So, I was thinking about how little I knew about Down syndrome before Julian was born. And how many questions I get asked now about it now. So, I figured I’d write a post describing the three different types of Down syndrome, and also addressing some of my most frequently asked questions which are “Can you tell how severe it is?” and “can you tell if he is high functioning”? (these are not the best questions to ask btw, I will explain why later). I cover this and more in this post. And there are some PHOTOS of Julian at the end!
The first part of this post is taken from a GREAT SITE called Noah’s Dad and their super series on a New Parent Guide to Down Syndrome. Make sure to visit their site and click around. They have lots of cute “Noah’s Minute” videos of their son Noah doing lots of different things.
What is Down Syndrome?
There are 23 types of chromosomes, one set of those being your sex chromosomes (X, and Y), and the others labeled 1 through 22. When babies are created, they receive 23 chromosomes from their mom contained in her egg and 23 chromosomes from their dad contained in his sperm, totaling 46 chromosomes.
- Nondisjunction: This is the most common reason. Cells containing 46 chromosomes are split equally to create eggs and sperm, which then contain 23 chromosomes. Nondisjunction means that the cells did not equally divide the genetic information. This creates a sperm or egg that contains 24 chromosomes with two copies of the 21st chromosome. That egg/sperm joins with a typical egg/sperm with 23 chromosomes making a cell that has 47 chromosomes and three copies of the 21st chromosome. This is known as Trisomy 21. This is a random occurrence. (this is the type that Julian has)
- Translocation: The egg or sperm have 23 chromosomes, however part of the 21st chromosome has attached itself to one of the other chromosomes during the division processes that occur when the egg or sperm were made. Therefore, even though they have the right number of chromosomes there is actually extra 21st chromosome material. This can be an inherited condition, which increases your risk of having another child with Down syndrome. Your doctor will want both parents to be tested.
- Mosaic: Not all of the cells are affected, so the baby would have cells with 46 chromosomes and also 47. This can occur in two ways. The baby either started with 46 chromosomes, however nondisjunction occurred with further cell division in only part of the cell lines creating some cells with three copies of the 21st chromosome. The other way is that the baby started out as trisomy 21 and nondisjunction occurred creating cells that now contain 46 chromosomes. This is a random occurrence.
This is a very basic overview, but hopefully helps you understand that a child born with down syndrome isn’t “sick,” nor did he “catch something.” (By the way, a person can’t “catch” Down syndrome!) S/he simply has an extra copy of his 21st chromosome.
Thanks for the awesome overview, Noah’s Dad! Again, please make sure to read the rest of Noah’s Dad’s New Parent Guide to Down Syndrome. Lots and lots of great resources/tips in there.
So, Now Onto the Frequently Asked Questions
Q1.”Can you tell how severe it is?”
Q2. “can you tell if he is high functioning”?
Q3. “but he doesn’t LOOK like he has Down syndrome”?
What I usually say is a shortened version of the following. It is important to be to educate those who don’t know much about Down syndrome, because I understand that the reason they are asking me these things is that they truly don’t know much about Down syndrome! (Like I used to be before Julian was born)
A to Q1 & Q2 “Can you tell how severe it is?” and “can you tell if he is high functioning”?
Similar to typically developing children, you don’t know what types of individual capabilities, strengths and weaknesses people with Down syndrome are going to have. Everyone is unique and everyone has their own personality. When children with Down syndrome are babies, just like any typically developing child, you can not tell what their skills or interests will be. You just have to let them grow up and develop!
So, that being said – it is known that many individuals with Down syndrome have developmental and cognitive delays, so Julian participates in what is called “Early Intervention” – a service provided by the state. Early intervention focuses on just that – making sure to intervene early so that children with Down syndrome can reach their maximum potential.
So for example, here is Julian’s therapy schedule:
1x week – developmental specialist
1x week – physical therapy
2x month – occupational therapy
1x month – speech therapy
A to Q3. “But he doesn’t LOOK like he has Down syndrome”?
Hmm..I am not really sure why people say this. Are they just commenting on appearance? Which I think is what it is….people have a certain “way of looking” that they imagine people with Down syndrome looking like. But, did you know that not all people with Down syndrome look the same? Have you ever considered that you might not be “seeing” all of the people with Down syndrome around you? Anyway, I digress.
I don’t really know how to honestly answer this question because I am not sure what people are trying to ask me, or why they are saying it.
Julian has Down syndrome. That’s a fact. Either you have it, or you don’t. He has three copies of his 21st chromosome which affects who he is. However, it does not define him.
And in fact, Julian DOES look like he has Down syndrome. And he is beautiful.
So, in summary about my FAQs, I understand people’s curiosity and I feel honored that people feel comfortable enough to ask questions like these to me directly. I know I will have to answer many, many, many questions about Julian in the future.
But for reference, it is better to ask someone who has a child with a disability about the CHILD and how the CHILD is doing and focus on them and not their disability or what their “level of functioning” is.
So, here are some good things to say to express your genuine interest in Julian:
1) How is Julian doing these days?
2) What are his favorite things to eat lately?
3) What does he like to do?
4) How is daycare going?
5) Have you bought him any cute clothes lately? (one of my favorite things to do)
6) What do you guys like to do as a family together?
7) What kind of funny things does Julian like?
That way I can answer you and tell you everything about my little man and I can go on and on! I know we are all curious about how Julian will develop. I am curious too! In particular really hope that he is able to develop language capabilities in order to be able to communicate effectively with those around him. We are working on that….
But, Julian is going to develop like he develops. He will have his strengths and weaknesses, just like all of us. And the only thing that really matters is that we love him!
What I am trying to say is that although I understand that you don’t know much about individuals with disabilities or Down syndrome in general, please think of them as just people with differences. They are not to be thought of as whether or not they “function” like a typically developing child. They are to be thought of as people that happen to have a little something unique about them that requires some special help/guidance. They have things they like to do, dreams, likes, dislikes, things that make them laugh.
Again I hope I am not preaching too much here, and thank you for reading. My goal with my blog is to reach those who were like me before Julian was born (aka really actually quite scared and fearful of people with disabilities and didn’t know how to interact with them).
I am also realistic in that I know Julian will have struggles in his life. His different path might lead to some difficulties and special challenges. In fact, I know it will.
The best thing I heard when I was having trouble with my diagnosis is from a book “You Will Dream New Dreams; Inspiring Personal Stories by Parents of Children with Disabilities” and one writer said (this is summarized):
I came to realize that it is not MY dreams I have for my child that matters, it is THEIR dreams.
So, if you are reading this blog and you are a mom to be expecting a baby with Down syndrome, congratulations! You might be grieving what you thought would be a “typical” life with a ‘typical” progression of development. That is OK, I went through that process too. But I can honestly say that these first 14 months with Julian have been “more alike than different.” I know he is going to do big things with his life. I just know it. What those things might be? I don’t know yet. But I can dream…
And for all of you still reading, thank you! And here is some eye candy of our recent trip to Bloomington, Indiana to celebrate the life of my grandfather Julius Sonneborn.
If you are on Twitter, look me up @Julians_Journey
And I love comments and questions! Make sure to leave your blog link so I can read about you and stalk you.
To scroll through the photo slideshow below, click the right/left arrow buttons or use your mouse scroll button.