Son With SMA BICD2 Gene Mutation

My son was born with dislocated hips and deformed feet, its been a long road of appointments, tests etc. for diagnosis.

This week, his diagnosis of a very rare form of SMA has been confirmed through genome testing. We are not carriers as it is a mutation in genes "de novo" we are trying to find out more info and support from groups etc. as very limited knowledge on his particular SMA is known.

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It is also a relief to finally have answers though and to move forward on this new journey, positive vibes and connecting with others is our aim as a family now, hello to all other SMAs and their families! Me and my littleman

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