Down Syndrome
The most common chromosomal disease
About the disease
Down Syndrome is a genetic condition that causes delays in physical and intellectual development. A person who has this disease has 47 chromosomes instead of the normal amount of 46. The discovery of this disease was accomplished by Dr. John Langdon Down in the year 1959. Also, there are different types of Down Syndrome that you can have such as, Standard Trisomy 21, Translocation, and Mosaicism. The most common type of this disorder is Standard Trisomy 21. Which is when the extra 21 chromosome comes from either the egg or the sperm.
Is there a cure?
Sadly no there is no cure but, there are ways to tell if the baby is going to have Down Syndrome. For example, ultrasounds are used to look at the babies physical features and try and figure out by seeing if there are any symptoms. Also, a method that is used is called a maternal serum screening. This is when a mother's blood is taken and studied to look for signs of Down Syndrome. Another way, is by looking at the genetic material through the mother's blood. This technique is normally more accurate and from the other tests that are done. But also even though tests can be used to figure out if a baby has Down Syndrome, which is helpful, it doesn't just mean that the disease can be prevented.
Symptoms in Physical Form
Flattened Nasal Bridge
When someone has Down Syndrome their nose, at the bridge, tends to be compressed. Also the nose tends to be on the small side. Another symptom is that their eyes tend to be almond shaped and slanted upward.
Hands
A person with Down Syndrome has small hands with short fingers. Another symptom is that they on their hands they have one line that runs across the palm.
Joints and More
A person with Down Syndrome tends to have very flexible joints, which is not commonly seen in people without this disease. Also, they have short necks and small ears that normally fold over at the top.
Myths vs Truths
- Myth: Down Syndrome is inherited
- Truth: This disease happens to be non inherited
- Myth: Down Syndrome is a rare, uncommon disease
- Truth: This disease is actually very common, 3, 357 babies are born with Down Syndrome each year.
- Myth: Down Syndrome is caused by older people having babies
- Truth: It actually mostly is when a mother gives birth under the age of 35
Organizations
There are many organizations for Down Syndrome, the ones listed are just a few. One organization is Down Syndrome Association of Pittsburgh, this one helps support families who have a child or relative with Down Syndrome. Another organization that helps families is National Association For Down Syndrome, they help people achieve their goals and grow up to be people who work just like "normal" people. The last organization I'm going to mention is National Down Syndrome Society, this one helps support people when growing up or even when grown up. Even though these organizations have their similarities and differences, they all have one thing in common which is they try show that there is more to people than just Down Syndrome.
Side Effects
When someone is born with Down Syndrome there are some side effects that come along with it. One side effect is that their vision and hearing will not be the best. Another side effect is that they will have thyroid problems and even heart defects. The last side effect is they will have intestinal malformations which is the most common with Down Syndrome.