Kirsty was born seven weeks early due to a Strep B infection and spent the first three weeks in the Special Care Baby Unit. She went back into the hospital a couple of weeks after because she was holding her breath and going blue. When she failed to thrive, we thought it was just because of her bumpy start and were assured by family and healthcare workers that she would catch up. She did not gain weight from breastfeeding. She did not sit, crawl or interact at the ages our other three children hit these milestones, so we kept asking the Health Visitor and were referred to a paediatrician who gave Kirsty the Global Development Delay label.

Not having a diagnosis made every claim for assistance a struggle. Kirsty has an Education and Health Care Plan, which we were rejected for on first application and had to appeal. She also receives Disability Living Allowance and we have recently acquired a blue badge for free parking.

The road to diagnosis

She was sitting at one year, walking at two and began to speak at around three. She had appointments with so many different specialists. The physio taught her how to push herself up from lying to sitting. The occupational therapist gave us exercises for hypermobility as well as gross and fine motor skills development. The dietician prescribed high calorie milk. The ophthalmologist said she had astigmatism and prescribed glasses. 

I spent hours googling her symptoms and diagnosed her myself many times incorrectly, I thought we would never get an answer and I would always wonder if I had done something wrong to cause the delays. All of the baseline and microarray genetic tests came back clear, so we were referred to a geneticist at Oxford who signed us up for the 100,000 Genomes Project. Our blood was taken in 2016 and three years later we received the results, a diagnosis of OCNDS (Okur-Chung Neuro-Developmental Syndrome). 

Learning more about OCNDS

Kirsty was one of only 60 children to have been diagnosed with OCNDS although now that number has doubled, and it is predicted that there could be many thousands of other undiagnosed patients across the world. As OCNDS is an ultra-rare condition, there was very little information available. Luckily, a Foundation had been established by one of the parents in the US, so we finally had a community to be part of and felt like we belonged. 

Kirsty’s main symptoms are: short stature and low weight, speech delay, learning disabilities, microcephaly and autism. She also has problems with toileting and sleeping. She’s nine but is in six year old clothes and learning at the level of year one. She still uses dummies to comfort herself and can balance four on her face at once! People living with OCNDS have a varying range of symptoms and there is a wide spectrum of severity. Lots of the other people living with OCNDS have epilepsy and are non-verbal. As far as we know, OCNDS does not limit life expectancy and there are adults living with OCNDS, some of whom have jobs and live independently. The positive traits of OCNDS are that the children are happy, loving, determined, resilient and popular. Kirsty loves swings, trampolines, cuddles, babies, Barbies, Lego, Playmobil and Netflix!

Getting involved

We wanted to be as involved as possible with the CNK2A1 Foundation, so I applied to be on the Parent Advisory Board. We have just finalised our first project for a needs assessment survey and will be launching this in February. Other projects we are working on are: a brochure for families and healthcare workers / teachers about OCNDS, and a campaign to encourage people to sign up to Simons Searchlight, the natural history research programme for OCNDS and other syndromes linked to autism. Dr Okur and Dr Chung from Columbia University, who discovered the genetic change in 2016, are very much involved with the work of the Foundation, sitting on the Board, joining family zoom calls and conferences. 

The future

Kirsty is currently attending a mainstream primary school and whilst she is progressing at her own pace, learning to read, write and add numbers, the gap with her peers is widening and we feel it may be time for Kirsty to move into a school that can offer her a more specialised provision. We expect that Kirsty will probably live at home with us forever and be an adult with learning disabilities. The future is a mystery, but as long as she is happy and healthy – that is good enough.

To share your experiences of living with a rare condition please email [email protected].

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