What IS Down syndrome?

Published by Josie on January 10, 2023

If you google “what is Down syndrome” you will be seeing words like disorder, abnormality, disability, and other words that don’t paint a true picture of what this diagnosis means. So yes, Down syndrome is a genetic disorder caused by the presence of an extra copy of chromosome 21. It is a common chromosomal abnormality, occurring in about 1 in every 700 babies born worldwide. There is no know cause…it just happens! And if it happens to you, I am here to tell you it can be the biggest gift of your life.

People with Down syndrome have intellectual disabilities and may have physical differences such as a low muscle tone, shorter height, delayed speech, etc . They may also have certain medical conditions, such as heart defects and respiratory problems.

BUT

The things people don’t get told is that they can have a single line across their palms called a Simian Crease. They can have something called Brushfield Spots which makes their eyes seem to sparkle more. When your baby with Down syndrome snuggles you, it feels like they¬† melt right into you…it is heavenly!

Down syndrome is not a disease and cannot be “cured”. However, with early intervention, children with Down syndrome can develop to their full potential and lead fulfilling lives. Treatment may include physical, occupational, and speech therapy, as well as specialized education.

It is important to remember that people with Down syndrome are more similar to others than they are different. They have their own unique personalities, talents, and abilities, and deserve to be treated with respect and kindness.

There are many organizations and resources available to support individuals with Down syndrome and their families. These can provide information, resources, and support to help individuals with Down syndrome live fulfilling lives and participate fully in their communities.

DSDN: Down syndrome Diagnosis Network-so many good resources and information!

Jack’s Basket-let’s celebrate these babies!

DSAW-Here is a great, in-depth explanation of “What is Down syndrome”.

And I would like to be a great resource for you if you have any questions! My daughter had the most common heart defect among our babies which is an AV Canal Defect. You can read more about her story here or email me so we can chat!