MOSAIC MOMENTS

Many ask the question of why research for Down syndrome and mosaic Down syndrome is so important. Some argue that their child “isn’t a guinea pig” and they don’t want them to be poked and prodded and examined by every doctor that comes along. I used to be one of those parents. I was tired of everyone grabbing my son’s hands as we walked along the corridors of the pediatric wing of the hospital looking for the non-existent simian crease that would explain his extra chromosomes. I wanted him to just have a “normal” life where people didn’t look at him differently. And, NO, he wasn’t a guinea pig!

However, I think back to those 20+ years ago and I wonder if I had been more cooperative would we have more information on mosaic Down syndrome now? What about complete Down syndrome? Do my son’s mixed chromosomes hold the key to the questions we all ask about our “chromosomally enhanced” children? 

Imagine a different world. One without any research at all. Your child is born and they discover that there is a difference in their physical characteristics. That alone allows them to tell you that your child has Down syndrome. However, this is as far as they can go with their information because there is no research on Down syndrome, so there is no information. Yes, they can tell you of the other babies that were born with this. And, they can tell you that more than likely your child will not live past the age of 10, since there is no treatment or surgery for the heart defect or the thyroid condition that your baby was born with. They tell you to put your child in an institution to die and forget you ever had that tiny bundle of joy. Because since there is no research, the doctors don’t know about the treatments, the surgeries or the benefits of keeping your child at home to raise and love and teach. And, without the research, these children do die by the age of 10, if not far before that.

And, of course, without any research, a child with mosaic Down syndrome would never have a diagnosis. They would go on with developmental delays just slight enough to not get the important therapy that they need, and like the children with complete Down syndrome, most would not live past the age of 10. 

Imagine being told that your child has a genetic disorder that they know nothing about. Imagine being told that there is no treatment, no help, no ideas, and no future for your child. This is what life would be like if there was no research for Down syndrome. This is what it was like for me two decades ago when my son was first diagnosed with mosaic Down syndrome. 

Thankfully, in this new 21st century, there is research for Down syndrome and mosaic Down syndrome. Thankfully, we do know more about this extra chromosome than we have ever known before. Unlike most Advocacy organizations, we don’t look for a “cure” for Down syndrome, instead we look for “treatments” to help those with these extra chromosomes live long, fulfilling lives. 

Although we do know more than we ever have before, there is still a lot more to know about the 21st chromosome and all that it holds. Without more research, we will never know more and we will never find the right treatments to help these individuals.

But with YOUR help we can do this! 

International Mosaic Down Syndrome Association funds important research studies that focus on both complete and mosaic Down syndrome. We carefully seek out research that we know is important to the growth and development of individuals with this extra chromosome and their families. You can be a part of this cause by making your own personal page telling your friends and family why Raising for Research is so important to you. This page allows you to add pictures and videos, you own personal story, and raise money for this important cause. Raising for Research ends on Oct 31.

Please Click Here to make your page today!

 “Building Bridges for Down Syndrome” 4^th Biennial Research & Awareness Conference 2009

Parents of children with Down syndrome (Ds) are universally concerned for the wellbeing and treatment of their children. In 2008 The National Institutes of Health (NIH) developed a research plan to advance understanding of Down syndrome and speed development of new treatments for the condition, the most frequent genetic cause of mild to moderate developmental delays and associated medical problems. The plan set research goals for the next 10 years that build upon earlier research advances fostered by the NIH. This goal will help families and individuals with Ds. However, with the busyness families of children with Down syndrome experience from therapy and doctor appointments to school activities and after school sports families rarely have the opportunity to participate in Down syndrome research.

The Down Syndrome Association of Greater Cincinnati (DSAGC) is hosting “Building Bridges for Down Syndrome” the fourth Biennial Research & Awareness Conference presented by the International Mosaic Down Syndrome Association (IMDSA) on July 10-12 in Sharonville, OH at the Sheraton Cincinnati North Hotel & Coco Keys Indoor Water Resort. Families will have the opportunity to participate in various survey and non-invasive research activities with many leading researchers in the Down syndrome field.

Kristy Colvin, President of IMDSA explained, “Families are busy and researchers have too few participants. By bringing families and researchers together in one place to participate in these studies, we are enabling both communities to come together to learn more about Down syndrome.”

        Connor Gifford

In addition to the research, families and professionals will have the opportunity to learn more about all aspects of Down syndrome throughout the weekend. Over 30 of the nation’s top Down syndrome experts will be on hand to present various workshops in this life-span conference. The event will kick off with Keynote speaker Self-Advocate/ Author  Connor Gifford and Congresswoman Cathy McMorris Rogers who began the Congressional Down Syndrome Caucus after her son, Cole was born 2 years ago with Down syndrome.

Congresswoman Cathy McMorris Rogers and Family

As a family event, children with DS (and siblings) ages 2-12 will have the opportunity to learn from a variety of presenters who will offer fun and learning activities from Tumblebus and Karate to Stranger Danger and Dealing with Bullies. Children will be supervised by students in IMDSA’s Student Learning Program. This program allows university students interested in a career that serves those with Ds the opportunity to learn what their text books do not teach them about Down syndrome. Teens and Adults with DS (and siblings) will have the opportunity to learn a wide variety of topics from budgeting and relationships to Tae Kwon Do and Art with 20 interactive workshops throughout the weekend to choose from.

Additional events for the weekend will include the Friday Night Family Reunion & Silent Auction with entertainment from The Amazing Portable Circus and Self-Advocate’s Sujeet Desai, Tim Colvin and Casey Morton and the Family Awards & Celebration Banquet & Dance with self-advocate Jennifer Katz and Comedian/Musician Dan Kulp.

Early registration will end on June 26^th. Late registration will be available at the door.  For more information and how to register for this event visit www.imdsa.org or call IMDSA at 888-MDS-LINK or DSAGC at 513-761-5400

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

Parents of children with Down syndrome (DS) are universally concerned about the wellbeing of their child’s health, future, and connecting with other DS families.  The Down Syndrome Association of Greater Cincinnati (DSAGC) hosts “Building Bridges for Down Syndrome” the fourth Biennial Research & Awareness Conference presented by the International Mosaic Down Syndrome Association.  (IMDSA)

The term Down syndrome 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 one in every eight-hundred 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.  Attendees of this biennial research and awareness conference are empowered with information and 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 (and siblings) will learn everything from how to manage a budget to relationships and friendships in the Teen & Adult conference.  Children ages 2-12 with DS (and siblings) will learn a variety of subjects from Acting and Puppetry to Bullying and Stranger Danger in the Kid Konference. While students interested in a professional career pertaining to DS will supervise these youngsters to have a better understanding of what DS really means for the individual.   Together families and professionals will enjoy the Friday Night Family Reunion & Silent Auction with entertainment from The Amazing Portable Circus and Self-Advocate’s Sujeet Desai, Tim Colvin and Casey Morton.

At the 2007 conference held in Richmond, VA, attendees said, “IMDSA’s Conference is like no other I have ever been to.  You have a sense of family the moment you step through the doors.  Everyone is welcoming and I learned so many things from all the speakers!” 

Join IMDSA & DSAGC Friday, July 10 through Sunday, July 12 at the Sheraton Cincinnati North Hotel and Indoor Water Resort in Sharonville, Ohio for a full scheduled weekend of information, family fun, socialization, and entertainment by Sujeet Desai, Dan Kulp, Tim Colvin, & Casey Morton.  Over 30 experts will discuss various topics that are 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 DS and researchers and professionals will also benefit greatly by attending.  There will be many great activities, research, workshops, and the highlight of the weekend with the Family Awards & Celebration Banquet & 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 now!  To register and for more information, www.imdsa.org

For Main Conference Schedule click here.

For Teen & Adult Conference Schedule click here.

For Kid Konference Schedule click here.

Yesterday , I described just a little of what it was like the day before and days-years after I had my son, Tim.  This morning when he awoke, I sang Happy Birthday to him. Tim, being the literal man that he is, told me it wasn’t his birthday till 3:45 pm. (the time he was born) Unfortunately, I was not home at 3:45 because I had to go to the store to buy Tim’s favorite dinner. Chili Enchiladas and Cheese Cake for desert. (yeah… it sounds gross to me too!)

So when Garrett and I arrived home we loudly sang Happy Birthday and it was official! My baby boy is 23 years old!

Twenty-three years can go by very quickly. It seems like yesterday that I was outside in the front lawn encouraging him to take his first steps, to say his first sentence, or when his older brother Arron, taught him to ride a bike. It doesn’t even seem that long ago when he graduated high school! And as I look back on the last twenty-three years, I see not only changes in Tim, but also changes in me.

Sure, I have a few more gray hairs than I care to share. Most definitely, my jeans size is no where near what it was back then. And the energy I had to chase around a hyper-active two-year-old is long gone! But there are other changes in me that are not as physically visible as the others.

Back when Tim was first diagnosed with mosaic Down syndrome, I felt very lost and extremely alone. I did not have a clue what mosaic Down syndrome was and I wanted more than anything to have something concrete that I could hold on to. Something that would tell me what this meant, what to expect, what to be worried about, what not to be worried about. I was so frustrated when there was no information out there. Yes, there was plenty of information on Down syndrome. And I tried to use that information to compare notes. But none of it really fell in line with what was happening with Tim.  He was either meeting his milestones way before what the books were saying or way after. He wasn’t having trouble in some areas that the books said he should have trouble in. And when I tried to attend a Ds meeting, I was shunned by the other parents. They made it clear that I did not belong.

So, I just raised him the best I could with the zero information I had. I didn’t know what to expect, so when something came up I dealt with it. Which really is not a bad way to live. If you worry about the unknown that may never happen, you will miss out on all the great things that are happening now!

However, as a parent, I know how important it is to have something in your hands that you can read and know that everything is going to be alright.

Over these past 10 years, I have gained a tremendous amount of knowledge on mosaic Down syndrome. I have spoken with countless doctors, researchers and the real “experts”-parents and individuals with mosaic Down syndrome. I have asked the hard questions and insisted upon answers that I could easily understand.

Over these years, it has always been my goal to make sure that no parent ever feels alone, as I did, in raising their child with MDS. We at IMDSA have accomplished that goal! Every family knows they are part of a much larger family. When one family is sad, we are all sad. When one family is happy, we are all happy! But, there is still so much that families need to better understand mosaic Down syndrome. They need the concrete information. They need something to hold on to-to open up and refer to when they have a problem or a question. They need information and they need more than just a blog or a research paper. Families need to know what mosaic Down syndrome is, what it means, what to expect, and what they can do to help their child become the best person possible!

They need what I so desperately wished for 21 years ago when I received the diagnosis for Tim.

I know this is “Taboo” for writers to do this. But, I am doing it out of my faith in God. Because I know that He has lead me over the years to do this and with His help I can accomplish it! So, although authors are not supposed to announce things such as these I am going out on a limb here and hope I don’t hang myself completely!

I am in the process of writing a book about mosaic Down syndrome.  I am half-way finished now and after the conference I will devote the majority of my time to this book. I will still blog every now and then, so please stay with me and if you are subscribed please don’t leave, so when I do write, you wont miss anything.

I want to thank my loyal readers here for all your questions this past year. You have helped me grow and helped me learn even more. I am confident that with God’s help, I will be able to bring you the information that you need to help someone with mosaic Down syndrome. This person may be your child, your patient or client, or yourself. I will update you as I can and of course continue writing more about our upcoming conference in Cincinnati! (I hope to have schedules ready for the Teen and Adult Conference and Kid Konference by next week!

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!

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As I continue explaining this research conducted by VCU/MCV, I hope that if you have a question or even if you find this interesting, you will leave a comment, so I know that I am not confusing anyone.

A lot of people have a hard time understanding that with mosaic Down syndrome, the person can have a completely different percentage in the blood compared to the cells in the skin. For Tim, he has about 14% in his blood and 21% in his skin. What this means is those percentages have an extra chromosome 21 and the remaining cells do not. 

As I stated in previous articles, we have found that the higher the percentage in the blood, the more likelihood a heart defect would be present at birth and the lower the percentage of cells in the skin indicates a probability of a higher IQ.

However a person can have a completely different percentage in the skin and the blood. There are also some cases, although rare, some people can have the affected cells in one area (skin or blood) and not the other. 

To see the graph that shows the variation of percentages in the blood and skin cells , please click here it is on page 5 and you should be brought directly to that graph. (sorry, I could not put the graph on here to show you.)

In the newly released mosaic Down syndrome research conducted by VCU/MCV, their main focus was to discover if the percentages of affected cells in a person made a difference in health, development and IQ. 

What do the percentages really mean?  This has always been the biggest question parents seem to have. 

This research has answered some of these questions for us.

It was found that there was a significant connection to the percentage of skin cells (taken by a cheek swab or buccal sample) and IQ levels. After studying the group and looking at these cells, it was determined that the lower the percentage found in the skin meant a higher IQ level. 

This is good information to know and will help families to better understand what those mosaic Down syndrome percentages mean for their child. However, it is important to remember that IQ levels are not 100% accurate and although individuals with mosaic Down syndrome often have a higher IQ when comparing them to IQ levels in Down syndrome, this does not mean that ALL individuals with mosaic Down syndrome will automattically have higher IQ’s nor does it mean they are “better off” compared to those with complete Trisomy 21.

Here is an abstract of this part of the study.

Correlations Between Percentage of Cells With Trisomy 21 and Tissue-Specific Findings
Interestingly, a significant inverse correlation (r= -0.53;P=0.0094) was observed between the percentage of trisomic cells present in the buccal samples and the IQ scores of the mosaic propositi. Although a similar trend was observed between the IQ values and percentage of trisomic cells in the blood samples, this correlation was not significant (P=0.1998).

I know that you all are enjoying this research information that I am explaining. And, you are looking forward to me getting to the good stuff and get past all the technical stuff. And I promise that I will do that! However… It will have to be tomorrow.

Believe it or not, I actually have a life outside of the computer (sometimes) and unfortunately, my “other life” is making me wake up at 4am tomorrow morning! My youngest son, Garrett, has a field trip with his school band tomorrow and the bus leaves at 5am. So…. I need to go to sleep so when I am driving to the school at 4:30 in the morning my eyes are at least half way open. 

Please be sure to come back tomorrow when I begin explaining some of the really intersting findings the researchers at VCU/MCV found concerning the percentages and how this affects the health and development of those with mosaic Down syndrome.

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The Introduction of the mosaic Down syndrome research conducted by VCU/MCV is pretty self-explanatory. However, it is a lot of words and sometimes too many words can be overwhelming. So, I will break this down in a more simpler form so everyone can understand it.

Down syndrome is the most common “birth defect” (chromosomal abnormality) with 1 in every 800 live births. For those with “complete” trisomy 21 where every single cell has the extra copy of the 21st chromosome this is the most common form of Down syndrome and affects 90-95% of individuals with Down syndrome. 2-4% have translocation Down syndrome where a piece of the chromosome breaks off and attaches itself to another chromosome and another 2-4% have mosaic Down syndrome where a percentage of cells have the extra 21st chromosome and the remaining cells are unaffected. To better understand how to read karyotypes you can click here to visit International Mosaic Down Syndrome Association’s website to read our easy to understand explanation of that.

In the past, it has been difficult to conduct research on mosaic Down syndrome because of its rarity and the lack of technology needed to really look at these chromosomes. However, when IMDSA began working with these researchers, we brought participants to them either through our conferences or through mailings and were able to get 107 particpants for this study. With the help of NDSC , VCU/MCV was able to find participants with both forms of Down syndrome. The main purpose of this study was to find out if there was a true difference between mosaic Down syndrome and Down syndrome and if percentages in the blood and the skin and other tissue areas mattered.

Tomorrow, I will begin to show you these findings. Some were very eye-opening and others, not so surprising, but still the whole study is extremely educational and without a doubt will help you better understand what mosaic Down syndrome is and what to expect.

To read the actual introduction to this study read below. To see this research in its entirety, click here.

INTRODUCTION
Down syndrome is the most common chromosomal abnormality in live-born individuals, occurring at a frequency of about 1/800 live births [reviewed by Patterson and Costa, 2005]. Most (90–95%) individuals with Down syndrome have trisomy for chromosome 21 [Pangalos et al., 1994]. Two to four percent of individuals with Down syndrome have a trisomic dose of the long arm of chromosome 21 as a result of a structural chromosomal abnormality (translocation or isochromosome) [Pangalos et al., 1994]. Mosaicism is seen in another two to four percent of individuals diagnosed with Down syndrome [Hamerton et al., 1965; Richards, 1969; Mikkelsen, 1977; Hook, 1981]. Mosaicism is a condition in which an individual has two or more genetically distinct cell lines that develop from a single zygote [Nussbam et al., 2001]. In the case of trisomy 21 mosaicism and Down syndrome, affected individuals have both trisomic (47,XX,þ21 or 47,XY,þ21) and euploid (46,XX or 46,XY) cell lines. The primary goal of this study was to determine if there are correlations between the phenotypic traits and the proportion of trisomic cells present in individuals having mosaicism. An investigation involving individuals with trisomy 21 mosaicism can further our understanding of the mechanisms underlying the phenotype of Down syndrome since individuals with trisomy 21 mosaicism show a broad spectrum of clinical findings, ranging from traits typically seen in ‘‘complete’’ trisomy 21 (people having trisomy 21 in every cell) to that of a near normal phenotype [Finley et al., 1966; Shipe et al., 1968; Johnson and Abelson, 1969; Fishler and Koch, 1991; Bhatt et al., 1995].

Our knowledge of factors influencing the clinical outcome in individuals with MDS has been limited due to the relatively small number of cases of this rare condition that are available for study, with most investigators presenting either single case reports or findings from a small number of patients [reviewed by Papavassiliou, 2007]. These previously reported investigations were also accomplished prior to the advent of fluorescent in situ hybridization (FISH) techniques, and were thus limited to the study of metaphase chromosomes following in vitro culturing, the latter of which could potentially skew the levels of trisomy detected. Possible factors contributing to the broad spectrum of traits observed in persons with trisomy 21 mosaicism include (but are not limited to) variation in the proportion of trisomic cells present: (1) between individuals; and (2) from tissue to tissue within and/or between individuals. In this study of persons having trisomy 21 mosaicism, we quantified and compared the percentage of trisomic cells present in nuclei from both lymphocytes (cultured and uncultured) and buccal mucosa cells (uncultured). Thus, the level of trisomy was not only assessed in different tissues, but also from cells with and without the effect of in vitro culturing. The phenotypic profiles of the study subjects were also analyzed, using a latent class analysis (LCA), to determine if subgroups could be identified based on the patients’ phenotype, and if these distinct groups could be distinguished from one another based on their ratio of euploid to trisomic cells. The specific aims of this study were to test the following hypotheses: (1) The proportion of trisomic cells present in different tissues (blood and buccal mucosa) influences the phenotypic outcome associated with mosaicism for trisomy 21 in Down syndrome; and (2) Trisomic levels  in buccal mucosa cells are more closely correlated with phenotypic findings of ectodermal origin, while trisomic levels in lymphocytes are more strongly correlated with findings of mesodermal origin.

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