![]() She has been a Consultant in Clinical Genetics with a specialist bone genetics interest at Sheffield Children’s Hospital since 2012, and provides genetics input to the national OI service. Her MD is on atypical presentation of Osteogenesis Imperfecta (OI) obtained in 2012. ![]() J/ by CBMikeĭr Meena Balasubramanian completed her Paediatric training before undertaking specialist training in Clinical Genetics. Noah is such a happy, sociable and curious child, and we see his determination in everything he does. Noah is non verbal & uses makaton to communicate and although his signs are approximated, as a family it has become easier to understand him, he loves to sign his favourite animals and learns a lot from Mr Tumble! ![]() He loves swimming and splashing in water, playing with his assortment of vehicles and admiring himself in the mirror or photos! He also loves his little brother. He was exclusively NG tube fed for 2 months, until it was safe to introduce a bottle, then at 6 months we took his tube out for good and never looked back, he loves his food! He was an early roller but later than average with all other gross motor skills walking unaided around 2 years old. I then found the SATB2 family Facebook group ❤️ In the January we had an appointment with genetics who mentioned the SATB2 gene was included in this deletion. He spent 18 days in NICU and on day 15 we were told of his diagnosis of 2q32.3q33.1 deletion. Noah was born November 2016 and was initially diagnosed with Pierre Robin Sequence were told at birth he had a cleft palate, a recessed lower jaw and his tongue was blocking his airway. ![]()
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