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Posted by Catriona
on June 5, 2009, 22:25:34
82.27.178.219
Dear all,
I've posted before about Amy's developmental problems, and how isolated we've felt. So I thought it was worth updating on her, as we've finally been given a diagnosis.
Today a specialist at Great Ormond Street (we've all but given up on neurology at the Evelina, which compares most negatively with the excellent cardiology dept) confirmed that our brave and beautiful little girl has Rett syndrome, which is a developmental disorder caused by a faulty gene that affects mainly girls. It's a far-reaching condition, affecting almost all aspects of Amy's life (don't we know it!), but it isn't degenerative, so she should remain stable.
It's unlikely that Amy will be able to communicate through speech, or even sign language, as her ability to use her hands, or to copy, is very limited. We continue to hope that she might be able to walk one day. The various therapies that she's already having will continue - now that we know what underlies her disability, we should be able to focus on the sort of things that may help her most.
What is interesting - to us and the health professionals - is that there is no known connection between the defective gene that causes Rett syndrome and congenital heart defects. We've been told that we are simply doubly unlucky. So I guess our story won't have much relevance to most parents of heart-children - but I'm posting here because it may be a useful illustration of the importance of trusting your instincts as parents, pushing for answers, and not being put off by anyone who accuses you of being hysterical or paranoid about your child's development.
Our focus now is to help Amy enjoy her life as much as possible, to achieve as much as she can, and above all just to be a normal family. One fortunate aspect of Amy's condition is that she is very sociable and affectionate, and loves being around people and being part of whatever is going on. We feel lucky to have her, and committed to doing the very best we can for her, despite all the anxiety!
Thanks to everyone who has supported us thus far - Amy will remain a 'heart-child', in addition to all the other stuff.
Catriona x
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