This month is Down Syndrome Awareness month. I consider myself an expert on trisomy 21- it is my life, my child, my world by diagnosis. But Sara is so much more than just an extra chromosome, and it is hard to distinguish characteristics of Down Syndrome from what simply makes Sara who she is.
Down Syndrome was named after the English medical doctor, John Langdon Down, who first published an accurate description of a person with Down Syndrome. In 1959, the French physician Jerome Lejeune identified Down syndrome as a chromosomal condition. Instead of the usual 46 chromosomes present in each cell, Lejeune observed 47 in the cells of individuals with Down Syndrome. It was later determined that an extra partial or whole copy of chromosome 21 results in the characteristics of Down Syndrome. (taken from NDSS)
That's the medical terminology, but what about Down Syndrome and what it means to a mom? It means a lot of different feelings and experiences- some good, some ugly, some frustrating and some rewarding. A lot like parenting a "normal" kid- but in some ways intensified. Sara's accomplishments are celebrated in a big way, but is tempered with frustration when she cannot tie her own shoes. She knows enough to know that she is not "keeping up" with what other kids her age are doing, but confident enough to feel validated in doing the things she does well. It's like living extremes sometimes, and forgetting every once in a while that the extra chromosome is lurking about because sometimes things just seems so damn "normal".
Would I change her if I could? That's a hot topic issue right now with all the new technology and discovery in gene manipulation. The answer to that is a mixed bag for me. If I could make the medical concerns go away for Sara- yes, I would. Not having to worry about her heart, diabetes, leukemia, or early onset Alzheimer's? Yes, I would manipulate those genes in any way possible to keep her medically safe, but to change her to "normal" for normal's sake? My honest answer to that is "no". I used to wonder about things she did and ask myself if it was a Down Syndrome thing or just Sara being Sara. Now I really think the two are so intertwined and connected that it is a bit of both, and to change that chromosome would be to take away the essence that makes Sara who she is. And to me she is just Sara, perfectly, wholly, beautifully, and phenomenally- 47 chromosomes and all.
Down Syndrome was named after the English medical doctor, John Langdon Down, who first published an accurate description of a person with Down Syndrome. In 1959, the French physician Jerome Lejeune identified Down syndrome as a chromosomal condition. Instead of the usual 46 chromosomes present in each cell, Lejeune observed 47 in the cells of individuals with Down Syndrome. It was later determined that an extra partial or whole copy of chromosome 21 results in the characteristics of Down Syndrome. (taken from NDSS)
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| typical cell division |
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| Trisomy 21 cell division |
That's the medical terminology, but what about Down Syndrome and what it means to a mom? It means a lot of different feelings and experiences- some good, some ugly, some frustrating and some rewarding. A lot like parenting a "normal" kid- but in some ways intensified. Sara's accomplishments are celebrated in a big way, but is tempered with frustration when she cannot tie her own shoes. She knows enough to know that she is not "keeping up" with what other kids her age are doing, but confident enough to feel validated in doing the things she does well. It's like living extremes sometimes, and forgetting every once in a while that the extra chromosome is lurking about because sometimes things just seems so damn "normal".
Would I change her if I could? That's a hot topic issue right now with all the new technology and discovery in gene manipulation. The answer to that is a mixed bag for me. If I could make the medical concerns go away for Sara- yes, I would. Not having to worry about her heart, diabetes, leukemia, or early onset Alzheimer's? Yes, I would manipulate those genes in any way possible to keep her medically safe, but to change her to "normal" for normal's sake? My honest answer to that is "no". I used to wonder about things she did and ask myself if it was a Down Syndrome thing or just Sara being Sara. Now I really think the two are so intertwined and connected that it is a bit of both, and to change that chromosome would be to take away the essence that makes Sara who she is. And to me she is just Sara, perfectly, wholly, beautifully, and phenomenally- 47 chromosomes and all.
My mother's best friend's youngest son was born with Down's Syndrome. That was back when they didn't believe in education on any level. We were not able to understand what he said most of the time BUT when it came to baseball his speech was perfectly clear and he knew EVERY player on EVERY team and ALL their stats. He would watch TV and study sports magazines all the time. It was AMAZING. He was the most loving boy/man I ever knew....and he would go " AWWW-MA" to his mom, just out of the blue, and hug and kiss her. He lived well into his 50's.
ReplyDeleteGod bless your sweet Sara. Enjoy every moment with her! xo Diana
This is a fascinating and heartwarming post! Your love for Sara is without bounds. I absolutely love this pictures, it sums it all up! :)
ReplyDeleteXO,
Jane
I always enjoy posts about your wonderful daughter Sara! She always seems so full of life and a joy to be around and the two of you obviously have a very close relationship.
ReplyDeleteLove you two. <3
ReplyDeleteI love reading your Sara posts. She's a special daughter and you are a special mom. Thanks for sharing and setting such a great example for others.
ReplyDeleteI too am the parent of a son with Down Syndrome. It was a frightening thing to learn, but it has been a beautiful ride. He is most often easier to parent than some of my "normal" children. Our family would not be whole without the person he is --- even that extra chromosome! Sarah is beautiful and thanks for sharing your insightful words.
ReplyDeleteWhat a beautiful photo
ReplyDeleteof two beautiful souls, and
I love your sweet reflections
on your girl....Especially the
part where you talk about the
DS and her personality being
entwined. Lovely.
xo Suzanne
I have a low functioning son. He does have DS but his capabilities are somewhat similar. It's hard with him because he doesn't have traits that are noticeable and people expect more out of him. He is now 26, lives on his own with a lot of help from us. They are the most loving kids aren't they. Mine suffers from bi-polar so he's not always happy. His birth mother was also very delayed. Your Sarah is just precious.
ReplyDeleteWhat a beautiful post--thank you so much for sharing it and the gorgeous photos of the two of you!
ReplyDeleteHugs,
Cheryl
Your daughter is beautiful. I love the picture of you and she and your pup! Thank you so much for this post. I had no idea of the further health issues that children with D.S. face, I assume, as they grow older. I have read your "Sara" posts before and they warm my heart and make me smile. I have a grandson who is not D.S. but has a very complicated diagnosis including autism, and mild mental retardation. At 10 there are many things that he is unable to accomplish by himself. Such as getting dressed, tying shoes, etc. We visited in July and it is apparent that his parents are still struggling with his diagnosis. His little brother, on the other hand, is like a little mother hen, always looking after his brother. Two sweet little boys. We can all be inspired by your happy daughter with her brilliant smile and you, such an obviously loving wonderful Mom!
ReplyDeleteI wouldn't normally respond to another person's comment but in this case I felt I had to. I'm not sure what the acceptable alternative to "mental retardation" is in the States - obviously Tricia would. In Canada we talk about people living with special needs or living with developmental delays - it would be totally unacceptable if anyone talked about "mental retardation" or being "retarded". I'm always shocked when I hear these terms still routinely used in the US.
DeleteTricia and Sara have produced a beautiful picture show about the campaign to end the use of the R word - you can see it under "My Story"
I apologise if I seem a little rude or preachy, but it's something that I feel very strongly about.
Caroline, Calgary
Caroline, The term is still used here, more as a medical diagnosis/term, but still acceptable in that context. Sometimes it seems a bit like the "you say tomato, I say tomato" thing, but I really feel that it is how it is used or delivered that means the difference between a medical diagnosis and an insult. To retard means to slow- and DS definitely has that characteristic.
DeleteOne time I was filling out a medical form back in 1994 when I was pregnant with my son David. The form had the term "mongoloid" on it. I about fell out of my chair! I went up to the reception desk and gave them an earful about the hurtfulness of the term and lack of understanding on their part. I'm always so interested to see how other countries terminology differs!
Sara is s beautiful and I love that picture of you two together!
ReplyDelete