Today, March 21st, is World Down Syndrome Day. Why March 21st? Because Down Syndrome (or T21) is a chromosomal defect where three copies of the 21st chromosome are present. 3 copies of the 21st chromosome=3/21. Get it?
It’s also an excuse for Dadad to dress Sarah in his alumni colors of yellow and blue (can you guess where he went to school?) but I digress.
I would like to take this opportunity to give some facts and information on Down Syndrome and my wishes for the future of Down Syndrome and for my daughter.
What is Down Syndrome?
Down Syndrome is the most common genetic defect. It is a triplication of the 21st chromosome, also known as trisomy 21. It affects about 1 in 800 live births. Approximately 150 thousand babies are born each year with Down Syndrome worldwide.
What are some of the symptoms of Down Syndrome?
The most common symptoms of Down Syndrome are cognitive delays (learning disabilities), small stature/slow growth, distinctive facial features such as an absent nasal bridge, almond-shaped eyes, a small mouth (sometimes accompanied by a protruding tongue), and light colored (brushfield) spots in their eyes. Other physical signs include a single crease across the palm, short, stubby fingers or a “sandal toe” (large gap between the big toe and other toes). Not every person with Down Syndrome will have every physical feature of Down Syndrome.
What are some health problems that can occur alongside Down Syndrome?
The most common physical health problems that accompany Down Syndrome are heart conditions such as AVSD, ASD and VSD (holes in the heart), conditions of the intestine such as a duodenal atresia (“double bubble”), vision problems such as myopia, amblyopia, strabismus or nystagmus, thyroid problems, low muscle tone, hearing loss, an increased risk of leukemia (but better chances of responding to treatment, and lower risk for other cancers!), or seizures. However, none of these things are a sure thing. A child with Down Syndrome can be born with many health problems or no health problems, just like a child without Down Syndrome.
I’ve heard Down Syndrome is more common if you’re over 35. Is this true?
Yes and no. Although 80% of children with Down Syndrome (including Sarah) are born to people under 35, your statistical chances for Down Syndrome are much higher after 35. Your chances under 30 are 1 in 1000, which goes up to 1 in 400 at 35, 1 in 60 at 42, and 1 in 12 at 49+.
What causes Down Syndrome?
Down Syndrome is caused by a triplication of the 21st chromosome. Although Down Syndrome is typically a random event, there is one form of Down Syndrome that is inherited.
What do you mean, different forms of Down Syndrome?
There are three different types of Down Syndrome: nondisjunction, Robertsonian translocation, and mosaic.
Nondisjunction is the most common type of Down Syndrome. Approximately 90% of all people with Down Syndrome have this type. This is a straight up triplication of the 21st chromosome. Every cell of a person with nondisjunction Down Syndrome’s body contains this triplication.
Robertsonian translocation and mosaicism account for approximately 10% of all cases of Down Syndrome. Robertsonian translocation is the only kind of Down Syndrome with a heritable component; that is, at least one parent is the carrier of the gene that is passed down and causes this type of Down Syndrome. Robertsonian translocation happens when one piece of the 21st chromosome “breaks off” and attaches to another chromosome. Every cell of a person with translocation Down Syndrome’s body contains this triplication. Mosaicism occurs in a similar way to nondisjunction, however, only some of the cells of a person’s body are affected, whereas some have the standard pair rather than a triplication. Because not every cell is affected, some people erroneously believe that this is a “less severe” form of Down Syndrome, however, this is not true.
So Down Syndrome isn’t a spectrum disorder?
No. Down Syndrome is not a spectrum disorder. You either have it or you don’t.
But I know somebody with Down Syndrome who can do x and y, and I also know somebody with Down Syndrome who can’t do x and y, so the first person is obviously higher functioning.
My fiance can play five instruments. I can’t play any instruments. Does that mean that he’s higher functioning than I am? No…it just means he can play five instruments.
People with Down Syndrome are first and foremost people. As people, they have a wide range of things they can and cannot do. That doesn’t mean that a person with Down Syndrome who can do X and Y is “higher functioning” than a person with Down Syndrome who can’t do X and Y. It just means that they have a different set of skills.
Can people with Down Syndrome learn (read, write, etc)?
Yes, absolutely! People with Down Syndrome may have cognitive delays that cause them to learn slower, but that doesn’t mean they can’t learn at all! With the proper help for them to reach their full potential, many people with Down Syndrome learn to do everything people without Down Syndrome can do, including reading, writing, math, and other academics. People with Down Syndrome can, and frequently do, graduate from high school and go on to college.
What is the life expectancy of someone with Down Syndrome?
Fortunately, life expectancy of people with Down Syndrome have improved greatly over time (in 1980, the life expectancy of a person with Down Syndrome was 25!) The average life expectancy of a person with Down Syndrome is 50, however, many people with Down Syndrome live into their 60s and even longer.
Do people with Down Syndrome live full and happy lives?
YES! People with Down Syndrome can absolutely live full and happy lives. Many people with Down Syndrome go to college, get married, drive a car, and hold down steady jobs. Although they may require ongoing support, there is no reason why they would be unable to have a full and happy life.
Can people with Down Syndrome have children?
Most men with Down Syndrome are infertile, but women with Down Syndrome are largely considered to have normal fertility, so I suppose the answer is yes. I don’t know of any couples who have Down Syndrome who have had children, though.
I’ve heard that 90% of babies with Down Syndrome are aborted. Is this true?
Again, yes and no. 90% of all babies with Down Syndrome are not aborted; only those with a prenatal diagnosis. This accounts for fewer than 20% of all babies with Down Syndrome currently. However, with new technologies emerging, it’s possible that we could see these numbers increase, which is why it’s important to educate people about the reality of Down Syndrome, rather than just the scary things that they are misinformed about.
What are your hopes for the future of Down Syndrome and how people view Down Syndrome?
I hope that people will eventually stop viewing Down Syndrome so negatively. Down Syndrome is not a death sentence! People with Down Syndrome lead full and happy lives. There’s nothing wrong with having Down Syndrome. Our focus should not be on eradicating Down Syndrome from existence, but instead on promoting education and support for people with Down Syndrome and their families. I hope that someday, there will be no more misinformation about Down Syndrome.
What are your hopes for Sarah, as a person with Down Syndrome?
I hope that Sarah is, above all, treated as a person first. I do not want people to look at her and see a disability and discredit her. I hope that she is able to be a self-advocate, and that she will want to represent people with disabilities and spread the word to change people’s viewpoints on Down Syndrome.