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What is Trisomy 13 ?
Trisomy 13 is a chromosomal abnormality. It is also known as Patau Syndrome. It is one of many chromosomal abnormalities which have been identified. One which everyone knows of is Downs Syndrome, which is similar, but less serious.
The abnormalities in these syndromes are caused by an extra chromosome being transferred to the fetus during initial development. Normally, 23 chromosomes from the father, and 23 from the mother, combine to 'create' the child. In these cases an extra copy of one of the chromosomes (in Anastasia's case, the 13th) is added, giving a total of 47, instead of 46. This causes abnormal development in the womb.
Trisomy 13 babies usually don't have a long life, 70% pass away within 7 months of birth. Many are still-born, or miscarry. The children who last past a year usually only live for another year or two. Only one recorded case has lived past childhood.
Common abnormalities include badly formed, or damaged brain structure, heart defects, cleft lip and palette, unformed, or badly formed, eyes and ears, Simian crease (frowning brow), twisted limbs, etc.
Anastasia had no formed eyes, cleft lip and palette, and slightly deformed ankle and wrist joints. Her internals were surprisingly fine, except for her heart, which was large and weak.
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Is it hereditary ?
Only in about 1 in 13000 cases is it found that one of the parents is a carrier. This is usually Partial Trisomy (only part of the 13th chromosome has been added). This does not, however, mean that all of the children will be Trisomy children. The disorder can skip generations.
Most of the time, the occurrence is simply a one off, and can not be attributed to any one factor. It is simply a freak occurrence.
Genetic testing can be done to discover if a parent is a carrier, and Kerry and I are currently being referred to specialists.
What can be done ?
Not much, I’m afraid. The disorder is not curable. However, do not feel that this means that the child’s life is worthless. Quite the contrary. Anastasia was the best thing to ever happen to Kerry and I, she touched so many people’s lives. She was never in pain, never suffering. When she passed away, she had just been fed, and then just drifted off. Our time spent with her was wonderful, and it had meaning. You just have to look at the messages left in the guest book to show how big an effect she had on people.
The best that can be done is to give children with Trisomy 13 as much love as you possibly can. You will get so much back, I guarantee it.
If the condition is genetic, further pregnancies will have to be tested frequently, to monitor the development of the child. This is of great importance to Kerry and I, as we intend to have more children in the future.
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