Trisomy 18
Edwards Syndrome

 Warning - This article contains disturbing images. Enter at own risk.

I was doing some research on what happens when a person has an extra 18th chromosome, and i saw that it was a disorder called Edwards Syndrome ( See figure 1), named after John Hilton Edwards, who first described the syndrome in 1960.

-Figure one

I did some more research and found many more websites that I used as resources and that are listed on the bottom, but the one I found that had the most information was this one

 It is the second most common autosomal trisomy, after Down syndrome

Edwards syndrome  is a condition which is caused by an error in cell division, known as meiotic disjunction. The syndrome occurs in about every  1 out of every 6000 births.

Unlike Down syndrome, which is also caused by a chromosomal defect, the developmental issues caused by trisomy 18 are associated with medical complications that are more potentially life threating in the early years of a child’s life. 80% of the affected babies are female, and a majority of fetuses with it die before birth. It has a very low rate of survival since the syndrome’s symptoms are heart abnormalities, kidney malformations and other internal organ disorders.

There are three types of Trisomy 18:

1.               Full Trisomy 18 – The most common type that occurs in 95% of cases. With full Trisomy, the extra chromosome occurs in every cell in the baby’s body. This type is not hereditary, which means that it cannot be inherited from the baby’s biological parents. It cannot be caused by anything the parents did before or during pregnancy.

2.               Partial Trisomy 18 – This type is very rare. It occurs when only part of an extra chromosome Is present. Some partial trisomy 18 syndromes may be caused by hereditary factors. Very rarely, a piece of chromosome 18 becomes attached to another chromosome before or after conception.

3.                Mosaic Trisomy 18 – Mosaic trisomy is also very rare. It occurs when the extra chromosome some of the cells in the body. Like full Trisomy 18, Mosaic Trisomy is also not inherited and it is a random occurrence which takes place during cell division

This is a very deadly syndrome, since only 5-10% of babies with it live past their first year. And if they do, they have overlapping fingers, a small and abnormally shaped head, a small jaw and mouth, and they have severe intellectual disability as well ( See Figures 2 and 3). The babies also have many more characteristics, such as:

·         Heart defects

·         Kidney problems

·         Part of the intestinal tract is outside the stomach

·         The esophagus doesn’t connect to the stomach

·         Excess amniotic fluid

·         Pocket of fluid on the brain

·         Rocker bottom feet

·         Delayed growth

·         Low set ears

·         Umbilical or inguinal hernia

-Figure two

-Figure three

However, in the light of the information that most babies don't survive birth, or even their first year, there is a man that turned 21 last year in september. His name is Donnie Heaton, and he has Trisomy 18. He is the oldest known patient with the syndrome, and he has had massive disabilities his entire life. He weighs only 55 pounds, which is approximately 25 kilograms. He goes to a special needs school, and although he doesn't walk or talk, he expresses emotions and loves to ride the bus with his friends. His mother, Karen, did not have an Amniocentesis since she didn't believe in having an abortion, and she was expecting Donnie to be a normal kid. She had this to say about him :

“I was 42 when I became pregnant with Donnie. I didn’t have amniocentesis, because I don’t believe in abortion and I didn’t think there would be anything wrong. I thought he’d be a healthy bouncing baby boy, until he was born.

They called him a vegetable at birth. Donnie’s godmother is an RN and she was in the delivery room. She knew there was something wrong. The first doctor to see him knew what was wrong. He said, ‘take him home and love him and he’ll die in your arms.’ They said he’d be blind and hearing impaired, and he’s not. And he has full blown trisomy 18, he’s not a mosaic.

Donnie’s low functioning. He’s had pneumonia three times this year. He lived through a C. difficile infection. He has fevers, heart and bowel problems, and urinary tract infections, and he breaks his fragile bones. He doesn’t walk or talk. He weighs 55 pounds, and he won’t get any bigger. But he keeps on going.

He’s definitely not a vegetable. He’s a little person. He reacts appropriately. I use a suction machine and when I put the part near him, he opens his mouth. He knows. He recognizes people. His face lights up when he sees people he knows. I can’t quite comprehend that he’s that rare, but according to the geneticist, Donnie is believed to be the oldest person in the world with trisomy 18.

He loves his special needs school, and I’m heartsick because he’s aging out of everything. He loves music, and being on the school bus with other kids. I’ll have to stop calling him a kid!

He vocalizes. I know when he’s wet his diaper. He makes happy noises. We like watching game shows on TV. He likes the different colored lights, the sound of the clapping. He picks up on the excitement. He lies in a big lazy boy chair, and I sit on the couch right beside him. We like Wheel of Fortune, The Price Is Right, and Let’s Make a Deal.

There’s a light inside those eyes, I can see it. Donnie amazes me.”

Donnie isn't and never was a vegetable, but he's different. Trisomy 18 is the second most appearing syndrome in all cases and not enough people know about it. It's rarely in the news and nobody is even caring about the mothers and fathers that go through a tough time with their children, before and after birth. 

Other websites to check out if you want to learn more, and the ones i used for research

•     http://www.ncbi.nlm.nih.gov/gtr/conditions/C0152096/
•     http://ghr.nlm.nih.gov/condition/trisomy-18
•     http://blogs.plos.org/dnascience/2013/09/05/a-very-special-birthday-for-a-young-man-with-trisomy-18/