Physical characteristics of Down syndrome

There are certain physical characteristics of individuals with Down syndrome.

Each individual is unique, so a person might have only some, or all of the following features.

• Nose-The bridge of the nose is small and flat. This accounts for the cutest button nose you have ever seen!
• Eyes- These are the beautiful almond shaped eyes. I believe this is the most defining characteristic. Some individuals have what is called Brushfield spots in their eyes which are most common in blue eyes. I love Nichole's eyes, they are captivating!
• Mouth- Sometimes the upper lip is "lazy" due to low muscle tone. Sometimes their tongue sticks out, again, because of low muscle tone (remember, the tongue is a muscle.) This contributes to the juiciest, most delicious kisses!
• Teeth- For babies, teeth may come in late, and in random order. They tend to be small, and sometimes unusually shaped.
• Ears- They tend to be small, and lay lower on the head. One thing is for sure, Nichole will be the first Stumbo not to have a "big ear" complex.

Edited to say: No, I am not suggesting that All Stumbos have big ears. There are a few that have shared with me how they always thought when called "Dumbo" it was because of their big ears, rather than a silly rhyme. In our immediate family, the big ears do apply to ALL members, including me :)

• Stature- Individuals with Down syndrome tend to be smaller. Remember, the best gifts come in small packages!
  
• Hands and Feet- Smaller, and fingers and toes tend to be shorter (and chubby!). The palm of the hand may have only one crease, called the simian crease. The feet sometimes have a gap between the first and second toes with a deep crease on the sole where the gap is. These are the sweetest hands that will ever touch your face, and the perfect feet for flip-flops!

Babies and individuals with Down syndrome may resemble one another because of similar features, BUT, they resemble their families more than they resemble one another. Remember, 46 of their chromosomes are perfectly normal, and ALL their chromosomes came from their mom and dad.

I will be very honest, but one of the hard comments that a parent can hear (at least for me) is when Nichole is compared to another child with Down syndrome. "She looks just like such!," or "She looks just like my niece when she was a baby, she has Down syndrome too!" I am aware that my Nichole looks like she has Down syndrome, because, she does! Yes, there are certain facial features that are similar, in a way that you would conclude that all white people look the same, all Hispanics look the same, all Asian people look the same, all black people look the same, or all Arab people look the same. There are specific characteristics that make people groups look similar, but we would all agree, that each individual has it's own unique characteristics that sets them apart from anyone else regardless of their race. It is the same with my daughter and all the beautiful children with Down syndrome.

Nichole does have almond shaped eyes, like most people with down syndrome, and she has a button nose. Her eyes are blue, like her daddy and sister, her nose is like Ellie's, just with a small bridge, her mouth is like her mommy's and so are her ears. As a matter of fact, Nichole looks a lot like Ellie did as a baby. Even now, Ellie cannot tell the difference between her baby pictures or Nichole's. The only way to tell sometimes, is looking at the eyes.

All individuals with Down syndrome are unique and special. They were carefully crafted by God. We are all God's work of art, individually and fearfully created. God's works are wonderful! I know that full well.

For more on this subject and pictures, please click here.

Focus on the Family: Coach Stallings

Coach Stallings was a football coach in Alabama. Throughout his career, he had a faithful and dedicated helper whom coach Stalling loved. This young man was Johny. Johny had Down syndrome; and Johny was his beloved son.

Dr. Dobson interviewed coach Stalling after the recent death of Johny. It was a moving interview, and one that will touch you. If you easily cry...have tissues on hand!

Here is a direct link to the broadcast

http://www.focusonthefamily.com/popups/media_player.aspx?LatestDaily=1

Hope you enjoy!

On Mosaic Down syndrome

One of the beauties of the world of Down syndrome is the friendships that are formed. I have mentioned before that the bond that we have as parents is very unique and very special. Strangers soon become friends.
Just a few days ago I met a new friend, her name is Kristy. She knows so much more about Mosaic Down syndrome than I will ever know! I asked her if I could "use" some of her knowledge and share it here since after my first post, there were a few questions about Mosaic Down syndrome.

Here is what she had to say:
(MDS stands for Mosaic Down syndrome; Ds stands for Down syndrome)

"The majority of people with MDS do experience all the same developmental and cognitive delays as a person with Ds. The only difference is, they sometimes reach a milestone (like crawling and walking) a few months before a child with Ds.

The exception to this rule is that children with MDS are more delayed in speech than their peers with Ds. And, we are finding a large majority of them with Apraxia. (a speech condition where the child began talking and then stops and uses no words or very few)

Also, because people with MDS have a percentage of Trisomy 21 cells in their body, they have the exact same risk for all the same health conditions as a person with Ds.

And, as you said, many do not have the physical characteristics as one with Ds, or those characteristics are just not as prominent.

Also, research suggests that up to 4% of those with Ds have MDS. In actuality, this number is much higher. There are many who are misdiagnosed with T21 who actually have MDS. In a recent independent study done by International Mosaic Down Syndrome Association 75 families were asked how they received their diagnosis. Of those 75--15% were first diagnosed with Trisomy 21 Down syndrome. This misdiagnosis and those who go undiagnosed would bring the number much higher than the outdated research states.

I hope this has helped some to explain about mosaic Down syndrome.

I am the mother of a 22 yr son with MDS....
The president and co-founder of International Mosaic Down Syndrome Association....www.imdsa.org
And, I write a daily blog on mosaic Down syndrome and Down syndrome called Mosaic Moments. www.mosaicmoments.today.com

Oh yeah.... One more "tidbit"...
There are actually FOUR different kinds of Down syndrome...

Trisomy 21
Translocation
Mosaic
Mosaic Translocation

http://www.imdsa.org/Information/mdsfacts.htm "


Thanks so much Kristy!

And if any of you have any more questions, I am sure Kristy would love to have you stop by her web-sites. Her blog is wonderful! She has so much information and lots of touching personal stories of different families, including her own.

Statistics on Down syndrome

Before talking statistics, I want to share some pictures of Nichole with your from Wednesday. We went to a Pumpkin Patch and tried to stay warm.

By the end of the day, Nichole was exhausted and read for a car ride so she could snooze.
Here she is in the stroller, tired, and pretty bundled up.

And here is Ellie. She had fun with her friend Brooklyn.

She did not want to bring a pumpkin home though.

Statistics on Down syndrome

A few people asked about statistics, so I will try to answer as best as I can. I actually spent some time yesterday looking at books and different websites. I am hoping that some of my friends (those dear friends that I have met thanks to Nichole) will read this post and maybe add some of their comments with the information that they have. Remember that these are estimated numbers, there are no statistics that are 100% accurate because of abortion rates. Also, these are numbers for the United States (I will see if I can find anything about Mexico.)

• 1/733 babies are born with Down syndrome
• 5, 000 babies are born every year with Down syndrome
• 9/10 women that are given a pre-natal diagnosis of Down syndrome chose to have an abortion! (This is a problem. Medical professionals deliver the news as a death sentence and almost always offer the option of abortion before explaining to parents what it is, or before connecting the expecting parents with a family that has a child with Down syndrome. It is sad to know these expecting parents are being cheated of a precious baby by withholding the truth and information about what Down syndrome is day-to-day. can you tell I am passionate about this!)
• It is believed that if there was no abortion at all, the incidence of having a child would be somewhere between 1/150 or 1/100, which is the same as having twins. (By no abortion I mean, not only related to Down syndrome, but abortion in general)
• Most babies with Down syndrome are born to parents that were NOT given a pre-natal diagnosis
• 80% of babies with Down syndrome are born to women under the age of 35
• Currently there are more than 400,000 people living in the US with Down syndrome
• More than 50% of all miscarriages are caused by a genetic abnormality (I wonder how many of those were little babies with Down syndrome!)
• Once a woman has a baby with Down syndrome, her chances of having another child with Down syndrome is... 1% (yes, only one percent, the same as having twins, unless it is Translocation Down syndrome)

If you are looking specifically for statistics on Down syndrome and abortion, you want to read THIS POST.

Nichole's First Birthday! October 2nd

Today is Nichole's First Birthday!

Time goes by so fast, but for once, I am not wondering where my baby went. She is still my baby, and I have enjoyed her tremendously. Most parents get to hold their babies for a little while before their children are eager to be on their own, move around, and away from their parents. I get to hold my baby a little bit longer and enjoy her soft skin and little hands close to my face. She is a joy and a real blessing.
I believe she already knows that she is deeply loved by her family, and those friends that have now become her family as well.

Here is Nichole playing her drum and singing.

I have read birthday stories from other moms that have children with Down syndrome. I never understood why some of them described birthdays as hard, but now I know.
A year ago, Nichole joined our family and she brought with her a diagnosis. A diagnosis that would shake our world, at least my world, to pieces.
I had dreams and hopes for a beautiful, healthy baby girl, and in an instant, that all seemed to be taken away from me.
A year ago, I faced the ugliest, darkest, most shameful parts of my heart. Parts that not only am I ashamed of, but parts that surprised me. I never knew that there was in me such hardness. My heart was an evil place, with little of God's love.
A year ago, I held a baby that I wished was not mine.
But God...He knew exactly what He was doing. And through all my tears I was confronted with the fact that I was "selfishness" in a pure, and raw form.
Psalm 139:23 says, "Search me, O God, and know my heart: test me, and know my anxious thoughts. See if there is any offensive way in me, and lead me in the way everlasting."
This was my prayer, my all time prayer, and I meant it when I offered myself to God. So here I was, being tested, with God searching my heart, and with Him choosing a little baby with Down syndrome, to lead me in the way everlasting.
Yesterday I was helping Ellie memorize Psalm 51:10, it says, "Create in me a clean heart, O God, and renew a right spirit within me." My spirit has been renewed and continues to be renewed because of Nichole.
I praise God because He did not allow me to stay in the muck of my depression for long. I praise God because even though my heart was dark, His love was abundant. I praise God because I know He forgave the depth of my darkness. I praise God because He showed me unconditional love. I praise God because He took me by the hand, and showed me the truth about His beautiful gift, His precious miracle, His princess...Nichole.
The value of her life is immeasurable. The lessons she has taught me, are countless. She is just a baby, but she is full of love, peace, gentleness, goodness. She is in the business of changing hearts, and transforming lives.
I am not the same person I was a year ago. When I look into Nichole's almond shaped eyes, my heart is touched by love itself, maybe by God.
Nichole is one year old today. I am so proud of her. She is a beautiful and healthy baby girl.
She is the baby that I always wanted, I just did not know it. She certainly is the baby that I needed, because I needed much changing, because my heart needed to be fixed. She is God's own hands in my life, and I am humbled.
Happy Birthday Nichole. You are a precious gift to all of those who know you. You are transforming hearts as you show us what love looks like. You are an angel, a little angel that I get to hold.

These are some pictures form the day Nichole was born.

What is Down syndrome?

Down syndrome is the most common (but rare) genetic condition in which an individual has an extra copy of the 21st chromosome. A typical person has 46 chromosomes. People with Down syndrome have 47.

How does it happen? Here it comes, Biology 101 on Down syndrome.
All cells reproduce, either by mitosis, or meiosis.
Mitosis basically means the cell copies all of its contents (including it's 46 chromosomes) and then divides to produce 2 daughter cells.
Meiosis is the process in which reproductive cells divide. The egg and the sperm do not copy themselves, instead, they "split" in half, resulting in an egg having 23 chromosomes, and sperm having 23 chromosomes, to make a total of 46 when they come together.
In the case of Down syndrome, the 21st chromosome (typically in the egg) fails to "split," resulting in Trisomy 21 (three 21 chromosomes) when it is united with the sperm.

What causes Down syndrome? Why does an egg fail to disjunction on the 21st chromosome?
We don't know. There are only speculations. It is believed that maternal age is a factor (since women have ALL their eggs present even BEFORE they are born, and therefore, the older the women, the older the eggs).
I was 25 years old when I conceived Nichole. At that point, according to science, my chances were 1/2500.
Now, the following is MY OPINION. Please do not take it at face value.
I believe that the reason they think maternal age is a factor is because women 35 years and older have all the pre-natal tests done. Women 35 and younger, many many times chose not to have these tests. It makes sense that you will see ANY condition more often in a population that is routinely getting tested, as opposed to the population that selectively chooses to do so.
Eighty percent of babies with Down syndrome are born to women 35 and younger!

There are three different "types" of Down syndrome.
1) Non-disjunction Trisomy 21. The most common. 92% of people with Down syndrome have this type. It is basic meiosis where the 21st chromosome did not disjunction. (As I explained before)
2) Translocation Down syndrome. This is where one of the 21st chromosomes (either from sperm, or cell) is "broken." When it gets "broken" it "splits" in two, therefore, resulting in an extra 21st chromosome. This condition is believed to be hereditary. It is believed that 6% of individuals with Down syndrome have Translocation Ds.
3) Mosaic Down syndrome. Both the cell and the sperm are "typical." The non-disjunction occurs somewhere down the line of cell division resulting in an individual that has some "normal" cells, and some "Trisomy" cells. It does not matter how many "normal" cells there are, what matters is where those normal cells would be. For example, if the cells that form the eyes are not affected, an individual would sadly not display the beautiful almond shaped eyes characteristic of Down syndrome. Only 2% of individuals with Down syndrome have Mosaic Ds.
Some people believe this might also be hereditary. There is little to no difference in development of individuals with Mosaic Down syndrome as opposed to the other two types, UNLESS, it happened at the LAST STAGES of cell division. In some cases it is even possible for a person to have Mosaic Down syndrome and not know it.

What does Nichole have? Plain Non-disjunction Trisomy 21.

Are there different "levels" of Down syndrome? Or is there such a thing as a "low case" or "severe" case?
No, Down syndrome is Down syndrome. Development is directly linked to health issues.
Nichole would be considered "high functioning" (I know, she is a baby!) but she has had no serious health problems. Other babies that have serious health problems have a harder time "catching up."

Can doctors predict how well Nichole will do?
No. Nobody can. Nichole is Nichole. Most often doctors and other professionals talk about things that babies or individuals with Down syndrome can or cannot do. But, nobody can tell me what Nichole can or cannot do, she will show us what she is capable of, and she is doing amazing! She is her own person, and she will develop in her own rate, at her own time.

Is there any way to prevent Down syndrome?
Yes, there is a way that will guarantee that you will never have a child with Down syndrome. Do not have children :) Other than that, there is nothing that you can do or not do to prevent Down syndrome, or to cause Down syndrome for that matter. It is a God thing, it is a gift, and very few are fortunate and blessed to know this beautiful and amazing road.
God chose only a few of us to have these precious babies with a little extra something :) Even though I like to think it is because we are "special," I know for me it is because I needed much changing. It is a heart and life altering miracle. I am humbled and honored God chose me to be Nichole's mom.

Is Down syndrome a burden? ABSOLUTELY NOT! It is the greatest blessing our family has ever known. And Nichole continues to touch lives and hearts of those around her. There is nothing "less than perfect" about that.

Psalm 139
For you created my inmost being,
you knit me together in my mother's womb,
I praise you because I am fearfully and wonderfully made
your works are wonderful,
I know that full well

God does not make mistakes, especially, when there is an extra 21st chromosome :)

October is...National Down syndrome Awareness Month

And you can help me!

What can you do? Well, this is what I would like you to do...

I would like you to actually add a comment. Now, I am well aware that maybe NOBODY ever reads our blog, but I like to think at least there are a few.

What should I comment about?

I would like you to ask anything you want about Down syndrome.
What is it?
Is it contagious?
What causes it?
What is life like...
What has been...
Did you think...
I have wondered if...
Would you ever...
Does Nichole...
I feel like...

You get the idea.

Now, please, please, please know that there are no stupid questions or comments, because chances are, if you are thinking that, someone else might too. It is Down syndrome awareness month, so what a better time to ask or share something about these wonderful works of art (aka, people with Down syndrome)

If there is something posted that has already been asked that you were wondering too, or something that has already been shared. Please ask again, and share again, that way I have a better idea of what people are really thinking (and I will know who reads our blog hehehe.)

God has entrusted us with Nichole's life, and I want to share with everyone the blessing that she is. I am aware that there are many misconceptions out there (I use to have many of those) and I love being able to share with others the truths that we have discovered as we travel down this road.

Thanks for your comments, and keep 'em coming!