Down syndrome remains the most commonly diagnosed chromosomal condition with approximately 6,000 afflicted babies born in the U.S. each year. This means that Down syndrome occurs in about 1 out of every 700 babies.
In recognition of Down Syndrome Awareness Month, this post provides information about Down syndrome taken from the U.S. Centers for Disease Control (CDC) and Prevention website. It also provides a personal story about John Nguyen, a coworker at TriLink, whose first born son, Jordan, has Down syndrome. I’d like to first introduce the Nguyen’s story and then continue on with an overview of Down syndrome causes, risk factors and diagnosis.
The Nguyen Family
When John and his wife, Jessica heard, “Your child may have Down syndrome,” they, like most parents who receive this news, were saddened and confused. What did this mean? Will he or she be healthy? What do we do next? So many questions and emotions shook up their world in a way they never expected.
When they welcomed Jordan into the world, his condition was still unknown and his heart needed to be monitored so they were only able to hold him for a few seconds before he was whisked away. But that’s all they needed to know they were a family and they were in this together. Jordan spent 10 days in the NICU. In addition to having Down syndrome, he was also diagnosed with a congenital heart condition called Ebstein’s anomaly.
Jessica said, “Although it was difficult in the beginning, we quickly realized how lucky we were and how amazing he is. His heart condition remains stable. Throughout this journey we have remained positive and refuse to let his diagnoses damper or put a limit to what Jordan can accomplish and achieve… The route to parenting we thought we were going to take was detoured and I consider it a blessing. We now get to appreciate things we never previously considered. We have met people we never would have met otherwise. And now know a love so deep that we never could have imagined. Love not only for and from our son but also from the love and support of our family, friends, and community. Those questions and emotions in the beginning really shook up our world….but in the best way possible.”
John and Jessica actively fundraise for the Down Syndrome Association of San Diego, whose mission is to enhance the quality of life for people with Down syndrome and their families through education, social and support programs. They participate in the Buddy Walk® each year.
TriLink is donating $5* to the Nguyen’s Buddy Walk® team for each share this post receives. Help us spread awareness about this common and often misunderstood condition.
Types of Down Syndrome
Down syndrome, which was first characterized by English physician John Langdon Down in 1862, is a condition in which a person has an extra chromosome. Typically, a baby is born with 46 chromosomes—23 from both mother and father. Babies with Down syndrome have an extra copy of one of these chromosomes, chromosome 21. A medical term for having an extra copy of a chromosome is ‘trisomy.’ Down syndrome is also referred to as Trisomy 21. This extra copy changes how the baby’s body and brain develop, which can cause both mental and physical challenges for the baby.
Taken from http://theoneinathousand.blogspot.com/2012/10/october-is-down-syndrome-awareness-month.html
There are three types of Down syndrome. People often can’t tell the difference between each type without looking at the chromosomes because the physical features and behaviors are similar.
- Trisomy 21: ~95% of people with Down syndrome have Trisomy 21, wherein each cell in the body has 3 separate copies of chromosome 21 instead of the usual 2 copies.
- Translocation Down syndrome: This type accounts for ~3% of people with Down syndrome. This occurs when an extra part or a whole extra chromosome 21 is present, but it is attached or “trans-located” to a different chromosome rather than being a separate chromosome 21.
- Mosaic Down syndrome: This type affects ~2% of the people with Down syndrome, wherein some of their cells have 3 copies of chromosome 21, but other cells have the typical two copies of chromosome 21.
Causes and Risk Factors
Researchers know that Down syndrome is caused by an extra chromosome, but no one knows for sure why Down syndrome occurs or how many different factors play a role. One factor that increases the risk for having a baby with Down syndrome is the mother’s age. Women who are 35 years or older when they become pregnant are more likely to have a pregnancy affected by Down syndrome than women who become pregnant at a younger age. However, the majority of babies with Down syndrome are born to mothers less than 35 years old, because there are many more births among younger women.
Diagnosis
Doctors can diagnose Down syndrome during pregnancy or after the baby is born. Some families want to know during pregnancy whether their baby has Down syndrome. Diagnosis of Down syndrome during pregnancy can allow parents and families to prepare for their baby’s special needs.
Screening for Down syndrome
Screening tests often include a combination of a blood test, which measures the amount of various substances in the mother’s blood (e.g., MS-AFP, Triple Screen, Quad-screen), and an ultrasound, which creates a picture of the baby. During an ultrasound, one of the things the technician looks at is the fluid behind the baby’s neck. Extra fluid in this region could indicate a genetic problem. These screening tests can help determine the baby’s risk of Down syndrome. Rarely, screening tests can give an abnormal result even when there is nothing wrong with the baby. Sometimes, the test results are normal and yet they miss a problem that does exist.
A relatively new test used since 2010 to detect certain chromosome problems including Down syndrome, screens for small pieces of the developing baby’s DNA that are circulating in the mother’s blood. This test is recommended for women who are more likely to have a pregnancy affected by Down syndrome, especially mothers over the age of 35. The test is typically completed during the first 3 months of pregnancy, and it is becoming more widely available from Sequenom, Natera, and other companies.
Following a positive screening test, diagnostic tests are usually performed in order to confirm a Down syndrome diagnosis. Types of diagnostic tests include:
- Chorionic villus sampling (CVS)—examines material from the placenta
- Amniocentesis—examines the amniotic fluid (the fluid from the sac surrounding the baby)
- Percutaneous umbilical blood sampling (PUBS)—examines blood from the umbilical cord
These tests look for changes in the chromosomes that would indicate a Down syndrome diagnosis.
What to expect after birth
Most pregnancies involving Down syndrome are uncomplicated and proceed normally. Once a baby with down syndrome is born, however, he/she should receive an echocardiogram (an ultrasound picture of the heart) because almost half of all babies born with Down syndrome have a heart defect. The doctor will usually order tests of the baby’s blood to confirm whether there is an extra chromosome (chromosome 21) in the baby’s cells and make an official diagnosis.
Living with Down syndrome
Down syndrome is a lifelong condition. Services early in life will often help babies with Down syndrome improve their physical and intellectual abilities. Most of these services focus on helping children with Down syndrome develop to their full potential and include speech, occupational, and physical therapy. These services are offered through early intervention programs in each state. Children with Down syndrome may also need extra help or attention in school, although many children are included in regular classes.
In addition to state-run programs, families of Down syndrome children often find support and resources by connecting with one another and joining national organizations such as National Down Syndrome Society and National Association for Down Syndrome. Several campaigns including Buddy Walk® and Down Syndrome Awareness Month have taken shape over the past few decades to raise awareness of and acceptance for those with Down syndrome. It is important for everyone to understand that people with Down syndrome can lead productive and fulfilling lives well into adulthood. They hold jobs, live independently and contribute to their communities.
Share this blog and raise money for Down syndrome research
In support of Down Syndrome Awareness Month, I hope you’ll take a moment to find out more about Down syndrome, or better yet to support a fundraising or awareness effort in your community. I personally invite you to share this blog to help raise money* for Down syndrome.
Thanks to all of our loyal readers, we reached our initial goal and raised $1,500 for the Buddy Walk® in less than 8 hours! But we're not stopping there, we'll donate an additional $1* for every new share we receive.
* up to $2,500.
