When River was 8 weeks old he developed Plagiocephaly, to which triggered the GP to get River seen by the pediatrician (Dr Phillips based at Burnley Hospital in Lancashire). By the time he got seen he was 10 months old, and not reaching “normal” milestones such as holding himself up in a sitting position and crawling. It was when he was 11 months old when he started commando crawling. River also began to develop amblyopia in his left eye by this time and was still not even babbling. The pediatrician also started to become concerned with Rivers' development and also about his soft spot as he felt around 12 months old Rivers had already fused together, so there was a concern for craniosynostosis. To this Dr Phillips sent us for an X-Ray on Rivers skull to check for craniosynostosis. This showed his skull had not fused together, but Dr Phillips was not convinced so decided to send us for an MRI scan on his head. This was when he was 12 months old, he still was not walking and still commando crawling, and still no words or babbling. He still did not use his pincer grip as well. When he was 14 months he eventually had his MRI, his MRI showed that Rivers Tubulins were entwined and Dr Phillips suggested we had some genetic testing for River. He also put River in Physiotherapy for his walking as he was still only just crawling at 14 months. He was also put under the dietician due to not gaining weight. At 15 months old River had his bloods taken for his genetic testing and so did mum and dad. After a long wait and just 2 days after his 2nd birthday, we got his results. Tubb3 variant c.1138C > T. p(Arg380Cys). Mum and Dad was already slightly clued up due to it being suspected Tubulinopathy and joining the Facebook pages and gaining quite a bit of knowledge from the online sources and the Facebook page. River is now 2 years, 4 months old. He is the most loving little boy, he still does not walk but is beginning to take little steps. He is awaiting an EEG to check for any epilepsy as we suspect he is having absence seizures. He says lots of words now. His favourite thing in the entire world is his guitar and Dad even got him a real big boy guitar for Christmas which he loves. River is my first child so I have nothing to compare him to in terms of development. But I do know I would not have him any other way.
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