top of page

Alfie’s Story 


Born: 2019 / Age: 4

Country: United Kingdom 

Journey to diagnosis

Alfie’s 8 week baby check revealed a heart murmur and we were referred to the cardiologists at our local hospital. He was diagnosed with aortic stenosis. A narrow aortic valve that will need monitoring and then an operation later in life but can be lived with in early years as long as the heart is coping.


During the pandemic and being at home just the 4 of us (Alfie has an older sister Livi without the gene mutation) it was difficult to see whether Alfie was developing at the same pace as others. We were lucky to see a doctor during the pandemic to check his heart and get a prescription for his painful reflux/colic.


Alfie loves plastic bottles – water bottles or sensory bottles – he loves them all. He shakes them in front of his face and near his ears to hear the noise. He also loves books – Bluey, Peppa Pig, In the Night Garden. He will hold them up to his face and take comfort from the characters – he is not interested in the shows. He loves nursery rhymes and being sung to. Oh…and baby shark!

At 6 months weaning was impossible – Alfie refused all food – struggled to sit up (the pain of reflux maybe) and we started to notice gaps in his development. His weight had stalled and he was very immobile and barely crawled before his first birthday.


At 1 year old Alfie started at nursery – but his sessions were just tears, panic and blank moments. This continued – even when his sister was with him. He would take time to readjust when home too – almost like he didn’t recognise us.


We asked his cardiologist to check it wasn’t impacting his heart and she noticed some triggers in Alfie – hand flapping – blowing raspberries – in his own world – all of these we knew and we now suspected autism.


Alfie saw a neurologist at approx. 15 months old – who immediately ordered some tests – brain MRI, hip xrays and genetics and in total over the next few months we had referrals to 13 different specialists in different fields including: OT, physio, audiology, dieticians, portage (specialists in autism), cardiology, neurology. He was diagnosed with global development delay.


Alfie’s brain MRI came back clear and his xrays on his hips were also fine. Nothing so far explained Alfie’s lack of mobility or his lack of development.


The results for his CUL3 diagnosis arrived a year later. We looked out for all research available and there was very little research about CUL3 in medical journals or anywhere on the web. Joining facebook groups/twitter were the first start and that’s how we came across this group and it has made a huge difference to our knowledge.

At 2.5 years, Alfie’s neurologist diagnosed Alfie with level 3 autism.

Current challenges

Alfie is non verbal with very limited communications and does not walk. He has sensory issues especially around his head and needs a lot comfort and closeness.


Reflections & hopes for the future


I would like Alfie to learn to have some independence even if it is just to feed himself one day but ultimately to be happy with a sense of being safe and loved. 


It would be lovely to see him walking and to hear him speak.

Last updated 2023

bottom of page