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rick santorum
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March Is Trisomy Awareness Month
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March Is Trisomy Awareness Month

The real winner of the 2012 United States Republican presidential primary? My vote went to Bella Santorum.

Bella is the daughter of candidate and former Pennsylvania Senator Rick Santorum. She was born with a genetic disorder called trisomy, which is earmarked by mild to severe mental and physical developmental retardation.

Trisomy kills the majority of its victims before they're even born, and the majority of its survivors before they reach adolescence. Thanks to her recovering from a respiratory virus, Bella bought long-overdue public attention to the condition, and during Trisomy Awareness Month, which takes place every March.

What causes trisomy? It's the result of what can happen when our chromosomal wiring gets crossed. Normally, human beings have 23 pairs of chromosomes, one from each parent. But if a third chromosome turns up as a fertilized human egg begins dividing into cells to form a baby, trisomy occurs – either full (affecting all the cells), mosaic (affecting some cells), or partial (when the third chromosome is a fragment).

The most well-known form of trisomy is the one caused by having an extra 21st chromosome: Trisomy 21 is another name for Down's Syndrome, which is what the youngest son of ex-U.S. governor Sarah Palin has. Bella Santorum has Trisomy 18 (Edwards Syndrome), which makes her particularly vulnerable to respiratory and cardiac distress, and such limited development that learning speech is unlikely.

Trisomy 13 (Patau Syndrome) can produce deafness, plus eye, spinal and kidney defects. Babies with Trisomy 5 can have such low muscle tone they can't even suckle. While full Trisomy 16 is regarded as the most common cause of first trimester miscarriages, people with mosaic Trisomy 16 have growth and heart problems, but can enjoy normal mental development. And those are only five kinds – keep in mind that trisomy can come in 18 other "flavors."

The condition is usually found during amniocentesis -- a genetic screening of the fluid surrounding a fetus. The severity of most trisomies cause doctors to describe the diagnosis as "not being compatible with life," with the suggestion that the pregnancy be terminated. Most parents make that painful decision -- ninety per cent of Down's Syndrome diagnoses end that way -- but go on to have other successful pregnancies.

Other parents decide to forge ahead. Most end up losing their children within the first few hours, days, months, or years. But they do the work of being parents of "special needs" children -- and thanks to the Internet age, they no longer have to do so in a social or educational vacuum. They maintain Web sites, form support groups, and proudly post videos of their children's progress.

Because trisomy is both so rare and usually so fatal, treatment is very expensive, and forming an organized medical research effort has been very difficult. So take out some time to learn more about Down's Syndrome and other forms of trisomy, and cast a vote for Bella!


Street Talk

life is fragile... and important... thanks for sharing that's educational and well written on a difficult topic. One of my brothers is mentally diabled. I love him dearly and he functions far above his ability level in many situations.

Reply
  about 6 years ago
Barbara9  

thanks for sharing. very informative

Reply
  about 8 years ago

I believe people that have to bare these deceases must be very brave...

Reply
  about 8 years ago

Sound like a horrible disease. Thanks for sharing this.

Reply
  about 8 years ago

Ollye, thanks for the gift of awareness...

Reply
  about 8 years ago

Nineteen likes in less than two days? That's VERY touching -- Thank you!

Reply
  about 8 years ago

I didn't know about this before. Thanks for the background about trisomy.

Reply
  about 8 years ago

I have a friend who has adopted 3 kids with downs syndrome so this article is really close to heart. they are amazing people. thanks.

Reply
  about 8 years ago

You ought to go and interview that friend -- it sounds like a GREAT idea for a Street Article!

Reply
  about 8 years ago
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