Rare Diseases Awareness Day 2024: Cornelia de Lange syndrome (CdLS)

This Rare Disease Day we would like to take the opportunity to shine a spotlight on a specific rare disease, Cornelia de Lange syndrome (CdLS). CdLS is a rare genetic disorder generally discovered at birth. Affected individuals can have distinctive facial features, growth delays and limb abnormalities. The exact prevalence of CdLS is difficult to estimate because individuals with milder or variable features can sometimes be unrecognised, however the published prevalence is estimated to be between 1 in 10,000 and 1 in 30,000 live births.¹

We interviewed a father of a young boy called Niko, aged 7 years, who has CdLS to find out how living with this rare disease impacts Niko’s life and expectations for his future. Read Niko’s story below.

How did you first learn about Niko’s condition?
We first learnt something was wrong about halfway through the pregnancy; Niko wasn’t growing well and had all the traits of having a genetic syndrome (by the traditional measures possible with ultrasound scans), but nothing tested positive with an amniocentesis, so it was a stressful and scary time. We didn’t find out Niko had CdLS until Niko was born and, luckily enough, our geneticist had seen a case of CdLS before, so was pretty sure what the diagnosis was within the first few weeks and could confirm it with a genetic sequencing test in the first six months.

How has Niko’s diagnosis impacted you as a parent?
Niko was born 5 weeks prematurely and spent 7 weeks in the neonatal intensive care units of the Royal Manchester Children’s Hospital and Macclesfield General Hospital. His actual diagnosis was, at the time, part of a huge rollercoaster of emotions as he was in the high dependency unit for a long time and had a major operation within the first few weeks. Our priority was more on getting him well enough to come home. Once he was home, this was where our learning journey into CdLS really began. We had to become the experts in Niko and CdLS, his physical, emotional and mental behaviours. This helped us immensely with all the conversations we had communicating his needs to friends and family, to specialists and to everyday people such as nursery staff, flight attendants, hotel staff – you name it! Niko was tube-fed 3-hourly for his first 6 months which had a huge impact on us as parents as each feed could last an hour. He was eating blended food for his first few years and even then, he was probably sick 3 or 4 times a day. Life was hard for him, but as his character emerged, we could see he took it all on with an inner strength and a smile which gave us the strength we needed.

How well informed were you about CdLS when Niko received his diagnosis?
We had never heard of CdLS when Niko was diagnosed, but we found out everything we could within the first 6 months of his diagnosis. Still, no amount of ‘academic learning’ could compare to the experience of attending our first ‘CdLS UK and Ireland Society’ meeting; we no longer felt alone in our journey, all the challenges we had faced were ‘normal’, the expert speakers had so much experience with the condition, we were surrounded by families who had, or were walking the same path we were on. It’s almost impossible to say how valuable that was to us from both a knowledge and emotional and mental perspective.

What is the impact of CdLS on Niko’s quality of life?
Niko is mildly deaf but wears hearing aids – most of the time – and needs glasses – which he wears sometimes! He is doubly incontinent, so still in nappies. He learnt to walk when he was 5 years old, prompted by his (first) younger brothers’ early steps – this was amazing because we had no idea if he would ever walk. He is non-verbal but very musical, so we have learnt to understand his needs through his tones, sounds, body language – it is like learning another language but not having a phrasebook! He is an adventurous, brave and determined little boy, always happy playing out a rhythm and humming a tune. He now has two younger (able-bodied) brothers who have learnt to understand his needs and are full of love and patience. Music and song are a big part of our lives as a family, they understand that he has ‘different building blocks’, but in the way children do, they don’t judge, just accept and adapt.

How is Niko’s condition managed?
During the early years, Niko had almost bi-weekly local support from physiotherapists, teachers of the deaf, audiologists, ophthalmologists, occupational health, speech and language therapy and needed specialist adaptions and equipment. He also had appointments in Manchester with cardiologists, geneticists, gastrointestinal specialists and urologists on a regular basis – he had, and still has, a wonderful support team! He is almost 8 years old now. His appointments are less frequent with consultants, but he regularly sees physiotherapists, audiologists and speech and language therapists; all of which are managed through his specialist educational setting, Park Lane School, a truly amazing place with so many dedicated teachers and staff who support and manage a whole range of rare and specialist conditions.

Have you seen any improvements in Niko’s condition?
His physical burden is less, and being able to walk short distances has given him a sense of freedom which opened up the world to him. However, now we have different challenges; he wakes up 5 out 7 nights and may be awake for 20 minutes to 2 hours. This has a huge impact on his behaviour; when he is very tired he eats and drinks less which can cause knock-on effects, such as bad constipation, reflux and poor immune-function leading to regular respiratory infections. This also impacts us a lot as a family; juggling work-life, school-life and home-life can be a real challenge for us all!

What are future expectations for Niko?
The future for Niko is a blank canvas as there is no documented case of his specific genetic variant. We genuinely have no idea how things will turn out – but he has already surpassed many of his challenges, such as being able to walk. Our responsibility as his parents, and family and carers, is to provide him with the environment where he can lead his best life, write his own story and enjoy every moment – perhaps a philosophy we should all adopt.

What advice would you give to other parents caring for a child with CdLS?
Practically, it would be to reach out to your local society – they are a wealth of knowledge, experience and advice. The value of these, often self-funded, societies – for us it was CdLS UK and Ireland – can’t be underestimated. But this feeds into the advice I would give on a mental and emotional level: you are not alone, even with the rarest of conditions. Lastly, it would be, ‘You can do it!’. It’ll be hard, it’ll be heartbreaking at times, but you can make every day positive, joyful and full of love for you and your loved one.

Given you work in the medical communications industry, does your scientific knowledge help your understanding of CdLS?
Nothing could prepare me for those initial conversations around Niko's diagnosis, the personal nature of the situation transcended any exposure I had previously working in medical communications or even on a rare disease . But what it did mean is that it was easy for me to look in the right place to find resources, data and papers on CdLS. It really highlighted the importance of the pharma-patient society relationship and how pharma and medical communications as a whole could have a huge impact facilitating access to educational resources to support not just healthcare professionals but also patients, families and carers.

What does Rare Disease Day mean to you?
RDD for me is about 'community', in many senses: it's  supporting and raising awareness of the wider rare disease community and a sense of belonging to a passionate and engaged community. It is also about celebrating, as a community, the individuals with rare diseases who face struggles on a daily basis, the people who dedicate their time to care for them and the wider community of healthcare professionals and pharmaceutical companies who manage, provide drugs and treat these individuals. Lastly, it's about bringing new people into the community, sharing our stories and our lives, because you don't have to have a rare disease to be passionate about supporting people and wanting to make a difference. We can all help in some way, no matter how big or how small the contribution is.

Rare diseases, such as CdLS, can be difficult to diagnose and manage and have a significant physical and psychological burden on affected individuals and their loved ones. Find out more about CdLS by visiting the CdLS UK and Ireland Society website:https://www.cdls.org.uk/.

 References:

1. Kline AD, et al. Nat Rev Genet. 2018 Oct;19(10):649–666.