Genetics Lesson.

In honor of Down Syndrome Awareness Month, I thought I'd share a little genetics lesson.

From the National Down Syndrome Society:

In every cell in the human body there is a nucleus, where genetic material is stored in genes. Genes carry the codes responsible for all of our inherited traits and are grouped along rod-like structures called chromosomes. Normally, the nucleus of each cell contains 23 pairs of chromosomes, half of which are inherited from each parent.

Down syndrome is usually caused by an error in cell division called "nondisjunction." Nondisjunction results in an embryo with three copies of chromosome 21 instead of the usual two. Prior to or at conception, a pair of 21st chromosomes in either the sperm or the egg fails to separate. As the embryo develops, the extra chromosome is replicated in every cell of the body. This type of Down syndrome, which accounts for 95% of cases, is called Trisomy 21.  

(Nondisjunction is what happened in Miss Banana.  I'd also like to emphasize the point that Miss Banana's extra genetic material comes from either Dr. C or myself...it's not an alien chromosome that came out of nowhere.  Miss B simply got an additional copy of either Dr. C or I's genetic makeup, not a separate "Down syndrome chromosome".  It is the fact that she has that extra genetic material that causes her to have Down syndrome. 

As an example...it's like she got two doses of my stubbornness and one dose of Dr. C's stubbornness...NOT one dose of my stubbornness, one dose of Dr. C's stubbornness and one dose of Down syndrome stubbornness.  Hope that makes sense! 

P.S. We don't know if it was me or Dr. C that gave her the extra chromosome.  And it doesn't matter.)

The two other types of Down syndrome are called mosaicism and translocation. Mosaicism occurs when nondisjunction of chromosome 21 takes place in one-but not all-of the initial cell divisions after fertilization. When this occurs, there is a mixture of two types of cells, some containing the usual 46 chromosomes and others containing 47. Those cells with 47 chromosomes contain an extra chromosome 21. Mosaicism accounts for about 1% of all cases of Down syndrome. Research has indicated that individuals with mosaic Down syndrome may have fewer characteristics of Down syndrome than those with other types of Down syndrome. However, broad generalizations are not possible due to the wide range of abilities people with Down syndrome possess.

Translocation accounts for about 4% of all cases of Down syndrome. In translocation, part of chromosome 21 breaks off during cell division and attaches to another chromosome, typically chromosome 14. While the total number of chromosomes in the cells remain 46, the presence of an extra part of chromosome 21 causes the characteristics of Down syndrome.

And now we come to the end of our little genetics lesson. 
 
Feel free to ask questions if you have any!

Speaking correctly.

I'm a bit of a stickler for my children pronouncing words correctly and using proper grammar.  I know this is slightly hypocritical of me; I'm sure my blog posts are riddled with improper punctuation and word choice.  Despite my flaws, I do make an attempt to speak correctly and I expect my children to speak well also.

T-Man is a talker.  He has a huge vocabulary and can make conversation with anyone about any subject.  In fact, sometimes we have to remind him that other people need a turn to talk.  In all of these conversations, his pronunciation is usually flawless...at least it was until last night.

He came home from school with a tooth about to fall out of his head. 

I gave it a little push, and out it came.

Poor kid, definitely going to need braces.

And now words like "police" are being pronounced "pol-isth".  And "rice" is "rye-th". 

Strangely, my language OCD is not bothered by this yet; in fact, I find it adorable.  Although it is pretty hard to take him seriously when he tells us to "Sth-op laughing!" whenever he talks.

Love you, T-Man!!

And while we are speaking about language, in honor of Down Syndrome Awareness Month, I thought you all would like to know how to speak correctly about Down syndrome.  When I first got Miss B's diagnosis, the NDSS website was one of the first places I went for information.  I read and re-read reading all of their "About Down syndrome" pages a gazillion times, trying to soak it all in.  I remember thinking that I had no idea how to speak correctly about Down syndrome, about my baby.  Oy! I had a lot to learn!

I know most of you already say these things correctly;  thank you for being respectful and sensitive and for using the preferred terms and language when you talk about my little lady and all of her Trisomy 21 brothers and sisters.
Here's the "Preferred Language Guide" from the National Down Syndrome Society's website:

Below is the proper use of language for “Down syndrome”:
• Down vs. Down’s - NDSS uses the preferred spelling, Down syndrome, rather than Down’s syndrome. While Down syndrome is listed in many dictionaries with both popular spellings (with or without an apostrophe s), the preferred usage in the United States is Down syndrome. This is because an “apostrophe s” connotes ownership or possession. Down syndrome is named for the English physician John Langdon Down, who characterized the condition, but did not have it. The AP Stylebook recommends using “Down syndrome,” as well.
 
• People with Down syndrome should always be referred to as people first. Instead of “a Down syndrome child,” it should be “a child with Down syndrome.” Also avoid “Down’s child” and describing the condition as “Down’s,” as in, “He has Down’s.”
 
• Down syndrome is a condition or a syndrome, not a disease.
 
• People “have” Down syndrome, they do not “suffer from” it and are not “afflicted by” it.
 
• While it is unfortunately clinically acceptable to say “mental retardation,” you should use the more socially acceptable “intellectual disability”. NDSS strongly condemns the use of the word "retarded" in any derogatory context. Using this word is hurtful and suggests that people with disabilities are not competent.

Down Syndrome Q&A

Since October is Down Syndrome Awareness Month--I'll be spending a little more time on Ds than I usually do.  (Ha!  Some of you probably think that's the ONLY thing I talk about anyway!  Be prepared for more!)

These are some questions people have actually asked me about Down syndrome--and experience tells me me that if one person actually ASKS the question, then other people are probably thinking the same thing, they just don't speak up.

A lot of these questions can be found on the National Down Syndrome Society's (NDSS) website, but I've added in some of my own thoughts as well.

What causes Down syndrome?

From NDSS:Down syndrome is usually caused by an error in cell division called "nondisjunction." Nondisjunction results in an embryo with three copies of chromosome 21 instead of the usual two. Prior to or at conception, a pair of 21st chromosomes in either the sperm or the egg fails to separate. As the embryo develops, the extra chromosome is replicated in every cell of the body. This type of Down syndrome, which accounts for 95% of cases, is called Trisomy 21.

This is the type of Down syndrome that Miss B has.  Dr. Genes, our fabulous geneticist that studied the Miss B's chromosomes, referred to it as "your garden variety Trisomy 21".  Ha!

Did you do something when you were pregnant that caused Miss B to have Down syndrome?

No.  According to Dr. Genes, there is nothing that anyone can do to cause or prevent nondisjunction from occurring.  It just happens.

         From NDSS:

The cause of nondisjunction is currently unknown, but research has shown that it increases in frequency as a woman ages. There is no definitive scientific research that indicates that Down syndrome is caused by environmental factors or the parents' activities before or during pregnancy. 

Oh, and for those of you that were taught in school that Down syndrome occurs because the mother did a lot of drugs...I (and I would guess the majority of mothers of kids with Ds that I know) am living proof that that is simply not true.  I have never done any sort of drugs in my life--I've never even had a drink of alcohol and never touched a cigarette for that matter either.  I have to be in some serious pain to even take Tylenol--which is just about the safest drug out there...so if you would please correct your teachers on that one, I would appreciate it.

But you're not old enough to have a child with Down syndrome?!  I thought you were "safe" until you were 35?

Surprise!  Due to higher birth rates in younger women, 80% of children with Down syndrome are born to women under 35 years of age.

And honestly, Miss B is so fabulous that I am grateful that I was not "safe" from having a child with Down syndrome.  We feel like the lucky ones!

Miss B is ALWAYS happy!  But then all people with Down syndrome are like that I guess.

In general, Miss Banana is a pretty content little lady.  She likes to smile, she likes to laugh, and she goes with the flow.

But...you should see here when you get out her favorite food (bananas) and then pretend like you aren't going to share with her.  She can throw a tantrum--complete with yelling and crying--to rival the best of them. 

Or, try to go outside and not take her with you...and then be prepared for her to give you the cold shoulder when you come back in. 

Or watch her older brothers try to play with toys without her...and she will throw some elbows and pull some hair to fight her way in. 

Trust me, she is not ALWAYS happy.  She has a full range of emotions, just like people with 46 chromosomes do.

And compared to the boys, I can already tell she's going to be a bit more of a drama queen then they are...but I think that's due to the fact that she has two X chromosomes...not that she has an extra 21st chromosome!

I am so sorry that you will have to deal with a severely retarded child.

I know people mean well when they say things like this...especially right after we received Miss B's diagnosis...but...PLEASE don't say this to a mom with a brand new child with Down syndrome.  No one knows the full capabilities of ANY child and it kind of stings when people automatically assume that Miss B will never learn and will never be able to participate in society in a meaningful way.

From NDSS:

Most people with Down syndrome have IQs that fall in the mild to moderate range of intellectual disability (formerly known as “retardation”). Children with Down syndrome fully participate in public and private educational programs. Educators and researchers are still discovering the full educational potential of people with Down syndrome.

I know the term "mental retardation" is not the favorable term right now...especially since the word r*tard is used as derogatory slang.  But what should I call Miss B's diagnosis?

While I don't prefer the term "mentally retarded"--mainly because of the negative stigma that the word r*tarded has taken on--when used in the medical sense, I don't cringe as much.  It's not my preference, but it has been used for years, so I don't get all worked up about people using it as part of her diagnosis.  If you use the r-word as slang though, you are making fun of my daughter and I become mama bear.  Just FYI.

Recently though, the federal government changed their wording to refer to people with Down syndrome as having an "intellectual disability".  Or, you could also just simply say she has a "developmental delay."  Either one is perfectly acceptable.

I have heard the term "handi-capable" and I like that one--probably not going to show up on government forms though!

Those are just some of the questions I've gotten in the past few months.  If you have any other questions, please let me know!

Happy Down Syndrome Awareness Month!

October is Down Syndrome Awareness month! This month is also special to me because one year ago this month (on Oct. 29) I got the phone call from my midwife's office telling me that the results of my Quad screen were in and I had raised AFP levels which could indicate my baby had Down syndrome. The idea of having a child with Down syndrome had never crossed my mind before, so I find it highly coincidental that I found out about Ds during Down Syndrome Awareness month. I am really excited about this month because we have two Buddy Walks we will walk in and I just hope that as people around the country advocate for Down syndrome this month particularly, that love and acceptance of people with Down syndrome will abound and the world will be a happier place.

Here are some facts about Down Syndrome from the National Down Syndrome Society Website:
(Click on the button on the left to learn more and I'll post more info throughout the month.)

• Down syndrome is a genetic condition that occurs in one in every 733 births. It is the most frequently occuring chromosomal condition and is found in people of all races and economic levels. More than 400,000 people in the United States have Down syndrome.
• People with Down syndrome have an increased risk for certain medical conditions such as congenital heart defects, respiratory and hearing problems, Alzheimer's disease, childhood leukemia, and thyroid conditions. However, many of these conditions are now treatable, so most people with Down syndrome lead healthy lives. Life expectancy for people with Down syndrome has increased dramatically in recent decades--from 25 in 1983 to 60 today.
• People with Down syndrome experience cognitive delays, but the effect is usually mild to moderate and is not indicative of the many strengths and talents each individual possesses. Children with Down syndrome learn to sit, walk, talk, play, and do most other activities; only somewhat later than their peers without Down syndrome.
• Quality educational programs, a stimulating home environment, good health care, and positive support from family, friends and the community enable people with Down syndrome to develop their full potential and lead fulfilling lives. People with Down syndrome attend school and work, and participate in decisions that concern them, and contribute to society in many wonderful ways.

Baby #3 and The Unexpected

I'm way behind in posting this and some of you know and some of you don't that we are expecting baby #3 (a little girl!) on April 5th. We, of course, have known for a long, long time but I don't usually tell people that I'm expecting until after I know the gender or until people look at me and realize I'm wearing maternity clothes--which I have been wearing for several weeks now, but some people STILL don't know (I guess they just think I'm getting really fat?!?) so I thought I'd post about it. I'm a little at a loss as to what to do with a girl and completely overwhelmed at all the accessories that come with girls--you'd think that, being a girl myself, I would know what to do, but after having two boys, I'm not sure that I know what to get when I walk into the pink aisle!

Along with the newness of having a girl, we also found out that our daughter has Down syndrome and a congenital heart defect (called AV canal defect, or AVSD) that will require open heart surgery sometime this summer. While the news came as quite a shock, we are excited about welcoming this sweet little daughter of God into our family and no sympathy is needed. We have been very blessed to have children sent to our family and feel that our daughter will also be a blessing to us.

Since receiving this news, we've realized that most people don't know what to say when we tell them or that people say things that they don't realize are offensive. While we don't want to be the politically correct police, we do plan on being an advocate for our daughter. So here are a few things that people should know:

• Using the word retarded for anything you don't like is extremely offensive. If you think something or someone is doing something unpleasant, please use a different word. Retarded actually means "slow" not stupid or rediculous.
• An individual with Down syndrome is an individual first and foremost. The emphasis should be on the person, not the disability. A person with Down syndrome has many other qualities and attributes that can be used to describe them.
• Please use people-first language. "The person with Down syndrome", not "the Down syndrome person." A person with Down syndrome is not "a Downs". It is also inappropriate to say "a person is Down syndrome"...they are a person, not a syndrome.
• A person "has" Down syndrome, rather than "suffers from," "is a victim of," "is diseased with" or "afflicted by."

One other story that is well known among parents that have children with disabilities and which describes the feelings really well, is called "Welcome to Holland" by Emily Perl Kingsley. We thought we'd add that here to give some insight.

Welcome to Holland

I am often asked to describe the experience of raising a child with a disability - to try to help people who have not shared that unique experience to understand it, to imagine how it would feel. It's like this...
When you're going to have a baby, it's like planning a fabulous vacation trip - to Italy. You buy a bunch of guide books and make your wonderful plans. The coliseum. The Michelangelo David. The gondolas in Venice. You may learn some handy phrases in Italian. It's all very exciting.
After months of eager anticipation, the day finally arrives. You pack your bags and off you go. Several hours later, the plane lands. The stewardess comes in and says, "Welcome To Holland".
"Holland?!?" you say, "What do you mean "Holland"??? I signed up for Italy! I'm supposed to be in Italy. All my life I've dreamed of going to Italy"
But there's been a change in the flight plan. They've landed in Holland and there you must stay.
The important thing is that they haven't taken you to a horrible, disgusting, filthy place, full of pestilence, famine and disease. It's just a different place.
So you must go and buy new guide books. And you must learn a whole new language. And you will meet a whole new group of people you would never have met.
It's just a different place. It's slower-paced than Italy, less flashy than Italy. But after you've been there for a while and you catch your breath, you look around…and you begin to notice that Holland has windmills...Holland has tulips. Holland even has Rembrandts.
But everyone you know is busy coming and going from Italy...and they're all bragging about what a wonderful time they had there. And for the rest of your life, you will say "Yes that's where I was supposed to go. That's what I had planned".
And the pain of that will never, ever, ever, ever go away...because the loss of that dream is a very significant loss.
But...if you spend your life mourning the fact that you didn't get to Italy, you may never be free to enjoy the very special, the very lovely things...about Holland.

© 1987, by Emily Perl Kingsley. All rights reserved.