Trisomy Awareness Month is observed in March. Trisomy is a congenital disorder that occurs when there are three copies of a chromosome instead of the typical two—which is why March, the third month of the year, is chosen as a time to acknowledge these differences.
Down syndrome (or trisomy 21) is the most frequently occurring chromosomal disorder, where the 21st chromosome is copied three times. Other forms of trisomy also occur, including trisomy 18 (also known as Edward's syndrome) and trisomy 13.
Observing trisomy and Down syndrome (World Down Syndrome Day is March 21) is not only an opportunity to raise awareness about these differences but also to recognize and celebrate the lives of those living with trisomy and their parents and caregivers. Trisomy Awareness Month is also a great time for supporting organizations that can further the state of research, treatment, and care for children with trisomy.
What is Down syndrome?
Named after the English doctor John Langdon Down, who was the first to categorize the common features of people with the condition, Down syndrome is the most frequently occurring trisomy and the leading cause of intellectual and developmental delay in the world.
According to the Centers for Disease Control and Prevention, approximately 6,000 babies are born in the United States each year with Down syndrome (approximately 1 out of every 700 births). As a result of appropriate support and treatment (like congenital cardiac surgery) in recent decades, life expectancy for people with Down syndrome has increased dramatically— from 25 years in 1983 to more than 60 years today. In the U.S., many people with Down syndrome complete high school and often proceed to post-secondary schools. An increasing number of colleges and universities have programs that are specifically designed for differently-abled students. Many individuals with Down syndrome work and/or volunteer, and a growing number live independently.
What causes Down syndrome?
Down syndrome is caused by a random error in cell division that results in an extra copy of chromosome 21 in every cell. There are no known environmental causes.
While not all risk factors for Down syndrome are known, parents who have a child with Down syndrome or another chromosomal disorder, or who have a chromosomal disorder themselves, are more likely to have a child with Down syndrome. Age is also a risk factor; the likelihood that an egg will contain an extra copy of chromosome 21 increases significantly as a parent ages. However, approximately 60 percent of babies with Down syndrome are born to women under age 35.
What are symptoms of Down syndrome?
The features of trisomy 21 vary from person to person. Common symptoms include:
- Decreased or poor muscle tone
- Short neck
- A flattened face, especially the bridge of the nose
- Small head, ears and mouth, including narrow nasal passages
- A tongue that often sticks out of the mouth
- Small hands and feet
- Upward slanting eyes
- Single crease across the palm of the hand
- Deep groove between the first and second toes
Many of these features can be seen on prenatal ultrasound and may be the first indication that a baby has Down syndrome.
Physical development in children with Down syndrome can be slower than those without Down syndrome. Due to poor muscle tone, for example, a child with Down syndrome may be slower to learn to turn over, sit, stand, and walk. While it may take children with Down syndrome longer to reach developmental milestones, they will eventually meet all or most of them. Early intervention for babies with Down syndrome is very important. The appropriate physical and speech therapies, particularly in the first five years of life, can significantly improve speech and cognitive development.
People with Down syndrome are more predisposed than others to certain medical conditions including congenital heart defects, sleep apnea, hearing loss and Alzheimer’s disease. There is also increased risk of celiac disease, autism, childhood leukemia, and seizures and screening for these are important. Many of these medical conditions can be treated, and many people with Down syndrome will not experience these medical conditions.
How the NozeBot can help children with Down syndrome
Otolaryngologic (ear, nose, and throat) problems are common in children with Down syndrome. Dr. Steven Goudy, a pediatric ENT and founder of Dr. Noze Best, has treated many children with Down syndrome for hearing loss, sleep disorders (such as obstructive sleep apnea), recurrent croup, and chronic nasal congestion. Nasal congestion is one of the first issues experienced by children with Down syndrome due to the smaller nasal passages. This impacts breathing, eating, and sleeping.
“Babies are obligate nasal breathers for the first 12 months of life,” says Dr. Goudy. “The nasal passages of babies with Down syndrome are narrow and thus predisposed to chronic nasal congestion, nasal drainage, and more frequent sinus infections. These issues impact the suck/swallow/breathe rhythm. Obstruction of the upper airway can also stress the heart of these Down syndrome warriors. Keeping the nasal passage clean is critical.”
Dr. Goudy’s Down syndrome patients and their caregivers were among those who inspired him to create a nasal suction device that would rival the suction he was able to provide at the hospital, making life a little bit easier for children and their caregivers. “The NozeBot is a best-in-class solution for these families.”
Dr. Noze Best provides a portion of every NozeBot sale to organizations that support Down syndrome research, education, and support, including the National Association for Down Syndrome and the Down Syndrome Association of Atlanta. We hope you will join us in supporting the work of these organizations.
About Dr. Noze Best
Dr. Noze Best was founded to bring relief to families battling upper respiratory discomfort and illness. The company is led by Dr. Steven Goudy, a distinguished pediatric ENT who developed the NozeBot in response to families’ frustration with nasal suction devices currently on the market. Our goal is to help your baby breathe, help you manage colds at home, and give you peace of mind.