Petersfield, Hampshire, England
Myself and my wife Beccy are the proud parents of Amy who is now 4 1/2 years old. Amy was born on 12 May 2002 in Portsmouth, England. Although over 4 years ago the memories of that day are still very vivid. We already had two sons Sam (Now 9), and Jack (now 7). We were both from very male dominated family's, myself being one of four boys, and Beccy's family having had nine boys in total including our two. Therefore we were very much expecting another boy, and when Beccy had to visit the hospital a few weeks before the birth the nurses all but confirmed this.
The birth itself was very painless. We arrived at the hospital at 8.00pm and Amy was born at 10.05pm. The euphoria when we realised we had had a little girl was just overwhelming. Neither of us could believe it and I was so delighted for my wife who was desperate for a little girl. Everything was fine and as Amy cuddled into Mum we were left alone by the midwives. We were on top of the world and were talking about how amazed everyone would be. Beccy could not wait to tell family and friends. However after about 15 minutes alone the midwife came back in and she almost immediately mentioned that she had some concerns about Amy and that she had asked the pediatrician to take a look at Amy. When we asked what the problem was she said that she was showing some of the classic signs for a Down Syndrome child. Although her facial features were mild, her tongue was slightly protruding and the midwife had noticed the crease on her foot, the spacing of her big toe, and she had 3 soft spots on her head. The world seemed to freeze there for a good 5 minutes. I did not make eye contact with the midwife, nobody said anything, we just wanted the world to rewind 5 minutes to when we were chatting about our beautiful girl. The pediatrician came in and confirmed that she shared the same concerns as the midwife but that they would need to run tests.
We did not know what to say to each other as we were both in shock. We had stopped cooing over our new baby as it seemed she had been snatched away from us and replaced with a new baby. Our families would all be waiting excitedly by the phone to here news but now what would we tell them, how could we tell them. Why, why, why, was all we seemed to say, and my wife was asking what she had done. What could I say, it broke my heart to see the pain in her face. I eventually called my mother and broke down the second she came on the phone, and she passed word to the rest of the family before coming down to the hospital. I stayed at the hospital with my wife for the next 4 days and nights, I think the longest and most agonising of our lives. She had blood tests, heart scans etc. The midwifes were fantastic but we got fed up hearing that 'they' were lovely and affectionate children.
We saw experts who explained about Down Syndrome and at this stage they mentioned Mosaic and translocation but said to ignore these as it was highly unlikely she had either of them as they were very rare. Anyway I returned to the hospital a few days after going home to be told that it was Mosaic Down Syndrome and that they were amazed. This did lift our spirits, although we were still struggling to come to terms with the diagnosis. Our families were very supportive but it was very difficult to be positive when we were still very unsure of what the future held. We slowly got in the routine of taking Amy from specialist appointment to specialist appointment, and Amy's health was generally very good. At around 8 months old Amy was diagnosed with a small ASD by the heart specialist, however this did not require any corrective surgery, and at her last check up they were fairly sure that the hole had closed. She has a further check up planned for Jan 2008 which will hopefully confirm this.
As everyone who has been through the same experience will appreciate there were still bad days as we gradually repaired our broken hearts. I think we have coped very well with things and to be honest after the initial year when our families were constantly offering support, we have been left to get on with things. We soon found the IMDSA website and it really was invaluable. We knew very little about Down Syndrome and even less about Mosaic Down Syndrome, and therefore the stories, and medical information have given us not just knowledge, but also great hope for the future as we read about the development of other children. My wife has been fantastic and her contribution to Amy's development has been amazing, she never stops doing things with her to help her development and Amy loves to learn. She also had a weekly portage visitor who was fantastic and became very close to Amy. She has now started her first year at school and is making friends, and developing really well. She does have some speech delay but this just seems to be coming on leaps and bounds at the moment. She is absolutely adorable and affects everyone that she comes into contact with. Her brothers have also helped her, and love her to bits. She has a wicked sense of humor and never fails to put a smile on your face. She loves dancing and singing and goes to ballet class each week.
Although we both still have concerns about the future, we have learnt to take things as they come, and not start thinking about too far down the line. We are confident she will continue to flourish and have been helped tremendously by all the heartwarming stories that we have read on this website. I hope to post a picture of Amy on the site soon so that you can see our cheeky girl for yourselves.
We did not know what to say to each other as we were both in shock. We had stopped cooing over our new baby as it seemed she had been snatched away from us and replaced with a new baby. Our families would all be waiting excitedly by the phone to here news but now what would we tell them, how could we tell them. Why, why, why, was all we seemed to say, and my wife was asking what she had done. What could I say, it broke my heart to see the pain in her face. I eventually called my mother and broke down the second she came on the phone, and she passed word to the rest of the family before coming down to the hospital. I stayed at the hospital with my wife for the next 4 days and nights, I think the longest and most agonising of our lives. She had blood tests, heart scans etc. The midwifes were fantastic but we got fed up hearing that 'they' were lovely and affectionate children.
We saw experts who explained about Down Syndrome and at this stage they mentioned Mosaic and translocation but said to ignore these as it was highly unlikely she had either of them as they were very rare. Anyway I returned to the hospital a few days after going home to be told that it was Mosaic Down Syndrome and that they were amazed. This did lift our spirits, although we were still struggling to come to terms with the diagnosis. Our families were very supportive but it was very difficult to be positive when we were still very unsure of what the future held. We slowly got in the routine of taking Amy from specialist appointment to specialist appointment, and Amy's health was generally very good. At around 8 months old Amy was diagnosed with a small ASD by the heart specialist, however this did not require any corrective surgery, and at her last check up they were fairly sure that the hole had closed. She has a further check up planned for Jan 2008 which will hopefully confirm this.
As everyone who has been through the same experience will appreciate there were still bad days as we gradually repaired our broken hearts. I think we have coped very well with things and to be honest after the initial year when our families were constantly offering support, we have been left to get on with things. We soon found the IMDSA website and it really was invaluable. We knew very little about Down Syndrome and even less about Mosaic Down Syndrome, and therefore the stories, and medical information have given us not just knowledge, but also great hope for the future as we read about the development of other children. My wife has been fantastic and her contribution to Amy's development has been amazing, she never stops doing things with her to help her development and Amy loves to learn. She also had a weekly portage visitor who was fantastic and became very close to Amy. She has now started her first year at school and is making friends, and developing really well. She does have some speech delay but this just seems to be coming on leaps and bounds at the moment. She is absolutely adorable and affects everyone that she comes into contact with. Her brothers have also helped her, and love her to bits. She has a wicked sense of humor and never fails to put a smile on your face. She loves dancing and singing and goes to ballet class each week.
Although we both still have concerns about the future, we have learnt to take things as they come, and not start thinking about too far down the line. We are confident she will continue to flourish and have been helped tremendously by all the heartwarming stories that we have read on this website. I hope to post a picture of Amy on the site soon so that you can see our cheeky girl for yourselves.
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