Harvard in Boston. She has news. Brinleys further testing revealed
mutations in two different genes (MY07A and CDH23) unfortunetely these
are Usher Syndrome Genes. For those of you that don't know what Ushers
is- it's complete or profound deafness at birth or profound loss by
age 1, balance problems and full vision loss by early childhood (age 5
or 6 however some make it to late teens before legally bling) Yes, it's a Deaf-Blindness Syndrome. I was told she
doesn't have Ushers in the common sense because both genes would need
to be affected and she only has one mutatation in two separate genes.
So complicated. Fast forward- the call was to inform us Brinleys
results were so rare, they have never been seen before nor do they
have any documentation on it. "Uncharted Territory". This now leaves
us with alot of questions. We're not sure what these mutations mean or
how they will impact our life but there's no looking back now. Only
looking forward-
