After two months of trying to understand the many things doctors have told us about how we procreated a son with Down Syndrome (DS), we finally met with a Geneticist. During our meeting, I felt like I was in my summer school biology class all over again. 12 weeks of biology courses was squeezed into just 6 weeks. I took a crash course in which I ate, slept and breathed biology. Jorge and I learned and now have a better understanding of the different types of Down Syndromes. Trisonomy 21, Translocation and Mosaicism. When Aiden was born we were told by the hospital that DS was not genetic but then when released from the hospital and seen by an outside Pediatrician, we were told it is genetic. Based on the discharge papers the only information we had was that our son was suspected to have Trisonomy 21, which to this day we have yet to receive confirmation in black and white from the blood test that was done at the time of his birth. The Geneticist himself was puzzled why he has not received the report and is currently working on obtaining it from the hospital. I will only explain Trisomy 21 as it was the only one we discussed in depth. If you're interested in the other types you may look at the website provided below.
Although I am no scientist or a doctor, I feel the need to explain the reason our son was born with DS. Some people have this misconception that the reason might be because of what his father or I might have done to our bodies which may have caused my egg or his sperm to be abnormal. Aiden was not born with DS because I used to be pill popper (not the addictive type) I say pill popper because I was known for always taking pills to relieve my headaches. My ex boyfriend used to joke around and remind me to make sure I brought my candy with me. Prior to my pregnancy, I used to (knocks on wood) suffer from migraines and sinus headaches. In school or in class if anyone needed aspirin or sinus meds, they knew to look for me. Besides coffee, taking my meds was the only way I survived 7 years of college. Our son was also not born with DS because his father used to smoke Marijuana.
Normally in reproduction, the egg cell of the mother and the sperm cell of the father start out with 46 chromosomes. The egg and sperm cells undergo cell division where the 46 chromosomes are divided in half and the egg and the sperm cells end up with 23 chromosomes each. When a sperm with 23 chromosomes fertilizes an egg with 23 chromosomes, the baby ends up with a complete set of 46 chromosomes, half from the father and half from the mother.
In Aiden's case, his cells did not divide properly. When the chromosomes were being divided, there was an error where either the egg or sperm cell kept both copies of the #21 chromosome instead of just one copy. When the egg or sperm was fertilized, Aiden ended up with three copies of the #21 chromosome hence the name "Trisomy 21" or Down Syndrome. Trisomy 21 seems to be the only type of DS that is NOT inherited. Its all because of how the egg and sperm were divided at the time of conception. Translocation is the type of DS that is genetic. Translocation is when the mother or father carries the trait. Therefore if we ever decide to conceive more children, we have only a 1 % chance of having another child with DS.
I hope this is helpful in understanding the reason for DS. If anyone finds information that seems inaccurate please feel free to correct me. I am new at this and learning everyday. In case anyone is wondering, Aiden was examined by the Geneticist and declared to be in great health. He will however need to see the doctor every 6 months to keep an eye out for any health issues that may occur in the future.
Have a great weekend all!! <3 <3 <3
http://www.chkd.org/HealthLibrary/content.aspx?pageid=P02121
http://www.ndss.org/index.php?option=com_content&view=article&id=60&Itemid=77
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