ABOUT Down syndrome

Down syndrome involves a person having an extra copy of a chromosome. The Center for Disease Control and Prevention states that around 700 to 800 babies in the United States, are born with Down syndrome, making it rather common. The risk of having a child with this condition increases as the mother’s age increases. This condition is usually due to the egg cells but it can also be in sperm cells in rare cases.

While Down syndrome is given an overall name, it can be separated out into two subcategories: Mosaicism and Trisomy 21. Trisomy 21 is when someone has three extra copies of a chromosome in their cells. This type of Down syndrome is the most common and makes up around 95% of cases, based on information from the National Down Syndrome Society. Mosaicism is a little rarer. This type is diagnosed in the person when it shows that some cells may contain the normal 46 while others may show 47. The ones showing 47 are the ones that contain the extra chromosome. This particular type of Down syndrome is different in that it may not specifically show up and does not seem that the person with this type shows the usual characteristics of Down.

Translocation may also be a factor but this type only shows up in around 4% of cases. The NDSS states, “The presence of an extra full or partial chromosome 21 causes the characteristics of Down syndrome.”

Scientifically, the causes of this particular syndrome have not been found.

Down syndrome can cause problems in development specifically of organs. Some cases have had difficulty in development of hearts or kidneys. Others have had more structural issues with their spinal cords and the strength of their bones. People with Down syndrome are also more highly susceptible to develop medical diseases such as: reflux, celiac disease, hypothyroidism, and some even deal with forms of cancer such as Leukemia.

Down syndrome also can affect the speech and language development of those with this condition. The NDSS also shows that behavioral issues can also develop with this condition such as: OCD, tantrums, behavioral problems, and may even develop autistic characteristics socially.

The United States National Library of Medicine states also that those diagnosed with the condition of Down may also have an increased risk of being diagnosed with Alzheimer’s. While people without this condition could get Alzheimer’s too, those who also have Down can start seeing signs of Alzheimer’s by the time they are 50 to 60 years old.

Person-First Language states that Down syndrome is not to define people with this condition but rather it be part of them.  For example, the NDSS states for Person-First Language that the preferred use of Down over Down’s be used for those with the condition. Also since this is a condition and not an illness or disease, people should not refer to Down as an affliction or something people “suffer from.” 

References: http://www.ndss.org/about-down-syndrome/down-syndrome/    https://ghr.nlm.nih.gov/condition/down-syndrome

KEVIN

What does Down Syndrome mean to you?

Kevin said Down Syndrome means that he is just like anybody else.

What do you want me to know about you?

Kevin said he’s strong, and he likes UGA football and spending time with his girlfriend, Amy Mathis. In his free time, he likes to go to the gym.

What is the best way to communicate with you?

Talk to him just like you would to anybody else, Kevin said. He appreciates just having a normal conversation.

How do you want the community to respond to your disability?

Kevin said he’d just like everyone in the community to be nice and not view him any differently because of his disability.

AMY

What does Down Syndrome mean to you?

People treat her differently sometimes, Amy said. Sometimes she tries to be friendly to people in the community, but they are not friendly back in the same way. But other times, people respond well and she is able make great friends. Down Syndrome has caused some health issues in Amy’s life, she said, leading to her having a few surgeries and a pacemaker. She looks a little different, she said, and sometimes people stare at her, which she finds rude.

What do you want me to know about you?

Amy is very happy, she said. She likes dancing as well as arts and crafts, she said. She loves to get her hair and her nails done at the salon. She also loves getting massages, eating out, and going shopping. She loves her boyfriend, Kevin, and they have fun going on dates and spending time together. She would love to marry Kevin one day and get a little apartment on her own. She also loves visiting Georgia College and spending time with her best buddy. Overall, she just loves talking to people and living life to the fullest.

What is the best way to communicate with you?

Down Syndrome causes Amy to have a slight speech impediment, she said, so it is important to listen closely during a conversation with her. But when talking to her, just speak to her like you would to anybody else.

How do you want the community to respond to your disability?

Amy said she would like people to be friendly, nice, sweet, and lovable. She would like other people to not treat her any differently than they would someone else. She appreciates being offered help when she needs it, she said. But she also likes it when people don’t assume that she needs help, because often she knows exactly what she is doing and can do it all on her own.