Eeyore being a zebra

Down Syndrome Awareness: Can People With Down Syndrome Have Babies?: Answering Your Questions

With an extra chromosome, can people with Down syndrome have babies? Will those babies also have an extra chromosome?

Great question! In the past, it was believed that males with Down syndrome were unable to have babies. Basically they believed them to be infertile. But let's be realistic, people with Down syndrome have only been "allowed" to date an marry as of recently. I say "allowed" because somehow we took away their right to love and be loved in claims that their intellectual IQ made them unfit to marry, yet, what they know to do best is love.

Now a days, individuals with Down syndrome are dating and getting married. Some of them are even having babies. However, the choice of having babies continues to be controversial, and a hard choice to make, as it usually involves family beyond the couple. Many couples choose not to become parents because they are unsure they are able to parent a child without help.

But the questions is, can they have babies? And will their babies have Down syndrome too?

In order to understand what happens when sperm and egg of people with Down syndrome unite, we need to look at the basics of cell reproduction.

There are two ways in which cells reproduce: meiosis and mitosis.

Mitosis: This is how all cells (except sperm and egg) reproduce themselves.
"A process of asexual reproduction in which the cell divides in two producing a replica, with an equal number of chromosomes in haploid cell."

Meiosis: This is how sperm and cell reproduce.
"A type of cellular reproduction in which the number of chromosomes are reduced by half through the separation of homologous chromosomes in a diploid cell."

We all have 46 chromosomes, therefore, egg and sperm have 23 chromosomes each. When they unite, you get 46 all together (23+23=46)

People with Down syndrome have 47 chromosomes (an extra 21st). Now picture the 47 chromosomes reduced, or divided in half. You get one "half" with 23 chromosomes (or a typical cell) and one with 24 (with the extra 21st chromosome)

The grid bellow, shows you what the chances are for two people with Down syndrome to have babies (assuming that both individuals are fertile and able to procreate).

As you can see, for 2 people with Down syndrome having babies, the chances are as follows:
-25% chance their child will be typical (no Down syndrome)
-50% chance their baby will have Down syndrome
-25% chance there will be no viable pregnancy

Although Down syndrome awareness month is done, if you have any more questions...ask away!

Halloween Eve and all before that.

We have been so, so lucky to have had the perfect fall, almost Indian Summer, weather. The kids and I have been in and out of the house playing and running errands, trying to get as much outside time in as possible. The evenings have been cool but not freezing- perfect for our neighborhood S'Mores gathering last night!

 Joseph has his class party on Tuesday. It seems that the 80's have returned. In addition to TWO TMNT (my son included), there was a Ghostbuster! I remember being so scared of those movies when they first came out and now I bet my kids would just laugh at the special effects. I was unable to stay for the party and I felt bad about that. I always come for his parties but Georgie had speech. My mom was in town so she stayed and I took the babies home. It turned out well, since I got to really focus on Georgie, the therapist and tips and tricks.

There was school Wends but conferences after. Joseph had his on Thursday and I had to drag all four kids with me. It went okay, though. The report from his teacher was pretty good. He had 3 bad days but we think we got to the bottom of one of them. She said overall he is a good kid, very compassionate and his academic skills are just taking off! His reading has imporved 100 per cent since the beginning of the year. I love him reading to me! A whole new and wonderful world has been opened to him and I hope I never, ever get tired of listening to a new reader read!

Friday was Camille's party. Because preschool is in the middle of nap time AND the public school had off, I hired a baby sitter! I was going to take Cole but he porked himself out on baby food, nursed and fell asleep, so I left him too. I was able to watch the parade and them leave for an hour. I was DIZZY with option, let me tell you! I opted to go to the library for an hour. I picked up a couple new cookbooks and some stories to read with the older kids. It was nice to wander around and browse without my kids going cra-zy.

I went back for her little party. It was pretty sweet and I loved being able to focus on her and her class. She gets the short end of the stick. I wasn't able to be up much last year so I am glad I got to go to her class party now. They played bingo with candy corn, had cookies and juice and apples. I thought the organic apple slices in a bag were a great idea. They didn't turn brown and soft like home-sliced apples might and were nice and healthy. Their craft was a simple coloring sheet- pretty awesome.

Again, the 80's were back. There was a VINTAGE Strawberry Shortcake. I was impressed and pretty excited. Camille is getting into SS and it's been fun to watch with her. Pound Puppies is on now too; Joseph likes those.

The kids and I realized we have NO Halloween decorations. I'm not a "decorate the house for every blessed holiday" type person but I do love pumpkins and fall! This is the first year they are REALLY into it, so I told them we would buy some items when they went on sale this year. Cami, Mom and I found a sparkly purple sign for the front garden that says, "beware." Mom made a cute wooden "Candy Given Here" plaque for the front door. I know somewhere we have a table cloth and I found some napkins I had squirreled away. We found light-up pumpkins at Target (along with a Thomas costume-score!) that I told the kids we would buy this week- and some plates that I got. Cute pumpkin plates! For dinner tomorrow I think I am going to make "mummy hot dogs" (hot dogs wrapped in cresant rolls, like pigs in a blanket) with "blood and pus" (ketchup and mustard) to dip and maybe some pumpkin muffins.

Cole trying to escape his photo shoot!

Can't wait to post my Ninja turtle, butterfly/fairy/ballerina/princess, Thomas train and skeleton tomorrow!

Mission accomplished

Ellors Madak (right) has been found, and is being held, at a nearby Book City where Ben left him a couple of weeks ago. Ellors -- who teaches anyone who will pay him how to fly spaceships -- is one of Ben's beloved Star Wars characters. Ben has a habit of leaving characters in places where I can only imagine they undertake special missions. Ben has been going into amazon.com and pulling up Ellors every night to remind me that he's missing. So imagine our surprise when I called Book City last night and they confirmed that Ellors was being held at the cash and we could pick him up today. Hopefully he's no worse for the wear!

We learned today that BLOOM won bronze in the 2010 Digital Magazine Awards in the health and beauty category (not sure why they are paired together!). Our brilliant designer Sara Purves had put in an entry which was a fabulous surprise to me.

Flame is a band from upstate New York made up of people with a variety of physical and developmental disabilities. Check them out.

And finally, next Friday I'll be in Ottawa at a national roundtable on the health of parents of children with disabilities. As part of this roundtable, I'm filling out a survey on Oct. 28 (tomorrow!). I'd love your input on the following two questions:

1. What are the most important caregiver-related issues that need to be the subject of future research?

2. What needs to happen to support families of children with disabilities more effectively?

Remember, this is in relation to the health of parents! Please send me your thoughts!

As seen on...

My story about nursing Cole during CCD was published on the Nursing Freedom website. The comments on the web page and on their Facebook page have recieved some excellant feedback. I will blog more about it later, promise!

Go check out the new web site devoted to natural parenting, The Natural Parents Network, and check out their blog for a familiar face!

Cider Mill

Last week, I took Cami, Georgie and Cole to the Cider Mill with my MOPS group. It was very quiet and we were able to wander around, look at the apple cide being made and eat hot, fresh donuts.

CHEESY GRIN! Georgie and his donut!


Cole was more interested in the straw than having his photo taken. It is so hard to get good pictures of this kid!


3/4 of the herd

This so needs a caption


Caption away... winning gets... um, credit! Yeah. No prizes except the joy of knowing you can come up with a caption where I cannot.

Internet Out

It seems like my computer at home is having some problems. All of a sudden it is not connecting to the Internet.
At first, I must admit that I was a little frustrated, but now I am thinking maybe God wants a little more of my attention, and "suspending" the plug might be a good thing for me.
During Lent, I took a "break" I limited my on-line activities, realizing that it is sort of an addiction in my life. I am thinking that maybe now I can have some time to do the things I need to do and actually want to do!
I can get working on my book proposals, actually write some more, and clean my house!
I still have a couple of questions to answer for Down syndrome awareness, and as I am able to come to the Library (like today) I will answer those.
Yesterday Nina and I went to Mayo for a Cerebral palsy Clinic Day and I will update as soon as I can. I just have to say that it was a very long day, but I learned so much about Nina, CP, and therapy. There is much to share about our girl.
See you in a few days!

Interactive Alphabet - ABC Flash Cards



Educational methods and teaching strategies can sometimes
be a challenge when you have a child who has Agenesis of
the Corpus Callosum.

I am always on the search for new ways to help my child,
Matthew, who is completely missing his corpus callosum,
learn through methods that speak directly to his style of
learning.

Flashcards, for Matthew, are not an option.

But give him "Flash Cards" that he can see, hear and interact
with and now you speak
his learning language.



You can actually play the Xylophone and hear the musical
sounds by touching each key. My child loves this one and
so do I. Last night I played "twinkle twinkle little star"
on it. Slide your finger from one end of the keys back
to the other end, like Matthew just learned to do, and see
what happens.

Interactive Alphabet - ABC Flash Cards is a new educational
iTunes "app" that is awesome!!

It is a hands-on experience that allows a child to interact
with each letter of the alphabet in a multi-sensory way.

Touch the "Aa" and hear it SAY "A".
Touch the "Aa" again and hear the letter sound.

Touch the word associated with the letter and
HEAR THE WORD out loud...as many times as a child
wants and/or needs to hear the word.

Repetition, Repetition, Repetition, a very common motto
associated with many people who have Agenesis of the
Corpus Callosum.

Touch the picture associated with each word and bring
the word to life right before your eyes, ears and
your fingers. Then watch those fingers want to keep
touching, playing, exploring and learning.

Watch a demo video clip below:



Tt is for TRAIN is a favorite of ours. Touch the train
and it starts moving on the tracks..."chugga chugga chugga".

One improvement I would like to see is that when we use
Interactive Alphabet on the iPod Touch, the tiny before and
after letter choices and the main "ABC" choice located at
the top of the screen do not always stand out well
enough to easily see them on every letter page.

Matthew has some challenges with fine motor control and
he requires some hand-over-hand help to show him what to
touch and when to slide his fingers to make something happen.

Sometimes he moves his finger near the top of the screen
while interacting with the corresponding letter picture and
he accidentally touches the "ABC" main key without
meaning to which abruptly moves him off the screen he
was playing on and sends him back to the main A to Z
letter choice screen. But overall he is doing well using
Interactive Alphabet on his iPod Touch with his iMainGo
2 speaker case
.

I am extremely impressed with this Interactive Alphabet
app, so much so that the first night I purchased the "app" I
found myself acting like a kid eagerly touching letters and
playing.



I zipped the ZIPPER up and down and up and down, hearing
the zip zip zipping sound each time, then touched the
TRAIN, with Matthew, and watched and heard it chugga
chugga along the tracks with an added interactive
"woo woo" from my child, Matthew.

On Sunday my child and I played with Interactive Alphabet
together and we loved every ABC minute of it. We shared
our own imaginative interactive fun on top of the built-in
action that is part of the game. For example, the
"Rr is for ROBOT" page became even more fun when I turned
into Mommy Robot and said:

*in robot voice*

"Math-You touch the word ROBOT".
"I am Mom-Me Row-Bot, You are Math-You Row-Bot.
We are Row-Bots".
"R" "rrrr" "rrrr" Rowwwwww-Bot"

He signed the word "more" several times to keep Mommy
Robot activated and he also touched the word "ROBOT"
when I would ask him in a robot voice to find the word!!
It was an amazingly fun time!!

Another one of his favorite letters to interact with is
"Dd for Dinosaur". He imitated the noise the dinosaur
makes and did this over and over.

After a little hand-over-hand help from me, Matthew
mastered the "Zz is for ZIPPER" and was zipping it
up and down.....Zippity, Ziiiiiip, ZIP!

It's wonderful watching my child interact with a
motivational teaching tool that is helping him learn.

Interactive Alphabet by Piikea Street is fantastic FUN!!

Choose the option of having 1 of 3 different musical tunes
playing in the background during the interactive fun or
choose no music at all.

This "app" is one that I know we will be using a lot and
I can envision using it with my child in a variety of
educational ways to help him learn to find letters of the
alphabet and words too. I anticipate it might even help
and encourage him to improve his fine motor skills.





$2.99
Buy Now in iTunes App Store

Want to read more reviews here about educational "apps"
for the iPhone, iPod and iPad that we discover, like
and use?

What are your child's favorite learning "apps"?


Pete the Purple Pumpkin-A Sibling Perspective

Pete the Purple Pumpkin

By EmmaLee McDonald


(Dedicated to EmmaLee's little brother Toby, who has Down syndrome)


There once was this purple pumpkin named Pete. Unlike any other pumpkin, Pete was purple. Every fall he hoped he would get picked. But every fall he didn’t get picked, he wondered why. He thought, “Sure I might be purple, but you can still carve me and eat my seeds.” The only thing different was his outside. People would look at him and then laugh. Every pumpkin thought that Pete was the kindest, sweetest pumpkin ever! They also wondered why Pete wasn’t getting picked. Now, Pete was getting older and the farmers said that if Pete didn’t get picked this fall, he would have to be thrown away. Pete didn’t want this to happen, so he hoped this fall would be different. Two days went passed and people only looked at him and laughed. Then, the next day, a little girl with a pink tutu and a tiara looked at Pete and said “I want this one.” Pete was so overjoyed. This girl loved Pete the most. Once this girl carved him, she placed him on her porch. That evening, she saw all of the neighbors on her lawn. Hoping they weren’t making fun of Pete, she ran out. Then, she realized what they were all staring at. It was a light brighter than any she had ever seen, shining from within Pete, without even one candle. It was a light that shown from within. Then, people came from far and wide to see this bright, little pumpkin. Just imagine what the world would have missed if Pete were simply thrown away. Even though people may look different on the outside, true beauty comes from within.


EmmaLee is twelve years old. Amazing, huh?

Leave EmmaLee a comment telling her how much you love Pete the Purple Pumpkin!

Thanks Gillian for sharing this on your blog.

And don't miss the previous post from the day with pictures of my little girls' creations.

Color and Paint

A few months ago, as we were getting ready to begin our journey with homeschooling, I bought the book, "The Great Big Art Activity Book." Ellie loves to draw, color, paint, and craft away. Homeschooling, for Ellie, needs to have enough creative fun.

I love this book! It has different sections for drawing, painting, world art, sculpturing, and printing. I am able to pick and choose projects that I know Ellie will enjoy and that will help her be creative and practice some skills.

Today, we had our first official Art lesson, and Nina decided to join in the fun. Nichole was not interested, so she hung out with her daddy.


We looked at all the different ways to create texture when we color. We did crosshatching, curved lines, short lines (for fur or feathers), dotting, smudging with oil pastels (our favorite!) and even turned a scribble into something creative!

Ellie did a great job and her creations ended up being pretty sweet!
We then painted a color wheel. We started with primary colors and then we mixed our very own orange, green, and purple. Ellie really enjoyed this activity, and found the "perfect" color combinations.
Nina of course, wanted to participate. She has a very hard time with coloring and drawing. Tracing is hard! But, she has come a long way since she got home. She had never held a crayon before, and now she tries hard to color and be precise with her pencil strokes. Although I helped her a lot for this creation, you can see that she is getting it, little by little.
Nina's color wheel was phenomenal! She loves to paint, and she had never tried to stay within lines. I know she gets to practice at preschool, but I was so proud of her! She needed help mixing the colors, but she did all the painting, all by herself! No help from mommy!

The Power of Words


I learned English as a second language. When I moved to the United States at age 17, I felt confident living life in "English." However, my scholarly English did not know much about slang words, puns, or the fact that the English language is ever changing. Some words, over time, change their meaning.

One word that has changed in meaning over time, is the R-word (retarded.)

Back in February, when there was controversy going on with this word, I wrote a post about how our family feels about this word.


Some have said we have pushed the limit in what is “politically correct.” But is it? Is it wrong or offensive to use the r-word? Is it really a damaging word?

I want to tell you about our family. I hope after you read this, that you will understand the power of words, and that some words, even when not intended to be harmful, can slowly destroy.

When my daughter Nichole was born, her diagnosis of Down syndrome hung over me like a heavy, wet, blanket. It clung to me. It robbed me from any feelings of love and I wondered if there was a way out. My motherly instinct was nowhere to be found. I went through the motions of holding and nursing (pumping actually) because I had to, not because I wanted to. I cried. I cried several times a day. There was fear in the unknown; there were questions about the future, about our family and my oldest daughter.

Down syndrome. I knew many things about Down syndrome, and I knew of one word that would be used to describe my daughter. It was the R-word. Retarded.

I knew that someday, someone at her school might say to her, “Hey you retard!” With many laughs to follow such a comment. Or we might hear someone explaining her behaviors to another by saying, “She is retarded.”

There was something I knew about the word retard or retarded. It is a word used to describe something or someone that is stupid, ridiculous, or inadequate. It is a word used to make fun of others, to point out their flaws, or to put them down. It is a word used to destroy, to tear down. Was this really a word that would describe my daughter? Was it okay to call her that in claims of it being a "medical" term or condition?

Thankfully, it did not take long for me to discover that my daughter was not what the word "retarded" means. My daughter was and is beautiful. She is not stupid, she is not ridiculous, and she is not inadequate. She has taught me more in her lifetime than I had learned in mine. She has been the greatest teacher I have had. She has inspired me more than anyone else I know. She has changed my life, the lives of our family, and of those that have gotten to know her.

My daughter has the ability to touch hearts and change lives. A quality that cannot be said of all people. She has shown me more love, joy, kindness, gentleness than I had ever known before. Indeed, her life has great meaning, great value, and she has so much more to offer.

And yet, the word “retard” continues to hang over us. Why? Because it is a word that continues to be used in a derogatory way. It hurts. It hurts our family. We fight this word, every day, every single day. We fight this word because everywhere we go, her characteristic features of Down syndrome set her apart. The stereotype that the word “retard” has perpetuated is engrained in our society, and so we fight against it, because she is so much more. She is full of potential, love, and joy.

There are obvious ways in which the r-word is offensive. But when it damages us the most is when it is said in ignorance. The facebook status or the teasing of a friend. It is not meant to be offensive, it is not meant to hurt. But even if it is not said with ill intent, it does. It hurts, it destroys.

My daughter is not stupid, ridiculous or inadequate. A word that has been used to mock people with intellectual disabilities makes othesr like my daughter wake up and face a world that has deemed her unworthy and incapable. Incapable because of a word. A word that is not who she is. She is capable, she has gifts, she has talents.

So next time you hear the R-word, next time if you think you might be about to say the R-word. Please stop and think. Think about my daughter, think about others that like her stand strong against the tide of a word that has labeled them in such a negative way, yet they have so much potential. As her family we stand with her, we stand strong, we fight.

Will you stand with us?


Usually, when someone uses the R-word, I take the time to share with people about our family, and what it means to us to hear people using it in such a way. Most do not know how hurtful it is. Some, do not know how to respond, but understand. And just a few, will dare defend themselves claiming that "educated people" use this word, because it is a medical term and some people act in ways similar to those with intellectual disabilities.

I am an educated person. I have a degree in Psychology. Most important, I am involved in the world of special needs. Every. Single. Day.

So allow me to share with you some recent news. A new law has passed where the term mental retardation will no longer be used in the medical or professional community. It has been removed, as the word has evolved and is now used in a derogatory way. The preferred terminology is now "intellectual disability."

You can click here and read the law passed by Congress.

For now, I am thankful that no official documentation will ever have the R-word when referring to Nichole. She is not a retard, not to what this word has come to mean. She is not stupid, ridiculous, or inadequate. She is simply Nichole, a little girl, with many many gifts, talents, and abilities. Some of which, have changed my life.

Can't answer the wrong question

Last week at Bible study, I was sllloooowly leaving the building with Camille headed out the door, Cole dangling from my arm and Georgie 20 feet behind me. A young-ish preist was talking with someone I know and he asked if "all these kids"(meaning mine and a few other random chillin's) knew each other. I said yes, through Bible Study and indicated which ones were mine. He said, "I love large families. When I see a mother out with her children, especially if they are running around being children, I say, 'Thank you for being a Mom.'"

I love it. So much better than what I normally get which is, "Wow, you sure are busy!" as Miss Size 2 and in kitten heels clicks by me, never bothering to open the door for me and my double stroller... with a kid on my back. That? That is annoying.

I get asked, too, if we wanted four children. The complete answer is more complecated than a yes or no and to fully explain it you would have to know our faith, our journey as adults, my medical history and so much more. I could never do it justice so I just say yes, we want all our children. This is 100 per cent true.

Then there is the question, "Do you want more children?" And I hate this questions. Why? Because as Jen at Conversion Diary says, there is no right answer to the wrong question.

I can't say, "Not right now" when the kids are behaving badly because that indicates that they are being so awful, no one would want them. What message does that send?

I won't say, "I can't handle anymore" because, again, says something about them, about how children are such a handful their parents can reach a limit. While that is true and that I sometimes feel overwhelmed with all the work young children require, it won't always be like this. I know that this too shall pass and one crappy day or week doesn't mean more children shouldn't join our family.

I think sometimes saying, "I don't want anymore" can reject a potentail child you have waiting for you. I would hate HATE for any child of mine to one day find out that we didn't want another baby. I would hate for them to feel like we didn't want THEM because WE wanted to put our mortal limits on what God might have in store for our family.

Friends use the phrase, "open but not hopin'" to indicate that they are open to life but not hoping for another baby. It's funny... but bothers me in the same way as "I don't want anymore."

"Do you want more children?" is the wrong question. It's a question that should never be asked, except between spouses and medical professionals and patients. It should never be asked between family members, friends or strangers. The only input people should have about your family is that they will love and except any child you bring into this world.

And when people ask me? I know what my husband and I plan for our family. I know the here and now. I don't know the future. I don't know what God has in store. My response? "We will love and accept any child given to us" just like we have in the past.

From Mutterings and Mussings


This beautiful girl you see is Lucy. When Nichole was first born I found a wonderful forum for parents of children with Down syndrome. Lucy, and her mommy Courtney was a member of this forum, and since we both had babies, I really felt a connection with Courtney. I valued that they had journeyed with Down syndrome a little bit longer than we had and ever since then I have been following their family blog.

Just yesterday I got to read Lucy's birth story for the first time! I was surprised at how similar our stories were.


So I wanted to share their story with you, since it is down syndrome awareness month. Happy reading!


The Beginning


It really all started with a phone call in February, though I wouldn’t know that for another five months. The day after my 20 week ultrasound, the obstetrician’s office called to tell me that they thought they saw an echogenic foci on the baby’s heart. They told me this was a “soft sign” for Down syndrome. They asked me to come back in for a Level II ultrasound.

I remember being so scared. I couldn’t get an appointment for five days for the follow-up ultrasound. They were the longest days I had known to that point. I didn’t want to tell many people about this “complication”, but I was really struggling with pretending nothing was wrong. We were in the process of buying a house at that time, and had just put a bid in on a house I loved. Mark came into the room and I was crying. He thought it was because they had accepted someone else’s bid. I had never cared less about a house in my life.

My mom went with me to the ultrasound. “Everything looks perfect.” Sigh of tremendous relief. A few more months of blissful ignorance.

I felt my first contractions on Saturday, June 30…literally just moments after taking care of the final preparations for Lucy’s arrival. In the car after having the carseat inspected, I patted my tummy and said, “ok, Peanut, we’re ready for you now.” She listened.

The labor itself was horrendous. I didn’t know it at the time, but I was having back labor. This fooled me into believing that I was farther along than I really was. Sunday night I made Mark take me to the hospital, convinced this baby was coming any second. They sent me home at 1 cm. I felt foolish and vowed not to go back until I was sure she was on her way. The end result was that in a stubborn snit I waited far too long and my precious daughter was dangerously close to being born on my living room floor.

Mark was at work, so my sister took me to the hospital and stayed in the delivery room for the whole ordeal. I progressed from 5 cm to 9 cm in less than 25 minutes. No epidural. I was sure I was going to die. The consolation was that she came fast. I barely pushed. Mark barely made it in time. From the moment of checking into the hospital until the moment she was born…56 minutes.

They took her to the nursery immediately for observation. I was so disoriented that this did not alarm me. They said it was nothing to worry about, but they wanted to monitor her breathing. They came back quickly and said she was breathing fine, but her temperature was low so they were going to put her in the warmer for a bit. They took me to my room, but we stopped by the nursery so I could hold her for a few minutes. She was gorgeous. She looked like Mark’s Mom, brother, and aunt. I was smitten.

It wasn’t terribly long until they brought her in to the room. Maybe an hour? I was eating and don’t really remember. Life was still too surreal to be keeping track of time. We held her. Took pictures. Sometimes when looking back I feel like something was off, something that I couldn’t put my finger on. But sometimes I think it’s just hindsight.

A few hours after Lucy was born, maybe about 4 or so, I was in my room with Mark and his parents. The pediatrician came in to examine her. She was listening to her heart. For a long time. A really long time. My FIL, not one to beat around the bush, questioned the doc on the intensity of her exam. This pediatrician, whom I had never met before, looked at him and said, “well you know the baby has Down syndrome, right?” (I remember it slightly different. I thought she said, “we think the baby has Down syndrome”, but Mark and his parents agree on the original version so that’s what we’ll go with). Mark responded with “Excuse me?”, to which Dr. Bedside Manner replied with, “Are you the baby’s father?”. I am sure there is a lawsuit in there somewhere, but when it was relevant, I didn’t have any fight left in me. Needless to say, this woman is NOT my pediatrician.

“Well, you know the baby has Down syndrome, right?” No. I didn’t. I had always heard the expression “all the air left the room”. I had never felt it until that moment. It left the room. It left my lungs. It was as if someone had physically punched me in the gut. I was shocked. But given our scare way back in February, I wasn’t necessarily surprised. I wonder sometimes if that made it easier. That little non-warning.

The doctor then preceded to show us all the physical characteristics that lead them to the conclusion that Lucy had Ds. After she left, we preceded to explain them all away. Her almond shaped eyes, well, Mark’s family has almond shaped eyes. The small, low set ears, well, I have really tiny ears and I have always felt they were a little low. The slight curvature of her pinky, well, I have a good friend whose pinkies are slightly curved and she most certainly doesn’t have Down syndrome. We’ll wait for the karotype to come in, but we’re pretty sure they’re mistaken.

But, later that night, when everyone else was gone and it was just me and Lucy, I unswaddled her. I looked at her feet. I could not explain away that gap between her toes. And in my heart I knew, though I wouldn’t admit that I knew until the next day when her new cardiologist told me that she had a heart defect and would require open heart surgery within the first year of life. When he walked out, Mark and I both admitted we didn’t need to wait for the karotype any longer.

When she was two days old, we took her home. Knowing what I know now, about how many babies with Ds spend time in the NICU, I feel tremendously blessed. We took her home, relatively healthy, and began the long process of rebuilding our reality

Friendship

A couple of years ago, one of our MOPS mentors talked to our group about friendships.

There are friends for the road. These are the friends that come into our lives as we travel the different roads of life. These are friends that come and sometimes go, but dear friends as we share significant life stages or life happenings with.

And there are friends of the heart. The friends that are with us forever. Those friends that we have known for a long time, and that even when years have gone by, when we get together, our hearts are still connected.

Two weeks ago I traveled to Mexico for my grandmother's funeral. In my trip, I got to see a few of my friends of the heart. Friends that I have known for a long time, and friends that are so dear to me. Spending time with them makes me realize how much I miss them, and how I wish we could do life together, go out for a cup of coffee or for lunch.
My friend Yuri. We have known each other since we were in sixth grade. We were both moving to the same town and ended up in the same room at our middle school when we were taking our acceptance test. She sat in front of me and we really hit it off. The first day of school, in seventh grade, I ran to see the class list and was relieved that we had been placed in the same class. I waited for her by the door and as soon as she walked in I knew I was not alone.

What a dear friend she has been to me for seventeen years! (I know you are all doing the math, how old am I?)

We shared all the teenage drama, boyfriends, heartaches, family frustrations. We laughed and cried together, and her parents and little brother (now a handsome young man) were like family to me.

I got to see Yuri two times when I was in Mexico, and we talked and talked and talked. She is a beautiful woman and I love her dearly. Amazing how after years of not seeing each other, it did not matter at all. She is still, and will always be, one of my closest friends.

I met Rumi when I was 3 years old. A very long time ago. Our moms were friends, but every morning we greeted each other at school with a frown. Play dates rarely ended well. Then she moved to the US for a few years and came back in third grade. Although I was not a good friend at the beginning, by the end of the year we decided to like each other.

Anyone that knows me, knows Rumi. My friends from college know her, she came to visit. My friends from camp know her, she came and volunteered for a month. On my wedding, she stood by me. And even people from our church know her, as she went on a missions trip to Ensenada to a special needs orphanage to help translate. A life long friend.

Amazing that God, who created us to his image, created us to be relational beings, and He blesses us with friends that we can do life with.

Today, I am thankful for my friends of the heart.

For more on my thoughts on friendship, you can click here and read an article that was published by Christianity Today in MomSense magazine.

I'm Down With You

I am looking forward to this documentary! I have the book by my bedside and the pictures are beautiful!

This project was started not by a parent of someone with Down syndrome, a sibling, or a close friend. Jagatojoti Khalsa found beauty in an unexpected place, and he could not turn away. He was touched, and he has used his many talents and gifts (such as his book) to honor and share these wonderful individuals with an extra chromosome.

You can click here and take a look at his projects and amazing photos.

Down Syndrome Awareness: Answering Your Questions: On Physical Characteristics

I following your link to the information about single transverse palmar crease. I have this in my right hand.

A single transverse palmar crease appears in about 1 out of 30 individuals. So really, it is more common than you think! Sometimes, as it is the case with Down syndrome, fetal Alcohol, and other conditions, this can be one of several markers for such condition.

Medline Plus has some more information on the transverse palmar crease if you want to check it out.

What's interesting is that I know people who have maybe one of these characteristics that do not have Down syndrome.

Yes, many of the characteristic features of Down syndrome are found in people that do not have Down syndrome. Remember, that the characteristic of Ds are simply seen more often, but not exclusive of Down syndrome.

Nichole, for example, does not have a transverse palmar crease.

My ears, for example, sit a little lower on my head.

I know several people that have the transverse palmar crease and do not have Down syndrome.

I have a friend that has tiny little ears that bend slightly at the top and she does not have Down syndrome.

Some of my nieces have the tiniest bridges of the nose.

I have a niece with hypotonia.

Like I said before, these characteristics can be found in the global population, it is just that several of them seem to come together for individuals with Down syndrome.

Down Syndrome...Because Language Matters


When referring to someone that has Down syndrome, it is important to remember to use People First Language. It communicates that the person is more important than their diagnosis. It means that they are an individual outside of their diagnosis or genetic makeup. Nichole is not Down’s, she HAS Down syndrome. Down syndrome does not define who she is, and she is not the syndrome, she is just Nichole, she has Down syndrome, she has green eyes, and she has dark hair.

HERE you can find a guide of different ways to use people first language.

Here is what the National Down syndrome Society says about the preferred 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.

Physical Characteristics of Down Syndrome: Taking a Closer Look

It was 1866 when an English Physician named John Langdon Down first described the similarities of the condition that came to be known as Down syndrome (Down, named after him.) This happened before we had any insight into the genetic makeup of individuals, so it was not known that the presence of the extra 21st chromosome is what causes Down syndrome. At the time, an individual would be diagnosed by noticing certain characteristic physical features. Let's take a closer look at what some of these physical characteristics are.

Nichole has many of the characteristic facial features of Down syndrome.
Eyes: The eyes of an individual with Down syndrome might slant upwards a little bit and are almond shaped. They might have small folds of skin at the inner corners, which are called Epicanthal Folds.
The outer part of the iris might have light spots that are called Brushfield spots as shown in the picture bellow.
Nose: The bridge of the nose is smaller than usual, giving the impression of a button nose. This sometimes gives the appearance of a slightly broader nose.
Ears: The ears in individuals with Down syndrome can be smaller and the tops may slightly fold over. The ears set slightly lower on the head.
In the picture below, you will notice Nichole's smaller bridge of the nose (appears as if she did not have a bridge of the nose) and her small ears that do sit very slightly lower.


Neck: Some individuals with Down syndrome (and you can see in Nichole's previous picture to some extent) have a "thicker" neck, or what appears to be an excess of skin on the neck. This is one of the markers for Down syndrome that can be caught in an ultrasound.
Below is a picture of a stunning young lady where you can see her neck a little better.

Flat Profile: Individuals with Down syndrome tend to have a "flatter" profile. This is due in part to the small bridge of the nose, but also the forehead tends to be flatter.


Mouth: The mouth and tongue are made up of many muscles. Individuals with Down syndrome have low muscle tone, and therefore, the muscles in the mouth and tongue might be weaker. Contrary to what was believed before, the tongue is not bigger than normal. When the tongue is sticking out, it is a matter of low muscle tone and it can be worked on through oral exercises and speech therapy.
The muscles surrounding the mouth are also weaker and some individuals with Down syndrome, appear to have an upside down smile (a frown.) As you can see in Nichole's picture bellow, she seems to be sad, when in reality that is her "resting" pose.


Teeth: Teeth may come in late and in an unusual order. For example, Nichole got her bottom 2 teeth first, followed by a random order (her molars came in before her two top teeth.) For some individuals their teeth might be small, unusually shaped, or out of place.
Nichole, for example, has a tooth out of place, it sits way back behind the others. You can see that in the picture bellow, your left hand side between the front tooth and the canine tooth. (Forgive the messy face, it was the best picture I had of her teeth!)


Hands: Individuals with Down syndrome tend to have shorter and chubbier fingers. As you can see in the picture bellow, many individuals with Down syndrome have just one crease across their palm, called the transverse palmar crease. For some, like for Nichole and the baby from the picture bellow, the pinkie finger appears to be crooked.


Feet: There may be a gap between the big toe and the rest of the toes. There might also be a deep crease on the sole of the foot where the gap is.


You can see Nichole's toe gap in this picture. I absolutely love it! And it is great for flip flops!

Low Muscle Tone: One of the most significant characteristics of Down syndrome is low muscle tone (discussed briefly as we talked about the mouth and tongue) or Hypotonia. Low muscle tone affects all the muscles in the body. A baby may appear "floppy" as shown in the picture bellow. It affects movement, strength, speech, and development. It cannot be cured, however, there are many therapies available to help individuals with Down syndrome improve their muscle tone, such as Speech Therapy, Physical Therapy, and Occupational Therapy.


Hair: Some individuals have thin and straight hair. However, as you can see bellow, Nichole has a head full of beautiful curls.

Not all individuals with Down syndrome exhibit all of these characteristics. It is important to remember that individuals with Down syndrome resemble their families more than they resemble one another. After all, 46 of their chromosomes are perfectly normal.

Down Syndrome Awareness: Going to College

People with Down syndrome...going to College? Yes, as a matter of fact there are many colleges with programs that are targeted to individuals with Down syndrome and other intellectual disabilities.

Nichole is only 3 years old, it is hard to know what her abilities will be when she is 18 or 21. We do not know if she will obtain a High School Diploma or a High School Certificate. But what we do know, is that regardless of what she obtains, there are programs and places where she can go to College, and I want to share two of those with you, because they are my favorite options out there.

Shepherds College is the country's leading three-year post-secondary educational program for individuals with intellectual disabilities.

Just browsing their website gives me hope for Nichole's future. This is a real college experience, and there is adequate care and support for the students. Who said Nichole would live with us forever and never go to College, this is definitely a place where I would feel comfortable sending her to!

From their website:

That’s who we are. But what’s more important is who you are. What are your goals and dreams for the future? Shepherds College can help achieve and even expand those goals. We offer career skills, a smooth transition to Appropriate Independence and a lasting awareness of God and His plan for your life.


Think College is a phenomenal post-secondary program that focuses on transitioning students into a regular College Environment. Their website is a wealth of information where you can find colleges with programs in your area. I would highly recommend anyone to take a look at Think College!

From their website:

Doors to colleges are opening for people with intellectual and other developmental disabilities in many different ways all over the country. This website is designed to share what is currently going on, provide resources and strategies, let you know about training events, and give you ways to talk to others. The information is for transition aged students as well as adults attending or planning for college. It provides resources and tools for students, families, and professionals: click on the tabs above to see what’s here for you.

Lastly, I want to mention Pablo Pineda. He is a Spanish man with Down syndrome who has earned TWO College Degrees. Not special education degrees, but well earned with hard work and dedication. He is an inspiration to us of a life without limits! Pablo also speaks English :)

Cole's food

A few weeks ago, Cole was sitting on my lap while I was eating a Chik Fil A salad and grabbed my fork, trying to shove the lettuce in his mouth. I took the hint and started him on solids.

At six and a half months old, Cole eats:

*bresatmilk on demand for breakfast and lunch and in between
*one serving of "people food" with us for dinner. He is Very Serious about the whole endevor and is a full-face eater. His food end up in his eye lashes and all over his SHOES! He's had apples, squash, banana (which he doesn't like), sweet potatoes, corn and squash, veggie "casserole" and a few bites of a lentil dinner. He LOVED the lenitls. My father was throughly disgusted, as he ate alot of beans growing up and doesn't like them anymore.

Soon Cole is going to want food at every meal. I guess I should break out the hose and be prepared to bathe him every few hours...

Applesauce

ColeBear recently started solids. With Joseph, I made my own purees. With Camille, the child had one serving of mashed banana and then started feeding herself well cooked fruits and veggies. Georgie... ah, the Pordge wouldn't let any food from the grinder near his lips. He WANTED the pureed food, which is when I became a Beech Nut snob.

Cole? Yeah, the Bear gets the jars.

You can slam me all you want. I don't mind pureeing and grinding my own foods but I have so much on my plate now (ha.ha.ha) that I don't have time to throw anything into the baby food grinder. He gets the jarred food to eat and smear all over everything as he will.

But applesauce? That he gets from scratch.

We went apple picking the other week and came back with ALOT of apples. The kids and I set into making an apple crisp and apple sauce. I am lazy and my applesauce "recipe" is sinfully easy. Are you ready for this?

1. Cut up apples into somewhat similar sized pieces. No, I don't peel them. Yes, seriously.
2. Toss into a slow cooker or on the stove in a large pot. Add juuuuust enough water to cover the bottom of the pot so the apples don't stick. You can add more later if you want.
3. Add cinnamon and nutmeg to taste, if you wish.
4. cook until soft.
5. Puree in a blender until smooth.
6. Put into the container of your choice and freeze well.

Seriously. Yeah, the sauce is a little brown and not white like the store brought stuff but it is yummy, local, without added sugar and makes my house smell good. Plus, it looks good smeared all over my kid's face.

Take THAT Mott's!

My Three Year Old Has Down Syndrome

My three year old has Down syndrome. Most people that see her can tell right away. Some have known her for a long time and know that she is more alike other 3 year olds than she is different. To me, she is different than other 3 year olds in that she has changed my life and heart in more ways than anyone else has in my lifetime. In only three years, she has showed me what love, joy, peace, kindness, and gentleness really look like and feel like.

So I thought I would give you all a base-line of Nichole's abilities. But remember that all kids with Down syndrome are not the same.

  • She can say 2 and 3 word sentences that we understand (most of the time) We are sure she can say a lot more than that but there are just many times when we do not understand what she is saying. When we ask to repeat what she said, it sounds exactly the same and we still can only pick up the 3 words here and there of her story.
  • She knows shapes, like circle, triangle, square.
  • We are not sure if she can count, but she seems to try to count with us. This is also due to not understanding her speech very clearly.
  • Nichole knows some letter of the alphabet. Just the other day she surprised me by pointing and saying, "A" and sure enough, there was an "A."
  • Nichole can follow two step directions very well.
  • She is a little rascal and she knows too well when she is doing something she is not supposed to be doing.
  • Nichole is getting better at listening when we are outside. More and more she stops when we tell her too. After our escape artist incident, we have been cracking down on her with this one.
  • She is a matching champion! She can match any card to it's matching picture.
  • She is trying to jump, and she is getting so close!
  • She is very good at imitating and she does fairly well at dance class. But anything we ask her to do, she is willing to try.
  • Nichole loves her big sister Ellie.
  • She is great at playing pretend. She likes to play doctor, mommy, and Barbie.
  • She enjoys playing dolls too, and Barbies are a favorite in our house.
  • She loves to color and she is pretty good at it! She does not stay in the lines, but she can cover a hand with color.
  • She does fantastic at church with her different activities. She follows along with the songs, doing actions, listens to the stories, and loves it!
  • She still gives the best hugs!
  • Nichole cannot handle someone being sad, she has to hug them and pat their back. She is too sweet!
  • She can climb up and down the stairs on her own, but I am always there because she is not very safe yet.
  • She can fed herself and does a phenomenal job at drinking from an open cup. As a matter of fact, she gets an open cup for lunch and dinner.
  • She likes to look cute, and she loves looking at herself in the mirror and look at her pictures.
So this is my sweet girl in a nutshell. I cannot imagine my life without her. There is really nothing about her that I would change. We are all in love with this little girl and feel so blessed to have her in our family!

Sara's Story - An Adult with ACC




Hello, My Name is Sara, I'm 30 years old and have
Hydrocephalus (VP shunted), Epilepsy, Complete
Agenesis of the Corpus Callosum & Chiari Type 1.

I was made aware of my ACC during an emergency room
visit for Hydrocephalus related issues. I was 19 yrs
old at the time.

I have always struggled in school both academically
and socially, math was always the most difficult
subject, though in 4th grade my reading and
comprehension were at about college level. To this
day math is still very difficult for me.

I always had friends but seemed to lose them as
they moved on to other interests (like boys) and
as I progressed from Elementary, Jr & High School.

I was always more at ease with my friends parents
then my friends, and generally speaking my friends
are usually much older or much younger than I am.
I never quite fit into my peer group, and still
don't feel like I fit in.

I attended Regular Education classes with Special
Education support from Kindergarten until I
graduated High School.

My Balance has always been off and things like
riding a bike and roller skating always took
considerably longer then my normal peers, however
I was very strong willed and rarely gave up on
anything, at 30 I still have yet to get my drivers
license, though I hope to have it one day.

I'm the mother of 5, 3 in my home, and 2 in my heart.

My youngest son was diagnosed with an Autism Disorder
at 18 months, after reading a study on Autism and ACC
misdiagnosis it prompted me to research my own CC
disorder to see if my son might have one as well,
he does not.

We're currently testing my oldest daughter for
either an Autism or CC disorder, only time will tell,
however my middle daughter seems to be perfectly
healthy.

I also suffered 2 miscarriages, a little girl
later in the pregnancy due to a severe Spina
Bifida issues, and a son for unknown reasons.

I've been raising my kids by myself for the majority
of their lives with going to school, I'm working
on a continuing Medical Office Management Degree
specializing in Medical Billing. I've managed to
stay on the Honor roll, a real feat given my earlier
school struggles and one I'm extremely proud of!

My passion is my children, especially Pregnancy &
Infant Loss after the death of my babies, however
I'm also very active in the Autism community and
am finding my way in the ACC community as well.
I may have ACC, but I never let it have me!

~Sara


I am honored to have the privilege of being able
to post Sara's story here for you to read. And I
am incredibly thankful to Sara for her willingness
to share her own personal ACC story and details
of her life with us. Thank you very much, Sara.

Sara left a comment on a previous blog post
responding to "Autism and ACC".


"I have ACC and have 2 Children with Autistic-Like
Tendencies. One child has Autism (MRI ruled out ACC)
The other remains to be seen!"

Her comment sparked some e-mail exchanges between us.

In her e-mail to me, Sara graciously wrote:


"If you ever want to talk or ask questions feel free!
I live a very " open book" life."

Being the parent of a child with Agenesis of the
Corpus Callosum, and having a great interest in
learning more, I took her up on her very kind offer
and asked Sara some questions.

When did you find out that you have hydrocephalus?


"Since birth, I was actually one of the few babies diagnosed
in utero (in my mom's 8th month of pregnancy) before it was
commonplace."

Do you get any special education accommodations or
assistance at the school/college that you attend now?
If you do, what type of services do you receive to
help you?


"I don't have anything specifically in place however if
I need anything my tecahers are open and accomidating and
I don't suffer penelties for late work the way my normal
peers would. It's a very small private school so they don't
have a disabilities department the way a community college
or major university would, but they're willing to work with
me if I ever need extra time on tests or assignments. My
failures in High School have taught me that unlike most
people who use one learning style...I need them ALL in
order for the information to click...see it....read it.....
do it."

Is there any one thing (or more than one thing) that
you deal with now as an adult who has ACC that is
particularly difficult for you?


"I think the most difficult thing is the social aspect,
especially now that I have kids and need to interact
with other moms....It feels weird trying to fit into
their world. :( Part of me is still so much a child.....
and probably always will be. I can't always explain it,
but I guess that's part of the problem :D I just don't
feel like I *fit* with the normal moms."

Have you tried in the past to get your license by
taking the written test or the actual driving test?


"I've taken the written test and passed it, but the
driving test I haven't taken or passed, I still feel
very unsure of myself behind the wheel and I don't
have a car I can practice in and the length of normal
driving instruction classes doesn't seem long enough
to me."

I could go on and ask Sara more questions...but I
thought it would be a great chance for some of you
to ask Sara a question so I asked her if she would
be ok with answering your questions.

Sara replied:


"That would be fine! Like I said.....Open Book.
If I can help another parent I will :D"

QUESTIONS FOR SARA:


You mentioned in a post to the Listserv that it took you
6 years of studying and hard work to get your high school
diploma. THAT is a huge accomplishment!

My questions are: Did you attend high school for four years
and left after four years without a high school diploma?

Or did you spend two additional years in high school
working on getting your high school diploma?

Or did you study for the next two years once you left
high school to get your GED?

Do you find it difficult to remember things that you
study and read?

Do you have difficulty recalling information?

What specific kinds of things do you do that help you
remember and recall information?

SARA'S ANSWERS:


Questions are ALWAYS welcome! I attended HS for 6 yrs
straight, though I had to repeat 10th grade 1 1/2 times,
and then 1/2 of 11th grade :D so that made 6 yrs :D Back
in the day a GED wasn't * as good* as a HS Diploma so
H*ll was going to freeze over before I didn't graduate!

As far as learning recall can be hard for me and in HS
they focus so much on " find your learning style" and
while some are auditory, and some are visual and some
hands on learners....I really need all 3 to get it!
Plus it really took me until College to find an
organization system that worked for me...so it's hard
to STUDY notes if you can't FIND them :D I spent all
of HS pretty much trying to find my way on my own....
one thing would work for a while and then it would be
too hard to keep up....and now in college I keep it
simple...1 notebook one folder...everything has a place.
In HS every teacher seems to have a way *they* want
things....and everytime I tried * thier* way I failed!

QUESTIONS:


When you read something in a book, can you easily remember
what you read and recall the information at a later time?
Is that easy for you?

If it's not easy to recall information, do you do specific
things that help you when you study...like type up notes or
turn it into a song or something else that helps?

Or is your difficulty more with staying organized?

SARA'S ANSWERS:


Yes Information Recall is pretty easy for me , maybe
not the first time but what I will do is read something
all the way through the first time (I devour books!) and
then go back and reread maybe 1-2 sections/ chapters at
a time if I really NEED to know the material
( like for a test) but usually after the first time I can
tell you the gist of a story.

But the majority of my issues in school were organization
especially because it seemed there were always 1-2 teachers
(if not ALL of them) who insisted i have a separate notebook/
folder for each class and that was too much for me to keep
up with. Now I have one Folder...and 1 multi-subject Notebook,
much easier

If you have a question for Sara I will pass it
on to her and post Sara's answer here on her story.

You can also E-Mail me your question for Sara.

And if you want to leave a comment for Sara I am
sure she would appreciate it.



If you are an adult who has ACC or a corpus callosum
disorder, would you like to share your story?

I would love to hear from you.