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My son has duplication of 5q12.1 to 5q12.3

aisteb Message
18 May 2016, 12:01 PM

Hello, My son is 4 and he also was diagnosed with duplication in chromosome 5, which is de novo.He also gained a duplication in chromosome 12 from me, but it does not affect me nor my younger daughter. He is smart and bright little boy, started to speak early, but he has also lots of other symptoms: joint hypermobility, low muscle tone and weakness. Although his condition is not severe, it does worry us parents, what the future holds for him. We live in UK and I have hoped to get more support from NHS with physio etc. He does have though severe inward feet., so he always wears special insoles and shoes. He is gaining more skills, but you could see that he is not as strong as other children, He tripps a lot, cannot run properly, it is harder to hold the balance etc. few days ago he fell backwards down the stairs as he did loose his balance. Luckily he is absolutely fine, but it made me look for more information how I can help my son. Please could you add me to FB group as well? thank you.