Craniosynostosis and a chance encounter

by | Feb 16, 2023 | Blog, Patient stories, Rare disease world

This week’s blog is written by Tracey Harney, who is the proud mum to Isobelle!

Tracey shares her rare journey and the chance encounter that led to Isobelle receiving a diagnosis.

Spoiler alert!

You may know the nurse Tracey met!

Earth Angels really do exist!

Our little girl, Isobelle, came into our lives during a world pandemic; she whizzed through birth and all seemed well; a generally happy and healthy baby, a little more fussy than her big brother but nevertheless seemingly happy and content; we felt and are so lucky.

I had highlighted her head shape and size, as well as her fontanelle not seeming to be that soft, to the health visitors, but my concerns were comforted by claiming I had a similar shaped head, and she was just tall and slim so had a head shape to match.

The first year I noticed she had autistic tendencies and often head bashed, Isobelle also appeared comforted by sensory play more than any other babies I knew. Isobelle was delayed in speech and other cognitive developments; but again, I was comforted by professionals that she ‘was just a covid baby and will catch up’.

By the summer of last year, it was recognised that Isobelle did display traits of Autism from a Community Paedetrician so I pursued the relevant avenues of support and guidance.

Summer events with other families lead to a chance meeting with a clinical research nurse who had cared for children with Sagittal Craniosynostosis, Naomi. Naomi seemed strangely interested in Isobelle, her behaviour and how we felt about this. At the time, I wasn’t aware of her profession and just put it down to being a little nosey! (Naomi now works in rare patient advocacy!)

During a softplay party, I mentioned to Naomi about the head banging because of her potential Autism and she said she could no longer hold in her thoughts.

Naomi explained what her professional background was, how she had worked at Great Ormond Street and that she felt Isobelle has Sagittal Craniosynostosis, and that the head banging could be due to pressure and pain in the skull. The noise stopped and my heart started beating faster and the tears began to fall. Naomi was so kind enough to exchange numbers and give me all the information I needed to go to the GP and where to get support from.

Headlines ( were amazing at providing me with next steps and what to do. I booked an appointment with the GP the next day. My heart racing all night, I headed to the GP in hopes of some answers. They googled the condition and told me the only thing they could do was refer to the nearest hospital. My heart sank; we needed a referral to one of the 4 hospitals, and it wasn’t happening.

I left with a tear held back and felt that our world was falling apart. Determined this was not enough, I emailed Liverpool Alder Hey direct to their craniofacial team with photos and videos of Isobelle. They wrote back within 20 minutes and said they wanted the GP referral and to take the email as evidence along with confirmation they would provide funding.

The referral happened and we are now under the care of The Craniofacial Unit at Alder Hey. I thank our lucky stars every day. When you meet someone who seems to give you the missing piece of your puzzle, you know it was meant to be; Naomi will be our forever Earth Angel. Despite having been missed by multiple health professionals, we can rest now knowing Isobelle will get the best care for years to come.

If anything, what I hope our story tells others is that you should trust your instinct and keep pushing for answers; no question or concern should ever be put aside. I also hope that spreading awareness of Craniosynostosis will ensure that other families are less likely to be missed and they get the support they deserve.