Down syndrome FAQ

When Alice was born 10 weeks ago, I didn't know one thing about Down syndrome.  I didn't even know the correct name.  When I sent out the email telling family and friends about her diagnosis, I wrote that we thought she had "Downs syndrome" (with an “S” at the end).  That's how little I knew about it.

So, if you're like I was and you don't know the first thing about Down syndrome, here are some quick facts I've learned.

Q: What is Down syndrome?

A: Down syndrome is the most commonly occurring chromosomal genetic condition.  It affects people of all backgrounds, races and economic levels.

Q: How common is Down syndrome?

A: Down syndrome occurs in approximately 1 out of every 700 births. There are 6,000 babies with Down syndrome born in the United States every year.  Today, there are 250,000 people in the United States that have Down syndrome.

Q: How did Down syndrome get its name?

A: In 1866, British physician John Langdon Down discovered what is now known as Down syndrome.  In the early 1970s, when Down syndrome really began to be studied and understood, the term “Down syndrome” was adopted, named after John Langdon Down’s last name.

However, as a collective group, the moms across the country who have kids with Down syndrome have started to rename it “up syndrome.”  J

Q: What causes Down syndrome?

A: Down syndrome occurs at conception when two copies of chromosome 21 fail to separate.  This results in the baby having three copies of chromosome 21 in each of its cells.  This extra copy of the 21st chromosome that causes Down syndrome can originate from either the father or the mother.  It is not something that can be prevented.  It’s a chance happening and occurs as a random event during cell division very early in fetal development.  Down syndrome has nothing to do with anything the mother or father did before or during pregnancy.

Q: Is there a certain way to refer to a person who has Down syndrome?

A: Yes.  This is what I've learned:  An individual with Down syndrome is an individual first and foremost.  The emphasis should be on the person, not the disability.  As a result, it's correct to say, "A baby with Down syndrome" rather than "a Down syndrome baby." 

It's also important to note that each person with Down syndrome is their own person.  Yes, they have Down syndrome, but that's just a small part of who they are.  Each person with Down syndrome has his or her own unique strengths, capabilities and talents.  All people with Down syndrome are not the same, just like all people without Down syndrome are not the same.

In a similar way, each person with Down syndrome looks different from each other.  I'm embarrassed to admit that I used to think everyone with Down syndrome looked the same.  They don't.  They all might look like they have Down syndrome to some degree, but each person with Down syndrome also looks a lot like their parents and siblings.  A few people have told me, "Alice looks so much like Lucy did as a baby!"  This makes me so happy.  And she really does.

Q: Are there different types of Down syndrome?

A: Yes. There are three different types of Down syndrome.

• Trisomy 21: This is the most common type of Down syndrome and accounts for 95% of all cases.  Blood work confirmed that this is the type of Down syndrome that Alice has.  Trisomy 21 occurs when there are three, rather than two, number 21 chromosomes present in every cell of the body.  Instead of the usual 46 chromosomes, a person with Trisomy 21 has 47.  It is this additional genetic material that alters the course of development.  Trisomy 21 is not hereditary and does not "run in families."  It is a completely random, chance happening that occurs at conception.

• Translocation: This is the second most common type of Down syndrome and accounts for 4% of all cases.  In translocation, part of chromosome 21 breaks off during cell division and attaches to another chromosome.  While the total number of chromosomes in the cells is still 46, the presence of an extra part of chromosome 21 still results in Down syndrome.  Unlike Trisomy 21, translocation Down syndrome can be inherited.  Parents of kids with translocation can be carriers of the condition.

• Mosaicism: This only accounts for 1% of all cases of Down syndrome.  It occurs when the nondisjunction of chromosome 21 takes place in one—but not all—of the initial cell divisions after fertilization.  When this occurs, there's a mixture of two types of cells, some containing the usual 46 chromosomes and others containing 47.

Q: Is Down syndrome a spectrum?

A: It is not technically a “spectrum disorder” (like autism), so doctors will tell you no.  But every mom of a child with Down syndrome that I’ve talked to will tell you that it is to some degree. 

While people with Down syndrome won’t technically fall somewhere on a spectrum, there are varying levels of intelligence, physical ability, health issues, appearance and more.

Q: Do many babies with Down syndrome get aborted?

A: Yes – 70 to 90% of women who receive a prenatal diagnosis of Down syndrome choose to abort their babies.

Even if we had done prenatal testing, Alice would still be right where she is.

Q: Do people want to adopt babies with Down syndrome?

A: Yes!  There is a huge waiting list of people who want to adopt babies with Down syndrome through the National Down Syndrome Adoption Network.

Q: Is prenatal testing for Down syndrome always accurate?

A: No.  When a child in utero does in fact have Down syndrome, it is only detected with prenatal testing about 80% of the time.  The other 20% of the time, women receive test results that say their fetus does not have Down syndrome, so they are surprised by the news at birth.  I have met many of these girls.

Q: Does age of the mother have to do with an increased risk of Down syndrome?

A: Yes and no.  Although the risk of having a baby with Down syndrome does increase as women age, 80% of babies with Down syndrome are born to women under age 35.