For the month of May, Defying Shadows will be joining the Mental Health Awareness Month by sharing a post daily on a different type of Mental Illness or “Shadow” that people commonly struggle with. Join us in creating awareness and working to end the stigma that goes with these topics! Today we have Alex Newton sharing on Down Syndrome. ~ Defying Shadows Team
The human genome is composed of 23 pairs of chromosomes. In certain cases, such a down syndrome, there are changes to this genetic material. Down Syndrome is a full or partial extra copy of the chromosome # 21.
According to the National Down Syndrome Society (2012), down syndrome is usually diagnosed at birth through specific physical attributes: “low muscle tone, a single deep crease across the palm of the hand, a slightly flattened facial profile and an upward slant to the eyes.” For further confirmation of a diagnosis, a test can be done to examine the chromosomes – this test is called karyotyping.
Now that you’ve got the jist of what down syndrome is, I’ll expand on the different types. There are three different types of down syndrome: Trisomy 21 (nondisjunction), Mosaicism, and Translocation.
Trisomy 21 (nondisjunction) is the most common type of down syndrome, accounting for approximately 95% of cases (according to the NDSS.) This type of down syndrome is simply when there is an extra #21 chromosome.
Mosaicism is the third most common type of down syndrome, accounting for approximately 1% of cases. This type of down syndrome occurs when there is a mixture two types of cells, causing some to have 46 chromosomes while others contain 47 chromosomes.
The third type of down syndrome, also known as translocation, is the second most common – accounting for approximately 4% of cases. In this type of down syndrome, a part of chromosome #21 breaks off and attaches itself to another chromosome – which is commonly chromosome # 14 (according to the NDSS.)
Here are some facts, myths and truths about down syndrome:
- Down syndrome is a rare disorder (MYTH)
- Most people with Down syndrome are institutionalized (MYTH) – The NDSS states: “Today people with Down syndrome live at home with their families and are active participants in the educational, vocational, social, and recreational activities of the community. They are integrated into the regular education system and take part in sports, camping, music, art programs and all the other activities of their communities […].”
- “Down syndrome is the most commonly occurring chromosomal condition. One in every 691 babies in the United States is born with Down syndrome” (NDSS, 2012)
- Life expectancy for people with Down syndrome has increased dramatically in recent decades – from 25 in 1983 to 60 today (NDSS, 2012)
Although I could write an essay on the topic of down syndrome and the science behind it – I am a scientist/nurse/teacher after all – the most important message I want you to take away today is that those with down syndrome, or any other illness (whether it be developmental, intellectual, mental health, etc.), are normal people and shouldn’t be looked at any different. They are just as beautiful and extraordinary as you and I and everyone else.
For more information, or if you’d like to check out the webpage I found this information, go to: http://www.ndss.org/
Alex Newton is a nursing student and mental health advocate. She grew up in a small town and plans on moving to London, England one day and open up her own health practice. She has a cat named Maya who she adopted whilst going through some difficulties. She’s a daughter, sister, and warrior who enjoys a nice cuppa tea.