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Emily
was born May 30th, 2001. She was a healthy baby, and quickly settled into
our family. Her big brother Alex bonded with her from day one. Emily progressed
normally until nearly a year old, but she never slept through the night.
We thought that would come in time, the only concern i had was that although
she shuffled on her bottom, she would not try to pull herself up or try
to walk. I could hold her up, but she would bend over and stick her bottom
out and try to sit down again. She thought it was a game. I
mentioned my concerns to my doctor and health visitor and they told me
that as she shuffled she may just be a little late to walk. Emily was
fine in every other way. She ate everything we gave her, used her arms
normally and got round quickly enough on her bottom, but obviously could
never manage stairs.
By the time she was 18 months, I had again expressed my concerns (as had
her nursery) and my doctor agreed to refer her to see a specialist. We
saw him and he saw that her achilles tendons were tight, so referred her
to physiotherapy.
We carried on in this way for a while, and i took Emily
to physio every week. She had piedro boots and did improve a little, but
hated every minute of it. She would scream and cry until it was time to
go, then as soon as I got her coat, she would smile and wave bye bye to
them all!!
While this was going on we had various tests performed.
A "CT" scan, skull x-rays, EEG and lot of blood tests. Everything
came back normal. Emily had a couple of infections and went into hospital,
but with antibiotics she was fine.
The consultant had referred her for a "MRI" scan, but the wait
was really long. We tried everything we could to get it done quicker,
but to no avail.
By the time Emily reached 2 years old, she
was starting to deteriorate. We didn't notice at first. ( looking back
at her 2nd birthday she was slightly slumped to one side in her chair,
but it is only with hindsight that I can see this, I didn't at the time)
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