Born: 2016 

Country: Northern Ireland 

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Journey to diagnosis​

Our journey toward a diagnosis began at the first scan around 11 weeks when we were told that Twin A (as Ada was called back then!) was around 11% smaller than Twin B (her brother). As the weeks went on, the size difference grew to the point where we were seen weekly by a specialist until her birth at just under 36 weeks. She was very small – 1600g or 3lb 6oz – and was rushed away to intensive care due to her size. Throughout pregnancy we were told to expect some sort of abnormality at birth – but miraculously none was noted other than her low birth weight. She only needed help to gain weight, and once she reached the weight they wanted was discharged. She was under the care of a paediatrician and dietician from birth due to prematurity, and on a special diet until weaning which went well. However, every milestone presented we noticed that Ada was far behind other babies at a similar age/stage (developmentally). Ada faced challenges with both gross and fine motor skills, struggled with coordination, and didn’t start walking independently until around the age of 2 and a half. Ada’s speech was significantly behind with her first word and words much celebrated many many months after her twin brother’s. She remained small in stature, barely maintaining the 2nd percentile for height, with many often commenting on her size compared to her age. 

In pre-school they noted that Ada had difficulties holding and using pencils and she was referred to Educational Psychology who carried out some tests. We were keenly aware that she faced significant delays in her speech, learning and movement compared to her peers. 

 

As Ada was under the care of the paediatrician since birth, reviews were every 6 months and eventually, in 2022, we were referred to Genetics who ran tests on Ada and us as parents. Whilst nothing was noted for us, Ada received a genetic diagnosis of CUL3-related neurodevelopmental disorder in February 2023, just 2 months before her 7th birthday. We were told this disorder was characterized by speech delay, learning difficulties and global developmental delay. It certainly helped explain all of the difficulties Ada had faced since birth, although I was very upset as little was known of the prognosis for Ada’s future and this still concerns me greatly. 

 

Following the diagnosis, we changed Ada and her brother Thom to a new school as we felt the existing school had not fully taken note of the condition Ada had. This was a revelation and Ada made friends her own age for the first time in her short life.  

 

Now aged 8, nearly 9, we are still fighting for Ada to receive regular speech therapy (there is a big problem in Northern Ireland with waiting lists) and she is working hard to progress in school. Her handwriting is coming on and she tries so hard to do her best. We pay for her to have a tutor once a week and this has been in place since her diagnosis.  We feel this greatly helps her.

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Current challenges

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Like most other families in a similar position we are always focused on helping Ada to learn and communicate. Right now we are trying to secure more speech therapy for her as she struggles with clarity. We are very grateful for her wide understanding and vocabulary, and for her joie de vivre! At school we are very watchful of what Ada is currently working on so that we can help her maintain and progress. I am particularly mindful that in just over 2 and a half years Ada will make the transition from primary to secondary education (aged 11) and that brings a lot of fears for us as parents. To date, Ada has had 2 heart scans which show a slightly enlarged septum but with no issues, however this will be reviewed annually til further notice. She is also awaiting an MRI of the brain which we have been waiting on a few years and probably have a few more years to go. As there is so much we don't know about CUL3-related neurodevelopmental disorder, including how it will affect Ada’s life as she grows up, I worry about things like regression and also progression. I think of where she’ll be, what support she will need. But then again I am overwhelmingly grateful for her presence as she brings such fun and love to all who know her. I try to live ‘in the moment’ and stay there in its safety for my sanity. I really hope that further research can be done to see if anything can be done to improve the lives of anyone living with this condition.​

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Reflections & hopes for the future

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Looking back, an earlier diagnosis would certainly have helped us focus on sourcing more relevant help for Ada. However, we are thankful we have a name to put to her condition and we have been on a journey since diagnosis which has been more positive. I am thankful Ada has a wonderful personality and is a kind and loving child. She is aware she has learning and speech difficulties and I really hope she can find a good supportive network around her as she gets older. I am keen to build a portfolio up for her with any and all information I can find on this condition and also to have some contacts for her, those living with the condition so that she can have people around her who have walked in her shoes and understand the difficulties she has faced.  

(Last updated: In 2025; age 8)