Sams mother talks about Sams life and how Cri Du Chat effects him. 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.
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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.
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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! Jens story My name is Jen and I'm from Minnesota - USA. I am 34 years old and I recently have gone through the most traumatic events of my life.
At 18 weeks of of my "normal" pregnancy - via amniocentesis - my baby was diagnosed with CDC syndrome. At the suggestion of every medical professional/ counselor that I spoke with over the last week - it was strongly recommended that I terminate the pregnancy. After much souls searching and researching over the internet, my husband and I decided this was the best option. We were told that the baby would most like die before term or would die in early infancy due to medical/physical complications. I had the procedure done on April 16th, 1999 at 19 weeks of pregnancy. It was the most tragic and heart breaking thing I've ever been through. I now have my doubts over what I had done, but I was barely given time to think things over and due to the overwhelming evidence of how these babies lives are, I thought I was doing the right thing.
Now that it's over and I can think rationally again. I'm not so sure. I unfortunately didn't find any useful web sites. I could only find statistical medical journal stuff and some pictures of CDC children - some of which were horrifying, others were re-assuring. I was looking to find out how this syndrome would affect my every day life, what impact it has on other children (I have two daughters), and I wanted to know how I would managed to cope. Since my husband and I both work full time (and barely seem to make ends meet most of the time), I couldn't see bringing a child with such severe handicaps into this world. I couldn't quit work to care for a baby 24 hours a day - I couldn't give it up for adoption and I certainly couldn't afford to hire someone full time. How could I possibly afford the cost of an institution or special schooling which this child would need? How could I handle having a child that most likely couldn't speak or communicate effectively? How much pain and embarrassment would it cause my other two children? The agony of decision still haunts me.
I do believe that if I continued the pregnancy, we would have coped some how. Now with modern technology, you can find these things out ahead of time, but it's not always a good thing. Incidentally my baby (boy) was missing (on chromosome 5) from band p15.3 through p15.1. Depending upon who you talk to, this can be considered a micro deletion, but you only have to be missing part of p15.3 to have some symptoms of CDC. The baby was also missing just a micro portion of chromosome 22, not enough to cause full blown DiGeorge syndrome, but enough to cause problems of some sort. Also - with chromosomes 5 and 22 stuck together, they couldn't predict what problems that would cause, since they don't have any documented cases of children with this particular occurrence. The geneticist stated that our baby would have a very severe case of CDC.
No one can ever provide me with the assurance that I did the right (or most humane) thing.
Everything is still so raw and emotionally painful for me right now, that it's easy to have my doubts and guilt. As each day passes, I feel better and I know with time this will all become a bad memory. Logically I know there was no other choice, but it's impossible not to be emotional about it. All of your hopes and dreams for your child are lost This was to be my last baby (and since it was a boy - which we really wanted - it made it so much harder).
My husband is relieved that it is all over, and emotionally he's fine. It's harder for me since I obviously was more "in touch" with the baby. I felt it moving right up until the termination - which was really traumatic. Even though I know the horrors associated with this syndrome you can't help but know that you are destroying a child, regardless of the child's disabilities.
I will get on with life, but it will be a long while before the sadness fades. I know now that I will try again for another baby. There was nothing wrong genetically with either my husband or I and fortunately we don't have any trouble getting pregnant. I know I will have another amnio at 14-15 weeks and I certainly won't inform anyone of the pregnancy until after that. I know CV sampling can be done at about 10 - 12 weeks, but I don't like the potential risks to the fetus associated with this test. I'm just thankful that I have two wonderfully healthy daughters (ages 3 & 4) that keep me focused on life. I just pray that I'm fortunate enough to have a normal baby - something I took for granted with my first two.
stories taken from http://cjh.virtualave.net/cri-du-chat/ |
