Trisomy - 18 or Edward's Syndrome

Com 112-116

Topic: Trisomy-18

General Purpose: To inform

Pattern of Organization: Topical

Specific Purpose: After listening to my speech, the audience will have a better understanding of what Trisomy-18 is.

Central Thesis: Trisomy - 18 is a chromosomal disorder that can be devastating to many new or expecting parents, but can sometimes end in miracles.

Introduction

        You have probably heard of Down syndrome, but did you know that there are other types of chromosomal disjunctions besides just that one? Well, there are; collectively they are called Trisomies.  The most devastating of the Trisomies is Trisomy-18, or otherwise called Edward’s Syndrome. I, as well as most of you, am lucky enough to personally know a girl who was born with this very defect, and as far as anyone knows she has the ‘best’ case of it around. However, just because she has a mild case doesn’t mean everyone is that blessed.  People are working to find cures and help for individuals living with trisomy-18, but sometimes it just isn’t enough.

Body

Trisomy 18 , like down syndrome is caused by a chromosomal disfunction. This occurs when…

1. Trisomy - 18 is a chromosomal disjunction that can cause terrible and often times fatal birth defects. (Trisomy 18 Foundation.) 

1. Trisomy - 18 is the result of an error during cell reproduction causing a third copy of the 18th chromosome. (Visual: Video explaining Trisomies)

1. Parents each contribute 23 chromosomes, making 46 total; a pair of each.
2. Sometimes these can be copied wrong and cause a third or extra chromosome of a particular pair.
3. The phrase trisomy - 18 is self explanatory.
4. Any chromosomal pair can have an extra; Down's Syndrome (Trisomy - 21)

1. There are three main types of trisomies: full, mosaic, and partial.

1. Full trisomy occurs when every cell has a third chromosome.
2. Mosaic trisomy occurs when only some cells have a third chromosome.
3. Partial Trisomy  occurs when there is only a piece of half of a third chromosome.

1. Trisomy - 18 is “incompatible with life”(Atkins) and will cause many birth defects.

1. 90% of babies diagnosed with trisomy - 18 don’t live to see their 1st birthday. (Trisomy-18 Foundation)
2. Birth defects can include heart defects, kidney problems, severe developmental delays, clenched hands, low-set ears, delayed growth, and a small jaw with a strawberry shaped head.
3. Trisomy - 18 is much like Down’s Syndrome, but worse.

Having a child with Trisomy - 18 can be devastating, but doesn't necessarily mean the worst.

1.  In fact, most of you know someone living with this very disjunction, Ashley Fitch.

1. Ashley was born with mosaic Trisomy - 18. (Visual: Slides with Pictures of Ashley) (Interview with Jill Fitch)

1. Ashley was born in January of 1999 in Oklahoma, but she was quickly air-vaced to Lackland Air force Base in San Antonio, Texas where she stayed in the NICU for seven months.
2. It soon discovered that she had mosaic trisomy - 18 and the doctor told her mom that she should start planning her funeral.
3. “That was by far the worst day of our (her and her husband) lives.” -Jill Fitch

1. Today, she is living a seemingly normal life with little side effects from the disjunction.

1. Today, Ashley is living with the best known case of Trisomy - 18 in the world even though it is only mosaic.
2. As a child, she suffered from frequent seizures and hearing problems.
3. After being partially deaf in one ear, she had a surgery that returned her hearing to normal.
4. Today, she is living life as a normal teenager; a miracle for someone with Trisomy - 18

1. Even though, Ashley is a miracle, there are many other cases that don't end as well.(Degregory)  (Visual: Pictures of other trisomies)

1. Most babies don't live to turn 1.
2. If they make is past 1, 6 is their average lifespan.

Sadly, very little research is being done in this field.

1. Even though chromosomal disjunctions are so devastating, you hardly think about them unless they affect you personally.

1. There are multiple organizations setup to spread awareness for the T- 18 and chromosomal disjunctions in general.

1. The national trisomy - 18 foundation strives to raise awareness.
2. They have even adopted a national awareness day, March 18th.
3. “Trisomy - 18 is one of the most common disorders that you’ve never heard of”

1. Sadly, very little research is being done in this field. (Trisomy- 18 Foundation)

1. 1 in every 2,500 pregnancies are affected by Trisomy - 18
2. Trisomies are the leading cause of miscarriages and stillbirths.
3. Yet, no one seems to care until it affects them personally.

Conclusion

        Just because Trisomy - 18 is a chromosomal disorder that can be devastating to many new or expecting parents it can sometimes end in miracles just like Ashley, and if more research were to be done maybe more trisomy babies would be able to enjoy life like Ashley.