MOSAIC MOMENTS

23 years ago today I was lying on a narrow hospital bed waiting for my baby’s lungs to develop before delivery for the next day. The next day, was D-Day. This day would mark 32 weeks in my pregnancy. Throughout my pregnancy I had Placenta Previa-basically this means that my placenta was falling out. So, I was put on bed rest and when I continued to have trouble I was admitted indefinitely into the hospital and had been there for a month before my water broke-which marked my indefinite D-Day.

I was young-only 20 yrs old. It never occurred to me that babies died. It never occurred to me that having a premature baby was a dangerous thing. It never occurred to me that at 20 years old, I would come face to face with death-not just for my baby, but also for myself. And, it never occurred to me that my baby would be born with anything out of the ordinary.

Oh sure, I knew these things happened….to other people. 

So, 23 years ago today I lain on this hospital bed in a “semi-private” labor room in which I had various “room mates” for my three-day stay. I watched them come and go and it never occurred to me that within the next 24 hours my life would change forever. 

On May 19, 1986 I had a beautiful baby boy. I wasn’t able to see him till the day after he was born because I was too weak and far to sick from the loss of blood since I had refused a transfusion because of the high risk of AIDS in transfusions back then. 

Having a baby changes your life. This one definitely changed mine. I could say it was because I was near death. Or even because he was too.  But that is just where the story begins. It wasn’t life-altering at that moment. Probably because I was far too young to realize the true danger that we were both in. Even when my doctor came in to my room with tears in his eyes as he explained that I was dying and there was nothing more that he could do, it never occurred to me that I would actually die. And thankfully, only by God’s grace, I didn’t die. And neither did my baby.

The beginning of my life-altering moment came 2 years later with a blood test that revealed that my beautiful baby boy had a few extra chromosomes. The moment when they told me that he had mosaic Down syndrome and there was nothing in the literature; no book, no pamplet, not even a flyer, that could tell me what to expect with this diagnosis, my life changed. 

Many would think that my life changed for the worse. After all, I had no information, I had no one to talk to and compare notes, I had no support. But I had my “Mommy Instincts”. And as the years went by, I realized that raising a child with mosaic Down syndrome was no different than raising any other child really. Sure, we had to make up some rules as we went along! Definitely, I had a few Pity Parties throughout the years. But the thing I learned the most is, having a child with extra chromosomes is no different than having any other child. And I have others to compare it to! 

23 years ago tomorrow, my tiny 4 lb 4 oz baby boy was born via Emergency C-section. He had his Mommy’s dark brown eyes and was so tiny that his 6 inch high Teddy Bear was more like a Grizzly to his small frame. He loved to snuggle up to me and fall asleep while I rocked him gently in the squeaky old  wooden rocker in the “growers room” at NICU. I loved the way he would yawn and crinkle up his face like a miniature wrinkled old man. I loved the way he smelled when I held him and when I had to leave him I would smell my shirt for the rest of the day-just to try to stay close.

Now, 23 yrs later, that tiny baby is a grown man who takes care of his mom. He is always sensitive to my needs and jokes that he is amazed that I lived through his hyper-active years. He says that he is glad that he has mosaic Down syndrome because without it, he wouldn’t be the person he is today.

I know that if Tim did not have mosaic Down syndrome, I would not be the person I am today. I would not be as strong as I am. I would not have the knowledge that I do. I would not have the wonderful extended family that I have. And, International Mosaic Down Syndrome Association would not exist the way that it does. Families would still be left out in the cold wondering what this means for their children.

Tomorrow is my baby’s 23rd birthday. For this special day, I have a very important announcement that you may not want to miss.  

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 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.

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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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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Last week, we at International Mosaic Down Syndrome Association were given some very valuable information that I know many will find interesting regardless if your child has mosaic Down syndrome or Down syndrome. This information comes to us from the researchers at Virginia Commonwealth University/Medical College of Virginia. (VCU/MCV)

In 1996, the researchers at VCU/MCV gave parents of children with mosaic Down syndrome the first glimpse of what mosaic Down syndrome truly meant for their children with their first publication on their findings in the research study they conducted to find the differences in mosaic Down syndrome compared to Down syndrome. You can find that booklet here.

However, parents still had more questions. Like what do the percentages mean? And compared to Down syndrome: Does mosaic Down syndrome mean a higher IQ? Do people with mosaic Down syndrome have less health problems? Do babies with mosaic Down syndrome develop milestones earlier? Why don’t people with mosaic Down syndrome look like they have Down syndrome?

The team of researchers continued to look to find answers to these questions, and have once again answered many of these questions. There will always be more questions, but this gives parents of children with mosaic Down syndrome and parents of children with Down syndrome more information than we had before. 

You can find this research information on our website by clicking here.

The head of this research study, Dr. Colleen Jackson-Cook will be speaking at IMDSA’s Down Syndrome Research & Awareness Conference in July! If you have never had the opportunity to hear Dr. Jackson-Cook, you will not want to miss this talk! She is the leading expert in the world on mosaic Down syndrome and can explain all their findings in easy to understand terms.

A lot of this information will more than likely be a bit too complicated to understand. So, for the next few days, I will break it down for you and explain this in layman’s terms so that you will better understand what all this means.

Be sure to not miss any of this explanation on this new mosaic Down syndrome research! Enter your email address in the subscribe box at the top right column of this site and you will receive an email update when new posts are written. 

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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!