For
Sam....
Hi there, thanks for dropping by, come into my cyber kitchen, pull up a
chair and stay a while and I'll tell you what
it's like to have a child with severe learning difficulties. Now where
shall I start?............
Sam was born
on 24th November 1990, after a pretty uneventful pregnancy. When he was
born he was given a clean bill of health, and although he had a strange
high pitched cry I thought it was because he was a small baby (5lbs 10oz).
I brought him straight home to join his older brother Tom 3 1/2 and sister
Hannah 1 1/2. I was totally unprepared for the way my life would change
for ever!
Life didn't carry on as I had expected.
Sam was an extremely difficult baby, he slept for only 20 mins at a time
(day or night), was difficult to feed, and cried continuously and inconsolably.
I hoped that these problems would be short lived, but as time went by I
started to get anxious. At 8 weeks he had a hernia repair, and I hoped
that he would now become a happier baby, but there was no change in him.
The continuous crying and sleep deprivation really wore me down, I felt
that I had a black cloud hanging around my head.
I was very concerned about Sam's weight
gain and development, and regularly visited the baby clinic. At 3 months
it was obvious that he wasn't developing as he should, and the medics finally
agreed to do some tests.
I spent the next year visiting various
clinics. He had his sight and hearing tested, brain scans, barium meals,
x-rays etc. All proved normal except the chromosome test which showed him
to have genetic material missing from chromosome 5, and another larger
piece attached in it's place. This is in only 18% of his blood cells, he
is a mosaic. Sam was diagnosed at 8 months as having CRI-DU-CHAT
SYNDROME, this I had never heard of and the news was not good, but
I was happy at least to have a diagnosis, and perhaps a prognosis. I started
finding out everything I could about the syndrome and went to my first
conference when Sam was 11 months old. I was horrified by what I saw, and
absolutely sure Sam would be a very mild case.
The early weeks and months were the
worst time for me as a mother concerned about the development and
health of my baby, I felt a whole range of emotions: disbelief
- am I being a fussy mother?; self-pity
- why me?; guilt - what did I do to cause
this?; frustration - why can't I get the help
I need?; grief - the death of the baby I thought
I was going to have; worry - about the future,
would I be able to cope, would I ever be happy again? At the same time
I had to deal with my very young family, and carry on life as normally
as possible.
Sadly as time went on I had to realize
that Sam is in fact a quite severe case. Progress has at times been painfully
slow, but all his milestones have been wonderful achievements. He smiled
at 12 weeks; reached out at 3 months; sat up at 14 months; commando crawled
at 2 years; crawled properly at 4 years and walked at 6 years.
Sam is now 9(sorry I need to update the pic) years old and attends
a special school. He can feed himself with a spoon (when he wants to, but as he doesn't chew,
all the food needs to be cut up very small. He understands most of what
is said to him, but he has no speech. He has been unwilling to learn sign
language, so at present we are experimenting with an electronic device
to help him to communicate. He can walk only on flat ground, and needs
to be pushed in a buggy when we go out. He sleeps ok now, but only as he
is contained in a large cot.. When he was 7 he had an operation to
stop him from dribbling which has been a great success.
Sam enjoys loud reggae music, swings,
books, noise toys and computer games. He tries hard to be naughty and has
a wicked sense of humour. He has an enormous, infectious laugh which engulfs
his whole body and makes it impossible for him to stand up. With this he
shows his obvious pleasure in life and greets me everyday with it after
school. He is very sociable and loves anyone who makes a fuss of him.
His older brother and sister (now 13&11)
cannot remember life without him and accept him as he is, they also play
their part in helping to care for him. He also has a younger sister Emily
(6) who accepts her role as Sam's big sister, though physically she is
much smaller.
I can't say it's easy looking after
a special child like Sam. everywhere we go we still have to take nappies,
toys etc. We are limited on things we can do as a family. Sam can trash
a room quite easily. We don't know what the future holds, and are constantly
looking for ways to help him develop. He needs constant attention and help
with his day to day needs. However, it is also very rewarding, we are experiencing
a different side of life. We have made lots of new friends and met some
wonderful children. Everyone loves Sam and life is certainly never dull!
Some common features of Cri
du Chat Syndrome:
High pitched cry; small head; learning difficulties;
poor muscle tone; feeding difficulties; communication difficulties; facial
characteristics; small frame and build.
Other associated conditions: Internal abnormalities,
hernias, refllux, curvature of the spine.
Despite what the medical textbooks say, Cri-du-Chat
children do not die in early infancy, they go on to lead long and happy
lives.
See
photos of Sam over the years Find
out how I feel about him now
