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As I watched the 'normal' kids singing at the school, I felt like a knife was stabbing at my heart. "Why me? It isn`t fair! How will it affect me, my husband and our other four children? Will our lives ever be the same?" We had the choice to end the pregnancy, but although I was terrified of the future, I still wanted to love and protect my baby. I found the strength to get through the rest of the pregnancy. My baby also had a heart defect that would need surgery when he was 3 months old, so this was an added worry. Often my imagination got the better of me, and negative thoughts crept in.
Finally he was born and after many tests, handed to me. I was afraid to look at him, but when I did I was amazed at his beauty. I put him to the breast and as our eyes met, I was hooked forever. A bond that will never be broken, unconditional love flowed between us. He has just turned one and is the pride and joy of our family. We could never be without our beautiful, healthy Jamie who has filled our hearts with so much joy and happiness. I thank God each day for such a special child. Good luck to any new parents, enjoy your special child too.
What is Down syndrome?Click here to go to our New Parent Support Folder for more information on Down syndrome.
Down syndrome occurs because of a chromosomal abnormality present at birth and is the most common cause of intellectual disability. It effects 1 in every 860 people and is seen in all ethnic groups. It gets its name from the 19th Century English physician Dr Langdon Down, who was the first to describe and record common characteristics of people with this condition. From his name we get the word "Down". The word "syndrome" means a group of signs or symptoms that occur together to characterise a particular condition; hence Down syndrome. In 1959 French doctor, Jerome Lejeune, discovered that people with Down syndrome have an extra chromosome. This relatively recent discovery is very important for medical and social reasons, as it allowed medical researchers, parents and the general public to have accurate information about the condition and its implications.
How Does Down syndrome Occur?People unaffected by any chromosomal conditon are born with 46 chromosomes in each cell (22 pairs plus 2 sex chromosomes). After conception, the fertilised egg begins to divide. Each new cell will have a matching set of chromosomes and each cell will therefore, have the same genetic code as the first cell. In Down syndrome the chromosomes in the very early cells do not pair off correctly. One of 3 things can occur: Trisomy 21This is the most common form of Down syndrome, affecting about 94% of people with the syndrome. Here, the extra chromosome aligns itself with the 21st pair of chromosomes (hence Trisomy 21). Although we do know that Trisomy 21 is not hereditary, we do not know what causes this particular cell division. Translocation Down syndromeIn 3-4% of cases Down Syndrome is due to the presence of the long arm, rather than the whole, of an extra chromosome 21. The long arm of the extra chromosome 21 is attached to another chromosome, often 13,14,15,21 or 22. This process is often referred to as a Robertsonian Translocation. A person with Translocation Down syndrome will have cells containing 46 chromosomes, but will have the features associated with Down Syndrome because the exta genetic material from Chromosome 21 gets stuck or `translocated` onto another chromosome. As far as we know, people with translocation are generally affected to a similar extent as with Trisomy 21. The majority of translocations are random events, and parents will have no greater chance of having a baby with Down syndrome than others. 1 in 3 translocations are inherited and a chromosome test for both parents is usually carried out as it is possible for one parent to be a `balanced` carrier of Trisomy 21 (click here to find more information about Translocation Down syndrome). Mosaic Down syndromeAbout 2-3% of people with Down syndrome have Mosaicism. Here, some cells divide incorrectly while others will continue to reproduce normally. This produces a "mosaic" pattern or a mixture of cells, where some have 46 chromosomes and some have 47 (as in Trisomy 21). The proportion of "normal" cells and Trisomy 21 cells will vary greatly from individual to individual and for this reason, people with Mosaicism may be affected by the syndrome to a greater or lesser extent than those with Trisomy 21. Mosaicism is not hereditary. How Do We Determine Which Form of Down Syndrome Our Child Has?When a child is born with Down syndrome, or if Down syndrome is suspected, a chromosomal analysis is carried out to confirm the diagnosis, and to determine which type of Down syndrome the child has. This testing is usually carried out shortly after birth by means of blood tests.
Characteristics of Down syndromeAlthough children with Down syndrome share some of the same characteristics and may look alike, each child is different and will also look like their parents and family. Each person with Down syndrome is a unique individual just as all persons are unique individuals and can vary enormously in appearance, temperament and ability. Approximately 98% of people with Down syndrome have an intellectual disability. Most children will have a moderate intellectual disability. Medical researchers have identified more than 50 characteristics which may be found in people with Down syndrome. Most people with Down syndrome will have only a few of these. The more common characteristics include:
Living with Down SyndromeMost children with Down syndrome are healthy and active and will benefit from a variety of experiences and opportunities like other children in the family.
Articles and InformationTrisomy 21 : The Story of Down Syndrome by Len Leshin Down Syndrome Clearly Explained
LinksContinuing Pregnancy with a diagnosis of Down's Syndrome - a guide for parents by Stuart Mills is available to download from http://www.downs-syndrome.org.uk/information.html - click on >being pregnant and follow the links. ResourcesRothman, Barbara Katz The Tentative Pregnancy : Prenatal Diagnosis In Memory of Ella [VHS] Selikowitz, Mark Down Syndrome : the facts Down Syndrome Association of New South Wales Parent to Parent [Video] Schermerhorn, Will Down Syndrome: The First 18 Months [Video and DVD] Stray-Gundersen Babies with Down Syndrome : A New Parent's Guide Soper, Kathryn Lynard and Martha Sears Gifts: Mothers Reflect on How Children With Down Syndrome Enrich Their Lives Zuckoff, Mitchell Choosing Naia - A Family's Journey |
I was just about to leave, to watch my four year old sing at pre-school for Mother`s Day when the phone rang. I heard the words I had feared, "The tests are positive, your baby has Down syndrome". I put the phone down and screamed and cried. I was terrified about what this really meant. Never before have I felt such intense pain and fear. 
