MOSAIC MOMENTS

For the past several months, IMDSA has been monitoring the proposed US Health Care Reform. The way the current wording is, in this proposed bill it is not certain that individuals with developmental delays, medical conditions, or genetic conditions would receive health care, the therapy services that they currently receive, or adult and elder care such as assisted living or nursing care.

Our first priority is always our families. With many of our families living in the US, we realize that this is a deep concern for you. We want to assure you that we are in contact with many of the legislators and we do not plan to allow this bill to pass with its current wording.

This coming Wed, Sep 16th, a press conference will be given in Washington DC with many concerned families along with Congresswoman Cathy McMorris Rogers. In the press package that will go along with this press conference, we ask for families to include stories of their loved ones and how this bill would affect their loved ones in its current vague wording. This story needs to be by American families and must be no more than one page in Word and a picture needs to be included on the page. Because of our quickly approaching deadline, all stories must be received no later than this Sunday afternoon.

Please send your attached story to my email address at Kristy@imdsa.org with the subject line Health Care Story.

I know that many of you have questions regarding this bill. We have those same questions. We will keep you updated as we receive new information.

As you all know I have been crazy busy planning for our upcoming conference! I wanted to give y’all some important info so you don’t miss out. 

First of all, Next Friday, June 19th is the deadline for reserving your hotel room. We got a great room block at the Sheraton Cincinnati North Hotel & Indoor Water Resort. It is only $105 per night and for $12 per person you can enter the water park. You can book your hotel by going to our website. 

The conference registration deadline is Friday, June 26. After this, the fees will increase. You can register at our website.

Finally, please see below our press release. If you have a blog or an email list, please post this information for others to see. We are very excited to bring this to everyone and we would hate for anyone who would benefit from this conference to miss out!

See you in just a couple of weeks in Cincinnati!!

 
Keynote Speaker Congresswoman Cathy McMorris Rogers with husband and newborn son w/DS,  Cole

FOR IMMEDIATE RELEASE-June 11, 2009

Parents of children with Down syndrome (DS) are universally concerned about the wellbeing of their child’s health, future, and ability to connect with other DS families.  The Down Syndrome Association of Greater Cincinnati (DSAGC) hosts “Building Bridges for Down Syndrome”: the fourth biennial research and awareness conference presented by the International Mosaic Down Syndrome Association (IMDSA).

The term Down syndrome (DS) was named after Dr. Langdon Down, a British doctor who first described the condition in 1887.  This year marks the 50^th Anniversary of the discovery of the extra 21^st chromosome that causes Down syndrome.  DS is a genetic condition that occurs in one in every eight-hundred (800) births.  There are four types of Down syndrome:  Trisomy-21, Translocation, Mosaic, and Mosaic-Translocation. 

The Down syndrome community has leapt many hurdles in paving the way for future generations, but there is still a lot of work to do.  The attendees of this biennial research and awareness conference are empowered with information, hope for the future of all individuals with DS, and are given the opportunity to participate in various research studies being conducted onsite during the conference.  Teens and adults with DS, along with their siblings, will learn everything from how to manage a budget to relationships and friendships in the “Teen and Adult Conference.”  Children ages 2-12 with DS along with their siblings, will learn a variety of subjects: Acting and Puppetry to Bullying to Stranger Danger in the “Kid Konference.”  Students interested in professional careers pertaining to DS will supervise these youngsters; giving them a better understanding of what DS really means for these individuals.  Together, families and professionals will enjoy the “Friday Night Family Reunion & Silent Auction” with entertainment from The Amazing Portable Circus and self-advocates Sujeet Desai, Tim Colvin, and Casey Morton.

Some attendees of the 2007 conference held in Richmond, VA said, “At the IMDSA’s Conference, there’s a sense of family the moment you step through the doors, everyone is welcoming.  I’ve learned so many things from all the speakers!” 

Join IMDSA and DSAGC Friday, July 10 through Sunday, July 12 at the Sheraton Cincinnati North Hotel and Indoor Water Resort in Sharonville, Ohio for a fully scheduled weekend of information, family fun, socialization, and entertainment by Sujeet Desai, Dan Kulp, Tim Colvin, and Casey Morton.  Over 30 experts will discuss various topics that will beneficial to the betterment of all families of children and adults with DS.  This is a life-span conference with topics pertaining to all ages of people with DS.  Researchers and professionals will also benefit greatly by attending.  There will be many great activities, workshops, and sharing of information.  A sure highlight of the weekend will be the “Family Awards and Celebration Banquet and Dance” with self-advocate Jennifer Katz and comedian/musician Dan Kulp. 

Reservations are filling fast and space is limited, so register and reserve your spot today!  For more information on how to register, visit www.imdsa.org

 # # #

The International Mosaic Down Syndrome Association (IMDSA) provides support, information, and research to any family, individual, or professional whose life has been affected by mosaic Down syndrome. Its Research & Awareness Conference provides support, information and research to all forms of Down syndrome.

Contact:

Kristy Colvin

IMDSA President

Email: president@imdsa.org

Toll free:  1-888-MDS-LINK

Web:  www.imdsa.org

In March, I wrote an article reminding us all of What Matters The Most. This was a celebration of the little things in life. Those small miracles that we often overlook in the busyness of our day. That was March 23, 2009. On this day, our little Gideon had taken his first steps! We were all so overjoyed with his accomplishment and his infectious laughter. Gideon is a strong willed little guy who happens to have mosaic Down syndrome.

This special event was just seven weeks ago.

Gideon was born with some heart problems that many children with Down syndrome and mosaic Down syndrome are often born with. In most cases, children are able to have a surgery to repair their heart and bounce back pretty quickly. I have heard countless parents recall the anxiety of the day their child had this surgery, only to say later that the hardest thing was to keep them still afterward and try to make them rest. 

Unfortunately, this is not the case for young Gideon. In the past two weeks, Gideon has had 3 heart surgeries and is now on a pacemaker and still being monitored very closely. Gideon is a strong little guy and like his name, he is a “Powerful Warrior”. 

But even warriors need soldiers to stand beside them to win fierce battles. Today, Gideon, and his mom Marriah, need some soldiers to stand beside them to win this battle. They need lots of prayers and as many Angels as you can spare.

The video above was just seven weeks ago of our sweet little warrior taking his first steps. 

The video below is Gideon now. 

Gideon will be celebrating his second birthday tomorrow!

Happy Birthday Gideon! 

Get Better Soon!

I know that it has been a while since I have posted a blog and I apologize to my devoted readers for my lack of writing. I have been incredibly busy with the planning of our Down syndrome Research & Awareness Conference and just have not had the time to write any more. Today, I announced our schedule for the main conference and we should have that on our site in a few days. Within a few weeks we should have our Kid Konference and Youth Conference schedules ready to go and I will publish them then.

If you have not yet registered for the conference in Cincinnati, time is running out!

Online Event Registration - Powered by www.eventbrite.com

In the research study conducted by VCU/MCV that we just recently posted on International Mosaic Down Syndrome Association’s website, a very interesting finding occurred. When comparing those with mosaic Down syndrome and Down syndrome researchers found that individuals with mosaic Down syndrome had a more frequent occurrence of congenital heart defects compared to those with complete Trisomy 21 Down syndrome.  Additionally, the found that individuals with mosaic Down syndrome had some specific heart defects that are not commonly found in those with complete Trisomy 21 Down syndrome.

As they continued to research this, they found that those with a higher percentage of Trisomy 21 cells in their blood had an increased risk of congenital heart defects compared to those who have lower percentages in their blood. 

I am sure hearing this for the very young parent or perhaps a parent who is prenatally diagnosed, at this point you are about to freak out completely! 

Take a deep breath……

First of all, I have found that there is a common misconception about these heart defects. Congenital means they are born with it.  You can not develop a congenital heart defect. Either it is there or it isn’t. 

For those who know their baby does have a congenital heart defect…. I know this is scary to think about. Heart problems are a huge thing! Our heart is very important! However, the majority of these heart defects that occur in children with Down syndrome and mosaic Down syndrome either ‘fix’ themselves as the child grows the hole closes or the problem disappears.

Then, there are others who do require surgery.  But now, because of the extreme advances in medicine, heart surgery is not near the issue it used to be. Most children are up and running around way before the doctor thinks they should be and they rarely experience any complications after the surgery. (depending on what it is)

This is the chart included in this study to demonstrate the heart defects found in those with mosaic Down syndrome compared to those with Trisomy 21 Down syndrome. 

 a Number of people having heart defect (number surgically corrected).
b Several subjects had more than one heart defect. Thus, the total number of specific defects is greater than the total number of individuals having a congenital heart defect.

I hope this helps you to understand this some. If you have questions feel free to leave a comment.

Yesterday I explained that the researchers at VCU/MCV just released new information on their research for mosaic Down syndrome. Although this information can be extremely fascinating, it is often difficult to understand all the big research wording. So, for the next few days I will be explaining this and along the way, if you have any questions, please leave a comment and ask! I will be happy to explain things further.

This research begins with what the goal of the research was.

The Phenotype of Persons Having Mosaicism for Trisomy 21/Down Syndrome Reflects the Percentage of Trisomic Cells Present in Different Tissues
Paulie Papavassiliou,1 Timothy P. York,1,4 Nurcan Gursoy,1,2 Gloria Hill,1,3 Lauren Vanner Nicely,1 Usha Sundaram,1 Allison McClain,1 Steven H. Aggen,4 Lindon Eaves,1,4 Brien Riley,1,4 and Colleen Jackson-Cook1,5*
1Department of Human and Molecular Genetics, Virginia Commonwealth University, Richmond, Virginia
2Department of Neurology, State University of New York at Stony Brook, Stony Brook, New York
3Virginia Department of Forensic Science, Norfolk, Virginia
4Virginia Institute for Psychiatric and Behavioral Genetics, Virginia Commonwealth University, Richmond, Virginia
5The Department of Pathology, Virginia Commonwealth University, Richmond, Virginia

Little is known about the pathogenesis of the phenotype in individuals with trisomy 21 mosaicism and Down syndrome. The primary goal of this study was to identify factors contributing to the observed phenotypic variation by evaluating 107 individuals having trisomy 21 mosaicism. To investigate a potential ‘‘threshold’’ effect due to trisomic imbalance, lymphocyte and buccal mucosa nuclei were scored using FISH. Overall, buccal cells showed a significantly higher frequency of trisomy than lymphocytes (P<0.0001). Using latent class analysis, two phenotypic classes were identified based on the clinical findings of the propositi. Patients from class 1 had significantly fewer traits and a lower percentage of trisomic cells (mean of 37.3% lymphocytes; 34.5% buccal mucosa cells) when compared to those stratified into class 2 (54.0% lymphocytes; 53.4% buccal mucosa cells). Tissue-specific influences were also detected, with buccal mucosa trisomy levels being significantly correlated with IQ (P¼0.0094; both ectodermal derivatives), while congenital heart defects were significantly correlated with lymphocytes (P¼0.0286; both mesodermal embryonic derivatives). In conclusion, allowing for the distinction of two groups, we observed variation in phenotype, associated with the percentage of trisomic cells. We also observed tissue-specific effects on phenotype. The results of this study should enable geneticists and other health care professionals to provide information regarding optimal diagnostic approaches and anticipated clinical outcomes.
2009 Wiley-Liss, Inc.

First, just like in elementary school when you read a new story out of your reading book, you have to have new vocabulary words in order to understand what all these new words mean:

Pathogenesis: This is a fancy word for the development of a condition

Phenotype: This means the physical, medical and developmental characteristics associated with Down syndrome and mosaic Down syndrome.

Lymphocyte: This is a cell that is found in blood and lymph tissues.

Buccal Cells: These are the skin cells that come from the insides of your cheeks. 

FISH: This stands for Fluorescence in situ hybridization. This is a test they do to detect missing or extra chromosomes.

Propositi: This is the person affected by the extra chromosomes

What all this means……

Little is known about the development of the characteristics in individuals with mosaic Down syndrome and Down syndrome. In this study 107 individuals with mosaic Down syndrome participated. The main purpose of this study was to see if there were any differences in health, development or learning when comparing the amount of the percentage of affected cells and to see what these percentages meant for the blood cells and the skin cells. Interestingly, the researchers discovered that there was a higher percentage of affected cells in the skin than in the blood. This research detected that the number of skin cells present did make a difference for IQ levels and the percentage of cells in the blood affected congenital heart defects.When looking at these percentages the researchers found a variation in the characteristics (health, development, and learning). With this new research, doctors should be able to make better diagnosis and give parents more information on what to expect concerning the percentages of affected cells.

This is just the beginning of the research study. The researchers at VCU/MCV found some very interesting things within these percentages, so tomorrow I will continue this explanation to help you understand what the differences are between mosaic Down syndrome and Down syndrome. 

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MySpace Generators

Last night the Discovery Health channel aired their Mystery Diagnosis “Black and Blue Baby” episode about Hannah Hannum and how she was diagnosed with a rare form of Leukemia called Myelodysplastic syndrome, then later it was discovered that the reason she had this rare form of Leukemia was the percentage of extra 21st chromosomes in her body that resulted in mosaic Down syndrome.

Hannah was lucky. She responded well the the chemotherapy that they were administering. However, if they had not discovered that she had mosaic Down syndrome, and gone ahead with the extra treatment they were planning, more than likely this would have been fatal for young Hannah!

Individuals with any type of Leukemia have a different kind of treatment than those without Down syndrome. This is because of the extra chromosomes and how they react to the chemotherapy. And without a diagnosis, individuals with mosaic Down syndrome can become very sick and even die because although most illnesses associated with mosaic Down syndrome are treatable, without knowing about the extra chromosomes they may not be treated properly or those illnesses may be left unnoticed until it is too late.

Dr. Peter Shaw from the Children’s Hospital of Pittsburgh was the doctor who treated Hannah Hannum and discovered the mosaic Down syndrome as well as a translocation of chromosomes 1 and 19. After this discovery, he recommended that all Leukemia patients who have acute myelogenous leukemia (AML) or Myelodysplastic syndrome (MDS) be evaluated for mosaic Down syndrome regardless if they had physical charateristics or other clinical features such as developmental delays associated with Down syndrome.

It is important to remember that mosaic Down syndrome is different in many ways from Down syndrome as much as it can be similar. Although individuals may not have the physical characteristics as one with Down syndrome or they may meet their milestones at an earlier age than those with Down syndrome, they still are at risk for certain health problems, developmental delays and learning differences.

Have a Question? Leave a Comment by clicking below on the comments link.

Tonight is the night! We have been waiting about a year for this day to arrive and it is finally here! Tonight at 10pm EST on Mystery Diagnosis we will have a small part of telling others about mosaic Down syndrome! This is a huge step for International Mosaic Down Syndrome Association as we will be able to reach so many more families whose children have mosaic Down syndrome and do not know that we are here to provide them with the support, information and research that we work so hard to provide to everyone!

Special Thanks goes to Holly Hannum for telling her daughter, Hannah Hannum’s story of being diagnosed with Myelodysplastic syndrome.(MDS) and later mosaic Down syndrome (mDs). Also, special thanks to Sue Johnson for offering her daughter Isabella to play the part of young Hannah! Not many times on Mystery Diagnosis do you get the opportunity to have 2 individuals with the same diagnosis and both were diagnosed later in life. These families did a great job of telling the story and if there is anything left out we will totally leave that in the hands of editing at the Discovery Health Channel.

If you would like to discuss this story after the show, I will be on Twitter (if I can figure it out enough! lol) You can find me on twitter by just clicking the box to the left of this post that says “follow” on Twitter.  To find out more and read more stories look below.

On April 6, 2009 the American station, Discovery Health, highlights one of our families’ stories on Mystery Diagnosis. Hannah Hannum is one of thousands of individuals with mosaic Down syndrome who was diagnosed later in life.

The average age for individuals to be diagnosed with mosaic Down syndrome is 1-4 years of age. The most common reason for this late diagnosis is the lack of knowledge in the medical field on this rare form of Down syndrome. However, many individuals can go undiagnosed up into adulthood and there are still thousands who never receive a diagnosis.

For more information on mosaic Down syndrome please visit our FAQ’s of MDS

If you feel that you or a loved one may have mosaic Down syndrome, please contact us and we will be happy to answer your questions.

We invite you to meet some of our families who have received this diagnosis later in life.

Meet Hannah diagnosed at age 3*

Meet Isabella diagnosed at age 10 months*

Meet Ryan diagnosed at age 3

Meet Allison diagnosed at age 5

Meet Tim diagnosed at age 2

Meet Christina diagnosed at age 25

Meet Rachel diagnosed at age 6 months

Meet Emily diagnosed at age 18 months

Meet Aidan diagnosed at age 2

*featured on Mystery Diagnosis

International Mosaic Down Syndrome Association provides support, information and research to all individuals and families touched by mosaic Down syndrome. IMDSA is a nonprofit organization, and is dependent completely upon generous donations to continue its mission of helping families and individuals with MDS. All donations are tax-deductible to the fullest extent of the law.

The most asked question of all young parents of children with mosaic Down syndrome and for that matter parents of children with any form of Down syndrome is “What will my child’s future be like?” As parents, we all have that stigma embedded into our brains and the worry follows close behind.

Of course, there is no way to predict any child’s future. For me, and many others, we just take it day by day. There is a scripture in the bible that says, “Don’t worry about tomorrow, because today has enough trouble of its own. Matt. 6:34″ This is something I have lived by, or at least tried to, throughout my children’s lives. They have taught me that there are no certainties. There are no guarantees. You just do your best and give your children the most opportunities possible, you don’t hold them back and they will blossom to whatever that may be!

About 7 years ago, my friend Susan did just that. Her daughter Melissa graduated High School, got married to her sweetheart, moved all the way to Maryland (from Texas) and she and her husband Adam opened a cafeteria that they still run today. Melissa has mosaic Down syndrome. Her husband, Adam is Blind. 

I held my breath!

I couldn’t imagine my child moving across the country away from me. I guess I am a worrier. I admired Susan for being able to let go the way she did and let Melissa live her life. 

A few years passed and Melissa and Adam had their first child-a girl! Marianne is beautiful and Melissa is a fantastic mother and Adam is a great dad! 

Your first question…. I know…. No… Marianne does not have Down syndrome. Melissa’s affected cells are not in her reproductive organs.

In 2007, Melissa and Adam came to our Research & Awareness Conference where Melissa was our keynote speaker for the banquet.  Last year, they began making plans to attend this year’s conference! However, their plans were changed. 

Like I said…. You never know what the future will hold!

Instead of attending the conference they will be taking care of their new son Adam John. Little AJ was born Friday April 3rd at 9:22am. He weighed 8 lbs and 12 oz and was 21 inches long. Mother and baby are both doing good. AJ has a bit of jaundice and a small Cleft pallet, but he is simply beautiful and already very alert for a newborn! Marianne is loving her new baby brother and everyone is very happy and proud to have him in the family!

I promised Melissa that I would not share pictures of her right after birth! I know what I looked like after my kids were born and although I think Melissa looks beautiful even right after giving birth, there is no way that I would do that to any mother! So, here is a picture of Melissa and Adam at our 2007 conference at our after banquet dance.

The picture I am dying to share with you is this one! 

Marianne with her new baby brother AJ.

No one knows what the future will bring. But with opportunities ANYTHING is possible!

Congratulations Adam and Melissa! You have the most beautiful children! I wish you all the best!

Yesterday I told you about our great news about the Hannum family being on Mystery Diagnosis this Monday April 6th at 10pm EST. The twist to this story is when they taped the show they needed a person to play young Hannah in the reenactment. It didn’t take long to search for someone because Isabella Johnson lived in the same town as Hannah Hannum and she, too has mosaic Down syndrome.

Isabella has her own Mystery Diagnosis story (just not featured on the Discovery Health Channel) When Isabella was 4 months old her mom Sue noticed her pupil did not dilate in one eye and she also kept questioning the smallness of her daughter’s head.  Finally at 9 months of age she was referred to a Geneticist. After convincing the doctor to run test, it was discovered that Isabella had not only mosaic Down syndrome but also Triple X syndrome. (this is a extra copy of the X chromosome) 

Now, at 27 months old, Isabella is beginning to show some speech delays but her motor skills are doing great and she is the joy of her mom and dad’s life!

Isabella is also featured on the back cover of IMDSA’s “What is Mosaic Down Syndrome For The Professional”

For more stories of late diagnosis of mosaic Down syndrome, please visit IMDSA’s website by clicking here.