Infomation, support and ideas for children with disabilities and the parents and families of children with disabilities.
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3 months ago, I gave birth to a special little boy called Noah Sebastian. Noah is not like other little boys. Noah is unique. In my womb, he was diagnosed with a congenital heart defect. They said he might have chromosomal abnormalities. I was offered an amniocentesis, but declined, knowing I would never terminte in any case. Noah was born after 7 hours in labour, induced at Guys Hospital in London, on August 24th 2001. After a quick cuddle, he was whisked away. Shortly after, I was told he had hand contractures and rocker bottom feet, and his willie had a funny shape. But hey, he was breathing and that was all I cared about. After 2 days in NICU, he was finally diagnosed with a rare CHD called pulmonary artery sling. I found out soon that the mortality rate is very high in the first few months of life. But surrounded by cardiologists and cardiac surgeons, I knew we were in good hands. After further testing and scanning, they could see he had a malrotation of his intestines, that needed repairing before too long. he was operated for that at the day he was 2 weeks old. Shortly after this surgery, we found out he has a unique translocation of two chromosomes, 4p+ and 18q-. I guess this tells you nothing.. Thats what it did to us, as well. We were told that most of Noah's features was because of this translocation, and that it was unique. Meaning that he was the first reported case with this exact kariotype. He had his heart surgery at 4 weeks old, followed by seizures and cardiac arrests. One pediatritian asked us if we wanted to withdraw care. No way!! Noah was in hospital for the first 7 weeks of his life.He has also been diagnosed deaf. We love him dearly, but I have to admit that having a baby with a unique syndrome is very lonely. Theres noone you can ask what to expect, noone who can tell you how their kid did. This is where Unique came in as our lifesaver. Unique is an organisation for parents of or people suf
fering from unique chromosomal abnormalities. The people who work there, are absolutely fantastic, and I want to mention Beverly Searle in particular. Shortly after becoming members (which by the way is FREE!!!), we got a huge mailing with lots of case reports of similar abnormalities, combinations et.c., and lists of defects that is normal for the individual chromosomes that he has that is abnormal. They sent us lists of other families affected by the same individual chromosome abnormalities, and families living locally. They have a WONDERFUL newsletter which goes out every few months that has stories of families in our situation. Thanks to Unique, we are no longer lonely!! Unique is a registred charity, and accept donations. Please visit www.rarechromo.org for information, or just to browse the site!! Thanks for reading my opinion!!
I have a three year old daughter who was diagnosed with Cerebral Palsy at 22 months. I had known that there was something wrong with Keisha the day she was born, but no-one would listen to me. She would twitch intermittently from birth. That was the only sign of something wrong until she came off breast milk onto formula when I went back to work when she was 6 months. The change was instant. She was suffering from chronic constipation. It was absolutely heartbreaking. The first time it happen, I didn't know what was going on. When I told my health visitor she told me I must have reduced her fluid intake despite the fact that I was almost screaming at her that I had done no such thing and that there was something wrong with my baby. The next clue was that she could not sit up properly. She arched herself over and drew her feet inward. I now know that this was because of contractures. She started crawling about 10 months old, but would use her arms to drag the rest of her body along (Commando Crawling), the health visitor was still not concerned. Nor was she concerned that at 12 months she could not stand up unaided, not even how very young babies can, stepping with their legs. At 18 months, when she was still not standing up or walking, the health visitor finally referred me to the Paediatric Orthopaedic Surgeon. He started talking to me about breaking my daughter's ankles and re-setting them because she could no longer put her feet flat on the floor, but he suggested some physiotherapy session first to see if it corrected itself. It did not. It got worse. So, four months after the initial appointment I was called in for an appointment with the Paediatric Neurologist who proceeded to tell me that my daughter had Cerebral Palsy - brain damage. She then went on to ask if I had any explanation as to how that could have happened. Could I remember any incident. Well, I'd had a severe car crash five months into the pregnancy
, but she said it couldn't have been that, it would have been around the time of birth. So then I went on to the delivery, but that wasn't encouraged as much as any other thoughts I might have had. But I'll tell you here now: After several hours in labour at home, I arrived at the hospital at 3:00am Saturday. By 1:00am Sunday my daughter still had not been born and my waters had not been broken. I had been 8 centimeters dilated for many hours but I felt as though I was about to tear in two - I screamed at them to do something - they finally broke my water and I progressed to the full 10cm some 27½ hours after the onset of my labour. They prepared me for an emergency C-Ssection, but tried forceps and Ventuse before performing the surgery. I cannot say this was definitely the reason for my daughter, but I cannot say it is not either. The Neurologist talked down to me the whole time as though I was some illiterate fool. Little did she know! She gave me no information except to say that she would not grow out of it. She would one day walk, but they would not be able to tell me how long it would take. She is three and three months now, and she still cannot stand up unaided. She is beautiful, bright, funny and extremely cheeky, full of life and independence and I am honoured to be her mum My situation is not uncommon. 'The Professionals' always think they know best. Well time and time again they are wrong. I advise any parent who truly believes there is something wrong with their child to keep pushing the issue. Don't give up. Keep a record of all the signals and make someone listen to you. I know that leaving opinions isn't about self promotion, but I have created a website that gives useful links to the information that all parents need after a diagnosis of Cerebral Palsy and other disabilities. A link to the website is in my profile if you care to take a look - I just want to help other parents wh
o find themselves in my situation. www.writer29.pwp.blueyonder.co.uk Nikkie