probably less than a kilometre, and coughing so much that I'd be sick.

My auntie and uncle work in medicine and when we visited them, they said whatever I had wasn’t asthma. My mum went back to the GP and eventually I was referred for a chest X-ray at Leicester Royal Infirmary. I was given a suspected diagnosis of cystic fibrosis. A sweat test confirmed my diagnosis and my brother was also diagnosed with CF. 

We weren’t really aware of the condition as a family and it was a big learning curve. There were scary and difficult conversations. I remember walking in on my mum and dad speaking to a CF nurse about life expectancy and it was really traumatic for me to hear as an 8-year-old. It took some time for the family to deal with the diagnosis and get our heads around it.

I was starting the referral process for a lung transplant just before Kaftrio came along, which meant I could start the medication on compassionate grounds before it had been approved on the NHS. 

It was an absolute game changer for me. It felt like it turned the clock back probably 15 to 20 years. I remember going out with friends and they were like, “you don’t cough anymore” and seeing it through their eyes really showed me what a difference it had made to my health. 

I recently started the process to be assessed for ADHD and I suspect I may also be on the autistic spectrum. It wasn’t something I’d even thought about, but then working at the Trust and seeing the link between CF and neurodiversity, I reflected on aspects of my life, and there are clues that now make sense to me. How scatterbrained I can be, how I struggle to concentrate when there’s outside noise, how I can’t always keep track of things, and how I have to be moving around when I’m talking on the phone. I will often start tasks and then struggle to finish them, quickly moving on to something else. Thinking about all these types of things, it was like a lightbulb moment and everything started to slot into place.

It can also impact my CF routine, especially when it comes to taking medication. Getting into a consistent routine was always really difficult as a young adult. I’m better at it now, but at the time I could never grasp why it was so hard for me.

I began the process for a diagnosis by chatting to my CF team and then my GP. I had a telephone consultation and they asked me about why I think I might have it. They then gave me a referral and I had list of places I could go through for that. I chose somewhere, but I couldn’t be referred there in the end. So there’s been a few stumbling blocks along the way, and I’m now in the process of choosing somewhere else. 

If I get the diagnosis, I think it will give me peace of mind. I can attribute some of these things to something central that has impacted me in different ways and start to implement tactics that can help me minimize the impact on my life. 

It’s really important that we continue to raise awareness about neurodiversity and CF. I think sometimes there’s a feeling that it could mean even more appointments and forms, on top of everything we already have to do, but getting that diagnosis can have a really positive impact on your life. It can give you the strategies you need to enable you to get the most out of who you are and to reach your full potential.