Neurodivergence and cystic fibrosis: Mum Amanda* shares Oscar’s* story

Content warning: This story touches on sensitive topics which some people might find upsetting. Our Helpline is here to support anyone struggling with any aspect of cystic fibrosis.

Oscar’s* diagnosis

Oscar's CF diagnosis was quite traumatic. He was diagnosed via the heel prick test at 19 days old, but receiving this news did not come fast enough for us. I knew something wasn't right from the moment he was born as he was losing weight continuously.

I kept ringing the hospital begging for help because he would inconsolably cry until he passed out from exhaustion. I was later informed this continuous crying was from stomach pain. After one episode where Oscar passed out and I could not rouse him, I took him to A&E, where he was admitted. He was 14 days old.

Oscar continued to lose weight during this admission until we finally received his CF diagnosis, and he was started on Creon®.

The hardest thing during the time before his diagnosis was not only watching Oscar suffer but also the dismissive assumptions I received from the staff. At first, they passed me off as an over-anxious mother; then they assumed his weight loss was because I was incompetent with his feeding. It was only after I was placed under observation with my baby on the children's ward that I was ruled out as the problem.

From my perspective as a parent, the process of getting Oscar's CF diagnosis echoes the frustration I've experienced having his neurodivergence diagnosed. In Oscar's case, his neurodivergence means that he has Generalised Anxiety Disorder and is autistic with sensory processing disorder.

Growing up

For Oscar, apart from suffering from a great deal of abdominal pain in his first month, cystic fibrosis did not impact him very much for the first four years of his life. He took his medicines like a champ, and physiotherapy was not insurmountable. And since his initial admission at 14 days old, he has never been hospitalised for his CF and has never cultured any significant bacteria.

However, he still struggles to keep his weight up, and more recently, he has started finding it challenging to keep his chest clear.

At the age of four, Oscar's autistic traits started to become more obvious, which made his CF care much more challenging – he now expresses all the time that he wishes he didn't have to take lots of medicine.

The challenges of co-occurring neurodivergence and cystic fibrosis

It's important to remember that whilst there will be many similarities, every case of neurodivergence will look a bit different and impact CF care differently – in the same way that no two CF cases are exactly the same.

For Oscar, there are sensory challenges – swallowing capsules feels distressing, and sometimes the feeling of them in his mouth makes him gag. Some liquid medicines taste bad, and he outright refuses to take them.

Oscar also struggles with the taste and texture of a lot of food and nutritional supplements, which has made adequate nutritional intake extremely difficult for him. The sensation of clearing mucus from his chest also causes him to panic and makes him anxious, so he is resistant to make any conscious effort to clear the mucus from his airways.

The demands of eating, going to the toilet, doing physio, and taking medicines, and doing so in a timely manner is very dysregulating for Oscar. I watch him struggle to force himself through these treatments. Sometimes it's too overwhelming for him, and he cries and runs to his safe space to curl up in a foetal position.

Managing physiotherapy

Physiotherapy is by far the biggest challenge for Oscar. At its worst, the mention of physio sends Oscar into an emotional episode that can last a few hours with non-stop crying, throwing things, lashing out, and urinating himself out of distress before he finally completes the treatment.

After discussions with his CF team we have come to a stage where Oscar sometimes has to go without his physio treatments when participation becomes too challenging for him.

Joining the dots

I feel that Oscar has been let down in many respects.

There were signs that Oscar was autistic for a long time before he was diagnosed. I wish the child psychologist in his CF team had been supportive rather than dismissive of my earliest concerns. I was made to doubt my judgement, which made me much slower to pursue the process of an autism assessment.

I feel that had the dots all joined up, and an autism, sensory processing disorder, and anxiety diagnosis all been made sooner, Oscar's CF care might have had a slightly better outlook. For example, even though Oscar has always struggled with eating, it was never really identified that he had issues around food until he already had significant food avoidance.

Communication between members of the CF team was, at times, poor, and I'd have to inform each individual member of the team over and over about Oscar's development since the previous clinic. This prolonged the time that CF clinics lasted, and the lengthy nature of these appointments were challenging for Oscar to tolerate.

Some team members understood the implications and challenges of autism better than others, and at times conflicting and contradictory advice was given.

How healthcare teams should adapt

It's incredibly important to raise awareness among cystic fibrosis specialists about approaching and coping with co-occurring neurodivergence and cystic fibrosis so that healthcare teams can be adaptive and open-minded. It's essential to identify neurodivergence early in any child's case, but especially in the case of a child who also has a complex medical condition.

My recommendations for supporting neurodivergent CF children and their families:

• Occupational therapy should be more readily accessible to neurodivergent CF patients.
• Families of neurodivergent children with CF should be offered access to information and support around healthy relationships with food.
• Coming up with solutions needs to be a more collaborative process between CF teams and their patients and families.
• More visual aids for helping neurodiverse patients process information and manage treatment would be helpful. (The Trust's guide for adults with learning disabilities is an excellent starting point, but more resources covering further information for a range of age groups would be beneficial).
• Suitable waiting areas. In our case, the CF isolation rooms that clinics are held in are full of medical equipment. This is quite a hazard to navigate with an autistic child as I have to constantly stop him from trying to play with potentially dangerous equipment (including a sharps bin).
• Shorter appointments. Lengthy clinics are very overwhelming, especially for neurodivergent individuals that mask.

As a parent I am desperate for answers about how Oscar's CF care can be adapted to co-exist rather than clash with the fact that he is autistic.

I found a paper published this year from the USA about co-occurring autism and cystic fibrosis. The study conclusion was the most validating statement I've heard since my son started to find his CF care challenging:

Children with CF-ASD (Autism Spectrum Disorder) face extraordinary challenges beyond the experience of neurotypical children with CF. Increased awareness of this complex dual diagnosis will help providers be sensitive to the unique needs of these patients, help build consistent and trustworthy relationships with their families and deliver effective clinical care despite limitations.

It is very lonely trying to navigate a co-occurrence that almost nobody talks about. More discussions and awareness are needed in both the medical and CF communities. And I hope CF patients and their families can be made to feel less alone in the struggle of navigating co-occurring neurodivergence and CF through our story.

*names have been changed to protect anonymity

We are in the process of developing an information resource to support parents/carers of children with CF and autism. If you would like to be involved, please contact the Information team by emailing [email protected].

Our Helpline is also available to anyone looking for information or support with any aspect of cystic fibrosis, 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].

Get 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. They also provide some information on dealing with physical health issues however they do not link directly to CF.

If you are in crisis or need urgent help, find out who you can contact here.

Autistic Girls Network campaigns for better recognition and diagnosis of autistic girls and non-binary young people. They can sign post you to support networks, organisations and resources and provide a safe space to ask questions, raise concerns and share experiences.

Cystic fibrosis (CF) is a genetic condition which causes sticky mucus to build up in the lungs and digestive system. It affects more than 10,800 people in the UK. One in 25 of us carries the faulty gene that causes it, usually without knowing.

Since 1964, we've supported people with cystic fibrosis to live longer, healthier lives - and we won’t stop until everyone can live without limits imposed by CF.