Down Syndrome

Author: Cuddles

Down Syndrome This is the most common chromosomal abnormality and affects about 1 in 650 live-born infants. The risk of having a baby with Down syndrome increases with the mother’s age. At 20, a woman has about a one in 2,000 chance of having an affected child. At the age of 30 the likelihood has risen to about one in 900, and by 40 to about one in 100. After this it rises still more steeply, so that a 43year-old mother has about a one-in-50 chance and a 47-year-old mother, about a one-in-20 chance. By age 50, the chance is about one in 10. There is also evidence that the risk of having a baby with Down syndrome increases if the father is older than 55.

The most significant problem faced by children with Down syndrome is that they are mentally disabled, although the degree of disability varies. Some can, with help and stimulation, achieve IQs of about 80, considered to be the low end of the normal spectrum; many have IQs of less than 50 and are severely mentally disabled. Children with Down syndrome are also recognized by their flattened profile, slanted eyes with an extra fold and stubby fingers. Most grow slowly and are small for their age. Many have additional disabilities-heart defects, eye abnormalities, hearing problems and a tendency to respiratory infections are common. Babies with Down syndrome are characteristically “floppy” at birth and many have problems with breastfeeding because they may lack the strength to feed properly as well as the reflex to suck.

Most women expect to have a normal, healthy baby when they go into labor, although a very small number may know that their baby is likely to be born with disabilities. When things go wrong and a woman has to face this at the time of the birth, the shock and disbelief can be devastating.

“They told us after the birth that she wasn’t normal. I refused to listen. I said, ‘If you’re worried about her slanting eyes, my other children had that. They’re my husband’s eyes.’ Then they showed me how she didn’t have normal reflexes and how floppy she was and one or two other things and I had to believe it was true. My husband was also told, and he didn’t know what to say; we couldn’t look at one another. My first feeling for the baby was absolute hate: I hated her for not being normal. I seriously thought of giving her up for adoption. That feeling lasted a day or two.”

It may take the parents days, weeks and sometimes even months to accept what has happened and to acknowledge that a baby born with some form of disability needs just as much love and care as a normal baby.

“I wouldn’t talk to the other mothers, or the staff, wouldn’t see my family and wouldn’t see the baby. Then I thought, she can’t be that bad, I’ll just go look at her. She was asleep. The nurses had been feeding her. I just looked and looked at her and she was so tiny, so beautiful, like my other babies had been. I felt a rush of love and when my husband came I was feeding her and crying. I told him, ‘We have to keep her, she needs us more than anyone.’ He just smiled and smiled and said, ‘That’s what I’ve been waiting to hear. It doesn’t matter, we’ll love her anyway.’ I won’t say things have been easy, but I don’t regret having her now, although of course sometimes I wish she had been normal.”

Down syndrome is the most common chromosomal abnormality involving an extra chromosome - chromosome 21, in this case. There are others, such as Edward’s syndrome, or Trisomy 18, involving an extra eighteenth chromosome. Edward’s syndrome is the most common Trisomy after Down syndrome, and occurs in about one in 5,000 live births. It leads to multiple congenital disabilities and most children die within a few days or weeks after birth, despite medical intervention. Edward’s syndrome babies are usually small, with tiny features and pixie like ears, and have internal heart and kidney abnormalities. As with other chromosomal abnormalities of this kind, there is some association with maternal age.


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