Son With SMA BICD2 Gene Mutation
Last updated: February 2023
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.
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!
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