MOSAIC MOMENTS

I have set up my email to get Google Alerts. This helps me to keep up with any new information concerning Down syndrome and mosaic Down syndrome. I have met a lot of new people this way and have had the opportunity to get a glimpse into people’s lives and what they are doing with their child.

Yesterday in my email box, I got a glimpse into Lianna and Gabe’s life. And I could totally relate to what Lianna was saying. I am sure that she doesn’t feel this way every waking moment of every day, but as parents we do tend to have these days and I think Lianna voiced what most parents feel, but maybe do not express out-loud. As parents of children with special needs we are somehow put on this pedestal of expectations and are expected to be consistently happy with our situation. And, most of the time, we are!

But then there are those days, when we feel like Lianna did yesterday…..

Here is Lianna’s story…

http://mylifewithgabriel.blogspot.com/2008/07/there-are-days.html

There Are Days…

There are quiet moments within me when I wish with all my might that the whole damn world had Down syndrome. I wish that Down syndrome was the “norm” and I didn’t have to second guess myself, my son and the people around me.

Every parent feels this way at one point or another and I don’t think it matters if your child has special needs or not. Parents worry… it is our job! Is my child tall enough, thin enough, smart enough, fast enough? The list goes on and on. We are not all the same because God made us all different. However, when someone looks at your child as if there is something wrong with them, there is this pain that stabs you in your heart because more than anything you want your child to be accepted in the world. You want everyone to see your child’s funny side, their tender side, their personality–the way you see it. When a parent looks at their child, they don’t see the faults, they see the child! And it hurts when others don’t see that.

I encourage everyone to read:

If People With Down syndrome Ruled The World

Dear Lianna—Please remember that Italy is not always a wonderful place! Italy has just as many problems as Holland does and sometimes…. it has so many more! So, in the midst of the weeds, find the tulips! In the middle of the storm, watch the windmills as they gently turn in the breeze. And remember that you are not alone in any of this! We are all in this together and together—we can help everyone understand what are  beautiful place Holland is!

Photo and video editing at www.OneTrueMedia.com

Today I have a very inspirational story to share. This is a story of how 2 little girls, one with Down syndrome and one with mosaic Down syndrome, who live 12 hours apart on a sunny day’s drive came together, via their moms, and are now providing inspiration to everyone who meets them!

Moms, Diane and Kris say, “The inspiration for this site came from two little girls who happen to have an extra chromosome on the 21st spot. We plan to put videos, pictures and stories to share with you the fun and joy that Erin and MaryEllen bring to our families. We guarantee you, they will brighten your day and bring a smile to your face. Be sure to check back often to see what they are up to, and to see that Trisomy 21 is only a part of who they are! God bless, Kris and Diane”

There are so many great stories on their two sites that I could not begin to choose one! I highly recommend everyone to visit both their sites at

http://erinandmaryellensexcellentadventures.blogspot.com

http://hiddentreasuresthet21journey.blogspot.com/

In addition to their great site, Diane and Kris are having a fantastic give away for all who leave a comment on their site!

APPLEBEE’S RESTAURANT DRAWING GIVE AWAY!!

Here is how it works…

You can win two different ways!

1. You can win a $25.00 gift certificate to Applebee’s Restaurant.

To win this one, all you have to do is post a comment on our blog under their post telling them why you are enjoying the new pages. Don’t forget to also post your email address. If there isn’t an email address, you will not be included in the drawing. We will use this to contact you to be able to send you your gift certificate.

2. You can win $50.00 gift certificate to Applebee’s Restaurant.

On this one there is a twist, you need to send their blog to your friends. If four of your friends post on their blog under their post, that you sent them there,  they will enter your name in the drawing. Each of the four need to leave their email addresses so they can confirm their post. Ask them to make sure of two things, that they tell us who sent them, and they leave their email address. If either of those conditions is not included you will not be able to be entered in this part of the drawing. They will qualify to win the $25.00 one though just for posting if they leave us a positive comment about why they enjoyed our new page.

In both instances, they will collect all of the entries, and put them in a hat and draw a name. They will be asking ME to do the drawing.

When doing this from this post, please leave a comment saying that Kristy Colvin sent you! I would love to get a chance to win this gift certificate!!!

From Diane and Kris,”We contacted Applebee’s to ask them if they had a policy about hiring individuals with Down syndrome. You will be happy to know they assured us they would be happy to hire anyone who is qualified to do the job that they are hired to do. And that Down syndrome would not prevent them from hiring an individual if the person was qualified! We were glad to hear that they are open to this possibility! We expected to hear this, but we were glad to hear their enthusiasm when we spoke with them!”

Pass this along, and we hope you have fun trying to win!

The drawing will be held on August 26. All entries must be in before this date.

When looking for stories throughout people’s blogs, I look for something that tells about who the person is. This may be something they wrote long ago or something very recent. Either way, it will give you a glimpse of their life.

Today, I want to introduce you to Jenny and her family. Jenny has 3 children. Sean is 5, Katy is 4 and JD is 1. Jenny’s blog introduction says,

“If you think my hands are full, you should see my heart”

Wow! What a wonderful statement!!!

And, without a doubt, Jenny’s hands are full!

Sean has Autism and Katy has an undiagnosed syndrome. and JD…. He is ONE YEAR OLD!! That is enough to make anyone’s hands full! Thankfully, she has her wonderful husband, William, to stand by her side and help out with this busy brood!

For those of you who know me and have been reading my blog, you know Tim was not diagnosed until he was 2 1/2 years old. For me, this was very hard. I knew something was wrong with him, but it seemed as though no one was listening to me!

But, the difference is, I did get a diagnosis! Jenny, along with a bunch of other families, are desperately searching for answers for their children. They belong to a wonderful support group called SWAN (syndromes without a name)

You can view their website at http://www.undiagnosed-usa.org

So, I would like to share with you today a piece of Jenny’s life…..

http://busiestmommyinamerica.blogspot.com/

Thanks Jenny for sharing your story with us! I pray that you get your diagnosis soon!

In my search for new people and information, I have found many new and interesting stories! I hope that this new quest of mine will not only help everyone who reads here, but also along the way I hope to make lots of new friends!

Our first story is about mom Becca and her beautiful daughter Samantha who has Down syndrome. I had to chuckle at this story because I remember the days of potty training along with books to read, candy to bribe, and the ever present potty dance!

We have all been there at some point in our lives or maybe some of you are there right now!

This story comes from http://thebatesmotel3.blogspot.com/

Thanks for sharing with us Becca!

Looks like Dr. Lewanda may have been on to something when she suggested that we start getting Samantha interested in potty training. And I have to give credit to my mother, as well, who gave Sammi a cute, illustrated book about a baby learning to use the potty. It’s written for kids, from the kid’s perspective, and Samantha makes me read it over and over again to her.

On Friday night, just before I put a naked Samantha into the tub, I realized that the water was too hot. I set her on my lap and began to run cold water in the bath. On a whim, I set her down on her potty, and sure enough, she went! Not just a trickle, either–a nice sized puddle in the little catch cup! I must say, however, I was a little disappointed that she wasn’t sharing my glee and excitement. She looked completely nonplussed. *sigh*

Last night, again on a whim, I put the potty in her room and set her on it before I put her jammies on, and asked her, “Do you want to go pee pee in your potty?” And again(!!!) she piddled out a nice stream! No reaction whatsoever on her part, but Steve and I were jumping up and down. This morning, I tried it again, but she just sat there and signed “book”, and did nothing else. Yep, she knows what the potty is for!

Today, I am on a quest! A quest for information, stories, and sharing lives.

I think back in the day when we didn’t have the technology that we now have. We wrote letters and mailed them and then waited patiently for weeks to receive a reply from the letter recipient. We rarely made long distance phone calls, but if we did, they were made in the late evening hours when the rates were lower and we watched the clock the entire time to be sure we weren’t adding too much expense on our phone bill!

The technology we have today, has in many ways made our lives much better. I can write a letter to a friend, family member or colleague, and expect an immediate reply! I can call anyone within the United States and talk for hours on end if I choose, and never worry about the minutes adding up to dollars! In fact, I can drive down the road and continue my phone conversation, thus enabling me to multi-task!

So, with all the wonderful technology that we now have in place, this will, without a doubt, help me on my quest!

There are thousands of families and individuals out there who write a blog that tells their story of their life.  I would like to add those blogs to my site so that others can have access to that information. I am especially interested in those blogs who deal with Down syndrome, mosaic Down syndrome, Autism, ADHD, or any other disability.

Everyone has a story to tell! And, that story will touch someone’s life in some way. It may inspire them! It may change their perspective. It may connect you with that one person in the world who totally “gets” what you are going through!

So, if you write a blog, or you know someone who does, please leave me a comment by clicking the link below that says “comments” and leave me your link to your blog!

Also, if you have other links you would like to share that you think will help others, feel free to leave those too!

With everyone’s help, this can be a central spot for information on Down syndrome, mosaic Down syndrome and other disabilities.

I would love to share your story with others! When giving me your link, please let me know if you would like me to share one of your posts on my site! Give me the link to your favorite story and I will spotlight your story on this site!

If it isn’t in English, that is ok too! I will make an area for other languages in my blog so that those around the world can connect.

EVERYONE has a story! Please let me, and others, know yours!

I always try to learn something new every day. Sometimes, I search out new things to know about and sometimes it happens by accident. Yesterday was one of those days.

Almost everyone throughout the world knows about the beloved children’s books Curious George. Curious George is the adventures of a very curious monkey who lives with “The Man with the Yellow Hat” and often his curiosity gets him into big trouble.

This book is translated into several languages making “Curious George”  Peter Pedal in Denmark, Nysgjerrige Nils in Norway, Nicke Nyfiken in Sweden, Hitomane Kozaru in Japan, and Jorge El Curioso in Spanish speaking countries.

The series was written and drawn by the team of H.A. Rey and Margret Rey, starting in 1941. According to Hans A. Rey’s obituary in Sky and Telescope, the couple fled Paris in June 1940 with the “Curious George” manuscript in their luggage. A German officer who searched it allowed the couple to pass because he thought it deserved publication, unlikely to happen under Nazi occupation because the Reys were Jewish. At first only Hans A. Rey was credited for the work in order to differentiate the Reys’ books from the large number of children’s books written by female authors. Later, Hans Rey was credited for the illustrations and Margret Rey for the writing. The Reys produced many other children’s books, but the Curious George series was the most popular. It has been re-edited continuously in the six decades since the first volume came out. The current United States publisher is Houghton Mifflin of Boston.

I can just imagine in my mind the Reys’ fleeing Germany with their manuscripts–praying that they would not be taken by the soldiers. It is amazing to me that this soldier let it pass through. I imagine the soldier beginning to read these manuscripts, and being so engrossed with the story, he takes a seat to finish reading. Perhaps he laughs at Curious George’s antics and realizes, that it has been a very long time since he had genuinely laughed. Then, when he is finished, perhaps he thinks about the consequences for letting these papers pass with these Jews. He is taught to hate them and not care at all about their welfare. However, something deep inside him tells him to let the papers pass. He knows it would make a great book. He probably had no idea of the impact on the world he had made by letting those papers pass.

Another extremely interesting fact about Curious George that I did not know is that the story Curious George Takes a Job was based on a young man with Down syndrome!

According to Answers.com….”the book Curious George Takes a Job was inspired by a true story. A boy, whose name is not known today, was born in Hamburg in 1909 with Down’s Syndrome. He was institutionalized by his parents, condemned to a life at the facility.

When the boy was 15, he escaped from the institution and fled into the city streets. Hungry and in search of food, he found the briefly unattended kitchen of a restaurant, where a cook found him playing with the food and eating it. The cook, intrigued, put him to work to clean dishes, and took him home that evening. Within the following days, the cook arranged with a friend to have the boy wash windows at an office building.

The boy’s work went well at first. But in one office, he found colored paints. He used them to paint a mural on the wall of the office. The tenant returned to his office after a lunch break to find the boy busy painting, and he started to chase after him. The boy jumped out a third-story window, breaking some bones.

The story made local headlines. After several weeks of hospitalization, the boy was formally adopted by the cook, and he later became the star of an amateur movie. He was recognized in the coming years as a talented artist. Some of his artwork was sold by the renowned bookseller, A.S.W. Rosenbach.

While his identity, art, and other details of his life were lost in the ravages of World War II, he is believed to have been put to death by the government of Nazi Germany.

Imagine the way things were way back then. This child was condemed to an institution for life! The restaurant owner could have easily sent him back to the institution. Or, he could have kept him to make him work. That way, he wouldn’t have to pay for the help he needed. Instead…he adopted him! Things like this just didn’t happen back then. And, not only did he adopt him, he saw his true talents and didn’t deny him of those talents just because he had Down syndrome. I wonder if this man had a Yellow Hat? Yellow is the sign of joy and happiness…. I imagine that he must have worn one every day even in the dissolution of the war!

My 4 yr old grandson, Spot (his given name is Anthony but we have always called him Spot) used to say, “It is, and It isn’t… I said Both!” He made sure that he covered all his bases in case there was a debate on his observation. Spot is definitely a little character and always has something to say about everything!

This brings me to the debate on mosaic Down syndrome and Down syndrome.

Are they the same?

It is, and it isn’t!

With IMDSA and DSAGC in the midst of our conference planning for our July 2009 Research & Awareness Conference, this question continues to come up. Families of children with Down syndrome worry that this conference will not provide them with the information they need to help their child who has Down syndrome.

However, people with mosaic Down syndrome DO have the same kinds of delays as those with Down syndrome. They still need Speech, Occupational and Physical Therapy. They still are at the same risks for the same medical conditions such as heart defects, thyroid disease, and leukemia. They still have feeding issues, sensory issues, behavioral issues, and the risk of Autism.

Every single issue that an individual with Down syndrome experiences, a person with mosaic Down syndrome also experiences!

So, in planning this conference, we invite all the same speakers that someone would invite for any Down syndrome conference! And, we are inviting some of the big names in the Down syndrome industry! Along with many researchers interested in doing research for Down syndrome.

THIS IS A DOWN SYNDROME CONFERENCE!!

Just in case you didn’t hear me……

THIS IS A DOWN SYNDROME CONFERENCE!!!

Within the next few weeks, we will have registration information available on our site. We are very excited about bringing this conference to the Cincinnati and do hope for a large turn out of participants throughout the world.

Our conference theme–Building Bridges for Down Syndrome– explains our mission.

First, we are bridging a gap between the two communities of Down syndrome and mosaic Down syndrome. Over the years, we have had numerous families come to us and say that their Down syndrome community did not welcome them in. To me, this is sad. The local DSA’s have so much to offer, but they often have this preconceived notion that because the family’s child has mosaic Down syndrome, they “aren’t delayed enough” to warrant their services. Not all DSA’s are this way! Many embrace every parent who walks through their door! But, there are many who don’t want to give the family the time of day!

(if you are a board member of a DSA and would like online or printed materials, please just email me or give me a call! We have lots of great information that you could pass along to your families)

Many ask us why we formed an organization for mosaic Down syndrome specifically. This is one of the main reasons why. Because families felt they had no where to go.

But also, and this brings me to the “It isn’t” part, they come to us for answers that no one else seems to be able to give them. Although people with MDS can have all the same delays as one with Down syndrome, a lot of times (but not always) the child with MDS meets their milestones at a faster pace than those with Down syndrome. Or, they aren’t affected in one area of development, while they are in another. (this depends on where the affected cells are located) We don’t know a lot about mosaic Down syndrome and how it is going to affect each person. We are working with researchers to discover the mysteries surrounding mosaic Down syndrome. Unfortunately, this takes time!

The other part of our “Bridge” in “Bridging the Gap for Down Syndrome”is we are bridging communities all around to help everyone better understand Down syndrome. A perfect world would be when someone doesn’t look at a person with Down syndrome (of any form) and take two steps back and divert their eyes because they are afraid the individual might talk to them!

People with Down syndrome (of any form) are just like everyone else! They have the same wants, needs, hopes and dreams!

If you have questions or comments about our upcoming conference, please feel free to leave a comment in the comment section or email me and I will be happy to answer your questions directly.

Today, I am very excited! It seems as though everything is moving so quickly at IMDSA that often, my head is spinning! However, that is a good thing! When we began our organization 8 years ago, (it has been 7 since we have had non-profit status) none of us had a clue what we were doing! We had a vision, we knew what we wanted to happen, but that was about it! We knew nothing about how to run a non-profit organization. We were, after all, just a bunch of parents with children with mosaic Down syndrome.

However, as I look back on the past 8 years, I am amazed at all we have done to help families and professionals touched by mosaic Down syndrome!

Last year, our treasurer, Mary, said “Something Big is About to Happen” and she was right!!! 2007 was definitely our “something big” year! But now, as we are half-way through with 2008 (Wow! Where did the time go?) It seems that we have already surpassed that “something big” stage!

So…..why am I so excited today??? Today, after a lot of work through many gracious people, we finally have our official MOSAIC DOWN SYNDROME AWARENESS RIBBONS!!!!

For those of you who don’t have a loved one with mosaic Down syndrome, this is no big deal. However, for those who are trying to educate the world about this rare form of Down syndrome, this is “Something Big”! Most everyone has an awareness ribbon for something and so finally we have our own!

For those of you who are interested in purchasing a car magnet of our ribbon, you can just go to our site to order yours!

They are truly beautiful ribbons and definitely represent mosaic Down syndrome in every way possible!

Each color in the ribbon has a very special meaning:

In most cases, parents know before or at birth that their child has Down syndrome. Often, they have a preconceived notion of what their child will be capable of doing and often limit their child from trying new things because the parent is worried that their child will be incapable of achieving their goal.

It isn’t that the parent is intentionally holding their child back. I think that they just are worried that their child will meet failure and they have an idea that because the child had Down syndrome, they are incapable of doing something specific. This is usually something they are doing without even realizing they are doing it.

As parents, we never want our children to be disappointed. However, disappointment is part of life. This is how we learn. We try. We fail. We try again. And, eventually we may just give up and decide that it isn’t worth the trouble, but at least we can say that we tried!

Because Tim was not diagnosed with mosaic Down syndrome until he was 2 1/2 yrs old, I had no preconceived notions of what he could or could not do. I expected him to act like every other 2 yr old and I expected him to learn like every other 2 yr old. So, when he was diagnosed and all the “experts” around me asked what I expected Tim to do, I thought long and hard about that. And, I decided that if I changed the way I was already treating him, he would be the one who came out short changed in the deal.

I decided that the delay of his diagnoses was a blessing in disguise. If I were to have known at birth, I probably would have been more over-protective of him and would not have encouraged him to do the things that all his peers do.

It doesn’t matter if your child has Down syndrome or any other disability. They are still capable of doing things that others are doing. And, if you stop them from trying something new, or don’t encourage them to try something new, they will never learn from the experience and never grow emotionally into the adult that we, as parents, are supposed to be raising.

This doesn’t mean that all children with Down syndrome are capable of driving a car! Tim doesn’t drive. It scares me to death to think of him driving. However, the reason that I don’t let him drive is because he has slow reflexes and an extremely short attention span. I worry that he would see something off the side of the road and forget to watch the road! I worry that if someone slammed on their breaks, he wouldn’t have a fast enough reflex to put his on too. So, there are things that you must hold your children back from doing, but only if it is harmful to them.

Tim is capable of doing most everything else. We have a running joke in my house that when one of the boys doesn’t clean up behind themselves, push in their chair, or my big pet peeve, close the cabinet door (Tim does that all the time!) I will ask the “offender” if he has a disability that stops him from (pushing in chair…etc)

Tim’s answer, “Yes! I have mosaic Down syndrome!”

I continually tell him that is not an excuse for not cleaning up after himself. However, he may have “sloppy young man syndrome” and that is probably more his disability at this point than anything else!

So, how do you raise a child with Down syndrome? Just like everyone else!

Today I received a results from a new study concerning prenatal screening and how women feel about receiving this screening.

This study, Understanding pregnant women’s decision making concerning prenatal screening, was conducted by van den Berg, Matthijs; Timmermans, Danielle R. M.; Knol, Dirk L.; van Eijk, Jacques Th. M.; de Smit, Denhard J.; van Vugt, John M. G.; van der Wal, Gerrit Health Psychology. 2008 Jul Vol 27(4) 430-437

During the study they asked 1,666 pregnant women how they felt about prenatal screening for Down syndrome.

The researchers stated, “Attitude toward termination of pregnancy, perceived test efficacy, and subjective norm regarding the desirability of having prenatal screening determined a woman’s attitude toward having a prenatal test. Anxiety was influenced by perceived risk and perceived severity of having a child with Down’s syndrome, and by subjective norm, but this appeared to be a weak predictor of intention to test. Pregnant women with a positive attitude toward prenatal screening, and who perceived a subjective norm in favor of undergoing prenatal screening, showed a greater intention to have prenatal screening done.”

The results of this test basically mean that it depended on the attitude of the woman and how she regarded prenatal screening and abortion. If it didn’t bother the mother, then she was for it. If it did, she was against it. (ha! big revelation there!) But, more importantly, it also says that “Anxiety was influenced by perceived risk and perceived severity of having a child with Down’s syndrome”.

Their conclusion states: 

“These findings suggest that more attention should be paid toward the values and social context of pregnant women during the counseling process.”

A few years ago  Brian Skotko did a study on how parents receive the prenatal diagnosis of Down syndrome. In this survey more than 1,200 mothers responded,including 141 who received a prenatal diagnosis of Down syndrome.

Results suggest seven ways that physicians can improve how a prenatal diagnosis of DS is delivered to patients.

1. Results of the triple screen should be clearly explained as a risk assessment, not a “positive” or “negative” result. Many mothers understood the triple screen to be an all-or-nothing diagnostic test, even after their obstetrician had given them the results. The weak sensitivity and positive predictive value of the test should be explained in terms that each mother can understand. In addition, mothers requested that DS be first explained after the screening test rather than waiting for the results of an amniocentesis or chorionic villus sampling (CVS) to begin a discussion.
2. Results of the amniocentesis or CVS should, whenever possible, be delivered in person, with both parents present. Mothers who had learned of the diagnosis by telephone reported intense resentment for their obstetricians and/or genetic counselors. Ideally, physicians should ask that all persons receiving definitive prenatal testing return in person to hear the results. If a personal visit is not possible, physicians should offer each couple the option of returning or receiving the results over the telephone. If the latter, physicians should note that women who have children with DS wish they had learned the results in person, with their partner present. If the diagnosis is delivered on the telephone, the physician should arrange for a follow-up in person visit as soon as possible.
3. Sensitive language should be used when delivering a diagnosis of DS. Mothers requested that physicians not begin by saying, “I’m sorry,” or “Unfortunately, I have some bad news to share.” In addition, several mothers, including some who had children as recent as 1997, reported their obstetricians had used the word “mongoloid” in describing DS, a term that is reprehensible in today’s society and should not be used by today’s physicians.
4. If obstetricians rely on genetic counselors or other specialists to explain DS, sensitive, accurate, and consistent messages must be conveyed. In 1999, one mother reported that her genetic counselors “told my husband and I that our child may not be able to complete school, will have limited cognitive abilities, and may remain a child, emotionally and mentally for life. Her information didn’t include any possi-bilities of the lowest to highest range of functioning at all.” Another mother wrote, “[the genetic counselor] showed a really pitiful video first of people with DS who were very low tone and lethargic-looking and then proceeded to tell us (in 1999) that our child would never be able to read, write, or count change.”
5. Discuss all reasons for prenatal diagnosis including reassurance, advance awareness before delivery of the diagnosis of DS, and adoption, as well as pregnancy termination. Many of the mothers who responded to this survey never planned to terminate the pregnancy and were upset when their physicians provided detailed descriptions of pregnancy terminations without knowing whether they would like those options discussed.
6. Up-to-date information on DS should be available. Respondents requested clinical information on the health concerns for infants with DS and “success stories” that demonstrated the potential and possibilities for children with DS. A list of current and relevant resources can be found on the NDSC’s Web site, www.ndsccenter.org.
7. Contact with local DS support groups should be offered, if desired. Respondents appreciated providers who gave them contact information for local DS support groups. One mother reported that, after talking to other parents, “I felt 100 percent better and positive about having my daughter.” Another mentioned, “I regret that I didn’t get involved with any support groups in the beginning. I thought everyone would sit around and cry on each other’s shoulders, and I wasn’t ready for a pity party. I only wish that physicians, nurses, and hospitals were better informed about the wonderful opportunities that are out there to help parents.”

Having a prenatal diagnosis of Down syndrome does not have to be a negative experience, as long as those delivering the diagnosis have up-to-date information and provide positive feedback to the families receiving the diagnosis.