MOSAIC MOMENTS

I have written two articles today because I just had to share this moment in the Colvin House with you. My other article is just below this one, so be sure not to miss it! 

Last night Glenn and I were sitting on our back porch winding down from an emotional evening of our nephew’s high school graduation. Garrett came to join us on the porch because he was still hyped up from all the excitement of the evening.

Somehow, we got on the topic of heart attacks. (Our dear friend Rich is currently in a medically induced coma after a category 4 heart attack, so this has been in the forefront of my mine) I told Glenn and Garrett if you are ever alone and having a heart attack you should take deep breaths and cough hard to keep your heart pumping until you can get emergency services to help. (I don’t know if this is true… It was something I read.) Then, Garrett started poking at his stomach and I jokingly asked him if he was giving himself the heimlich maneuver. Garrett had heard the term, but didn’t really know what it was. So, I showed him how to do it and also told him if he were alone he could stand at the back of a chair and use the chair to push his diaphragm to get the object out.

Garrett looked at me thoughtfully and asked, “How do you know all this stuff?”

I thought quickly and remembered a cute email that I had received a while back about The Mommy Test. The email went like this….

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A mother and her 4 yr old daughter were walking along and the mother was explaining things to her daughter as she asked questions. When the mother answered the last question the daughter asked her “How do you know all this stuff?” The mother replied, “It is on The Mommy Test” all mommy’s have to take this test to become a mommy. The little girl thought about that and said, “I see! If you don’t pass the test, you have to be a daddy!”

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So, I told Garrett that it was on The Mommy Test and that was why I knew all that stuff. Garrett is 12 and usually not so gullible, but in his defense, I don’t usually tease him this way and am usually very honest.

“Really?” he asked.
“Yes!” I told him.
“So what if you fail The Mommy Test?” he asked
“What do you think happens?” I asked him.

He thought for a moment and said….

“You have to be a dad!”

 LOL I laughed for the next hour about that one!!!!!

I think it is very important for families to understand exactly how Down syndrome and mosaic Down syndrome happens. In the back of our minds, we always have that little niggling voice that says “remember when you did….. maybe that is why your child has MDS or Ds”. Everyone of us has heard that voice and even though we know that we did nothing to cause our children to have extra chromosomes, sometimes that voice still whispers in the back of our conscience.

The researchers at VCU conduct ongoing research for mosaic Down syndrome. In 1996 they published their findings in a booklet for parents and finally parents had the first piece of information to tell them what MDS means for their child. In this study how mosaic Down syndrome happens was explained.

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Basically, what this research states is that in 70% of the cases of MDS happens during and after conception when the cells are dividing and making new cells. During this process of cell division, the chromosomes do not break away from their twins and this results in having an extra copy of the 21st chromosome in their cells.

For Down syndrome, this cell division happens during conception. As the cells divide they get confused and wind up with an extra copy of the 21st chromosome in every cell.However, for mosaic Down syndrome, there is a second cell division after conception and as those cells are dividing again the result is a percentage of cells with two 21st chromosomes and a percentage of cells with three 21st chromosomes. 

In the remaining 30% of cases, MDS happens with just one cell division. However, researchers have yet to find the reason for any of these cell divisions.

VCU says, “Because translocation DS is relatively rare, and Mosaicism for translocation DS is seen even less often, it is hard to explore how translocation Mosaic DS occurs.  It is likely that similar sequences of steps also lead to this condition, meaning that there may be a single change after conception, or changes both before and after conception.”

International Mosaic Down Syndrome Association is working hard with VCU and other researchers to better understand everything there is to know about mosaic Down syndrome. We realize that many aspects of MDS are a real mystery and we also feel that with research in MDS we can discover many aspects of Down syndrome as well.

Our most important mission is to ensure that families have as much information as possible and we know that through our research programs we can gain that information! If you or a loved one has mosaic Down syndrome and are interested in participating in research, just contact us and we will be happy to connect you with your researchers!

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So, back to that small voice in the back of your head that says, “this happened after conception! I had a sip of wine before I knew I was pregnant!” You have NO control over cell division!

I once read where a mother was explaining to her six year old son about his new baby sister and that she had Down syndrome. The thoughtful, little boy asked how many people had Down syndrome and the mother explained the numbers to him the best she could. After thinking for a moment, he asked, “So, not everyone gets to have Down syndrome?” Her reply was “No, not everyone gets to have Down syndrome.” Gleefully, he jumped up and said, “Aren’t we lucky!”

It is just a matter of perspective….. Yes, we are very, very lucky!

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If you are not sure if your child has MDS, but you think they might… come back tomorrow when I begin explaining the diagnosis of MDS and why it is such a hard to diagnose syndrome.

Yesterday I wrote about reproduction in MDS and Ds. Yesterday was also the last day of school! So, as I was writing my article, I had a very excited 12 yr old bouncing through the house planning his entire summer vacation. This involved lots of phone calls (we are officially on the verge of teenage years!) and lots of other 12 year olds, in and out of the house. Which resulted in my yelling “Close the Door!!!” about a million times! Awwww…… summer is officially here! Hopefully I will still be fully intact and with all my mental capacities about me by August. However, spending the summer in a nice, quiet, hospital does have its appeal!

So, as I was writing my article and yelling “Close the Door!!!” a million times, I failed to include an important part of this article! I am grateful to Leonora for emailing me and pointing this out. I have included Leonora’s message here:

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As for the business of having children,  if someone with DS is married to someone who doesn’t have DS, then half of all the babies conceived will have DS but four fifths of those pregnancies will fail, so, for each pregnancy,  if you have DS you end up with only a 1 in 10 chance of giving birth to a child with DS.  But I found miscarriages very upsetting, and I don’t know if I would want to take on that level of risk.  One can also consider pre-implantation embryo selection, if one has no moral or emotional problems with that.  If and when my son wants to have children,  I will want him to be able to consider those options.

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Leonora also gave me information on a woman with Down syndrome who had a baby in Brazil. I would like to include that here as well:

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Woman with DS gives birth to a little girl in Brazil (Socorro, Sao
Paulo)

Maria Gabriela, 27, has been living with her husband, who has a mild intellectual disability, at her mothers house for 3 years.

On the 20 Valentina, who doesn’t has DS, was born 3 weeks early, with 2260 kg and 42 cm. The girl is healthy and Maria Gabriela said she was very moved when she looked at her child’s face for the first time. She also said she is ready for the challenge of raising and educating her daughter.

Th grand mother said the child is a blessing and that the couple would have every help they needed and that everyone in the house will help raise her. She affirmed that she is sure her daughter will fill her granddaughter with love and care.

The doctor said the delivery should set an example. Everything went fine, with no complications.

READ the original article, in Portuguese, from Brazil

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That was a great story! It goes to show that Nothing is impossible just because you have Down syndrome and with love and support anything can happen!
Thanks Leonora!

So, I wanted to be sure I gave you these updates before I moved to the next subject. Tomorrow, I will begin talking about how MDS happens and how it is diagnosed. (this series will be very interesting, especially to those who wonder if their child with T21 actually has MDS) 

Last year at IMDSA’s 2007 conference we had the wonderful opportunity to meet with and listen to Melissa Bishop. Melissa is a remarkable young woman who has MDS. She and her husband, Adam run a restaurant, own their own home and they have a little girl of their own who does not have Down syndrome. Melissa, without even trying, is a huge inspiration to many families throughout the world who have younger children with MDS and Ds.

Often one of the biggest questions that comes up for parents of children with MDS is if their child will be able to become parents.

It is commonly told that men with Down syndrome can not father children, however in the same sentence of that statement, it is said that there has been a few accounts of men with Down syndrome fathering children. This can be very confusing to someone trying to figure it all out!

I have a couple of ‘theories’ about this statement.

1. The men who fathered these children had mosaic Down syndrome but were misdiagnosed with T21.

2. Men with Down syndrome can father children, but because this information was reported quite a while back, it was in the day when many individuals with Down syndrome were not accepted into society, so they didn’t get the chance to form relationships resulting in parenthood.

3. Down syndrome or not… Some men are fertile. Some men are not fertile.

Those are just theories and I am not a doctor or scientist, so you do with it what you want.

It is considered that a woman with Down syndrome would have a child with Down syndrome because of the 100% of affected cells in their body. If anyone knows of a woman with Down syndrome who has a child (with or without Ds) I would love to meet them! Please send them my way!!

However, when it comes to mosaic Down syndrome, there are a few differences to consider.

Because a person with MDS has a percentage of affected cells, those cells could be located anywhere in the body. If a woman has MDS and the affected cells are located in the reproductive organs, then the woman has a better chance of having a child with Down syndrome. If they are not located in the reproductive organs, then the chance is higher for the child to not have Down syndrome. The same holds true for a male with mosaic Down syndrome.

Over the years, I have met a good handful of families who have had more than one child with Down syndrome only to discover that they (one of the parents) had mosaic Down syndrome and didn’t know it! It makes you wonder how many are out there whose children do not have Down syndrome, yet they have MDS and do not know it.

This brings up the question of how mosaic Down syndrome happens and how it is diagnosed. Tomorrow, I will begin explaining this.

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I added new pictures to Our Family!
Have a look at some more of life in the Colvin household!

When a person has Down syndrome (Ds) there are many physical characteristics that are present. These characteristics often alert doctors that the baby has Down syndrome when he or she is born.

The most prominent features are:

• Face appears flat
• Epicanthal folds
• Eyes slant upwards
• Protruding tongue
• Single crease across palm of hand
• Excess skin or webbing around neck
• Straight, fine hair
• Dry skin
• Small, low set, ears
• Space between first and second toe
• Brushfield spots (white flecks on colored part of eye)
• Short limbs
• Short fingers and toes

However, because there is a percentage of cells without the extra 21st chromosome in mosaic Down syndrome (MDS) these features are less prominent or not visible at all. This is why, in many cases, individuals with MDS are not diagnosed until the age of 1-4 years old.

The biggest misconception about mosaic Down syndrome is that because the individual does not look like they have Down syndrome, they must be ‘higher functioning’ compared to Ds. This is nothing more than a misconception.

The physical characteristics are not present only because there is a percentage of non-affected cells and/or the affected cells are not in the area that causes the physical characteristics to take place. The physical appearance has nothing to do with the development of a person.

For instance, I have a learning disability called Dyscalculia. It causes me to switch numbers such as 75 and 57. By looking at me, you would not know that I have this learning disability. (unless you watch me sweat during checkbook balance time! lol)

Another interesting fact about MDS and the physical characteristics is as a person grows older, the physical characteristics associated with Down syndrome often fade away in the person with MDS. The reason for this is because the person with MDS has a percentage of unaffected cells. The unaffected cells can reproduce at a faster rate than the affected cells. As these cells are reproducing, the physical characteristics tend to fade away.

IMPORTANT: This is not in all cases! There are many cases where the physical characteristics do not fade away. This does not mean that they are higher or lower functioning (because it has nothing to do with development) We are still working with researchers to understand this all, but in time, we hope to have more answers.

The next question I always get after the above statement of cell reproduction is, “Can all the affected cells go away?” The answer is no. Although a person’s percentage can fluctuate, the extra chromosome is still there and will never go away completely. This also doesn’t mean that their development will fluctuate.

I hope this helps you understand this common misconception. I invite you to come back tomorrow when I explain reproduction and how adults with MDS have children with and without Down syndrome.

Yesterday I showed you the differences in development for mosaic Down syndrome and Down syndrome. We learned that there really wasn’t that big of a difference in the majority of children other than the time the child developed the milestone. However, in the chart provided, you could see that children with mosaic Down syndrome (on average) were talking at a later rate than those with Down syndrome. In an earlier article I had touched on this topic, however I would like to talk a little more about this to help you understand.

According to research the average age for children with mosaic Down syndrome to speak their first word was 19 months old, while children with Down syndrome spoke their first word at 17 months old. IMDSA is working with researchers to better understand this. Individuals with Down syndrome have trouble with articulation; mainly due to low muscle tone. In our most recent research (not yet published) we have found that a large majority of children with MDS have a speech problem called Apraxia.

According to The Childhood Apraxia of Speech Association of North America:

“Childhood Apraxia of Speech is a motor speech disorder. For reasons not yet fully understood, children with apraxia of speech have great difficulty planning and producing the precise, highly refined and specific series of movements of the tongue, lips, jaw and palate that are necessary for intelligible speech. Apraxia of speech is sometimes called verbal apraxia, developmental apraxia of speech, or verbal dyspraxia…The brain must tell the muscles of these “articulators” the exact order and timing of movements so that the words in the message are properly articulated. Finally, the muscles must work properly with enough strength and muscle tone to perform the movements needed for speech.”

Basically, what this means is the brain has trouble telling the mouth to form words. However, we are finding that a large majority of children with mosaic Down syndrome are loosing words after they have first spoken them. We hope that with further research we will be able to better understand this and in turn find specific help for these children. 

Having a child with Apraxia can be very frustrating for both the parent and the child. Disability Solutions has some great articles on how to help a child with Apraxia.

Tim did not have Apraxia, but he did have speech delays associated with Down syndrome. He had trouble pronouncing his words and was delayed in making sentences. Thankfully, with a lot of hard work, his speech blossomed and he now has no delays at all. (trust me…. he talks fine! the problem is turning him off! lol)

The most important thing for everyone to remember is that although a child or adult may have a speech delay, this does not mean they can not understand what you are saying to them. When talking with families, I find this is a large problem for those who live and work around a child with a speech delay. So, a note to those people who don’t understand that….They do understand what you are saying even if they can’t express it!

I hope this helps you better understand the similarities and differences in development when comparing mosaic Down syndrome and Down syndrome.

Tomorrow, I will talk about the misconceptions of the physical characteristics in those with MDS. Why don’t they look like they have Down syndrome? Does this make them ‘higher functioning’?

Yesterday I explained the similarities in development for MDS and Ds. Today I will help you understand the differences in these developmental milestones and why they take place.

In the chart below, you can see that on average children with MDS reached their developmental milestones (except speech) at a faster rate than those with Ds.

Milestone	mDs	Ds
Rolled Over	4.65 months	5.06 months
Sat alone	8.59 months	9.44 months
*Crawled	11.24 months	13.89 months
*Walked Alone	20.54 months	24.33 months
*Spoke first word other than mama/dada	19.13 months	17.94 months
Drank from cup alone	17.00 months	19.64 months
Walked up stairs	24.77 months	34.20 months

* = statistical difference between mosaic and non-mosaic groups
IMDSA recognizes that this is an average age and in no way an absolute guideline for when individuals with mosaic Down syndrome or Down syndrome will meet their milestones

I think it is important to realize that each child is an individual first and foremost. Each of my boys were very different in reaching their milestones and they sat, crawled, walked and talked when they were good and ready and not a moment before!

I wish that I had this chart when Tim was young. If he were diagnosed as a baby and I had this chart, I would not have been as frustrated about his delays as I was.

If your child has MDS and isn’t walking before 20 months, then you know that is ok because according to this chart, they are still on track developmentally! If your child has Ds and isn’t walking before 24 months, you know you don’t have to worry because you know they will be walking soon! I think it is human nature for us to want to compare our children’s milestones, even when we try not to. And that can become very frustrating for the young parent who watches other children meet these milestones at a faster rate. So, if you must compare, use this chart according to your child’s diagnosis. This will help you to know that your child ISon track! In the world of MDS and Ds, your child isn’t delayed at all! It is just a matter of perspective…

The reason why children with MDS meet these milestones at a faster rate than those with Ds is very simple. Individuals with MDS have a percentage of cells with the extra 21st chromosome and those cells could be anywhere in the body. So, if the affected cells are located in the muscles, then the child will have low muscle tone which causes delays in sitting, crawling and walking. But, if there is only a percentage of cells in the muscles, then the delays may not be as prominent as for someone with 100% of the affected cells.

The majority of children with MDS do experience these delays, however there are many who experience no delays at all. It all depends on where the affected cells are located in the body. Unfortunately, this is another one of those “wait and see” kind of things.

I think the most important thing to remember is when your child graduates high school and walks across that stage, no one will ask him when he took his first steps. And when she interviews for her first job, no one will ask her when she spoke her first words. In the grand scheme of things, it isn’t that important when your child meets his or her milestones. S/he will meet them in his/her own time.

One point I didn’t discuss here is the noted difference in the speech delays for MDS. According to our chart, you can see that children with MDS often speak later than those with Ds. Tomorrow, I will discuss these differences and some new research that IMDSA has recently participated in. You may be surprised at these significant differences!

In my last article, I explained that the reason why people with MDS have similarities to Ds is because they have an extra copy of the 21st chromosome (also found in Down syndrome) in a percentage of their cells. Because of this extra chromosome, individuals with MDS can experience the same issues as a person with Down syndrome.

Another issue people with MDS and Ds both experience is Developmental Delays.

When compared to their siblings, children with mosaic Down syndrome can be delayed in the same milestones as one with Down syndrome.

Below is a chart to help you understand the delays that are present and the average age these children reach these milestones. These findings were published by the researchers at Virginia Commonwealth University in their 1996 publication. Research is still being conductedto better understand MDS and Ds.

Milestone	mDs	Ds
Rolled Over	4.65 months	5.06 months
Sat alone	8.59 months	9.44 months
*Crawled	11.24 months	13.89 months
*Walked Alone	20.54 months	24.33 months
*Spoke first word other than mama/dada	19.13 months	17.94 months
Drank from cup alone	17.00 months	19.64 months
Walked up stairs	24.77 months	34.20 months

* = statistical difference between mosaic and non-mosaic groups

IMDSA recognizes that this is an average age and in no way an absolute guideline for when individuals with mosaic Down syndrome or Down syndrome will meet their milestones .

As you can see, each of these groups do experience delays. Because of these delays individuals from each group can benefit greatly by Physical Therapy, Occupational Therapy and Speech Therapy.

However, in the research study you can see that there are some significant differences between the ages that the milestones were reached.

Tomorrow, I will talk about those differences and help you better understand why the differences take place and what this means for a child with mosaic Down syndrome.

The number one question that we get at IMDSA is, “What is the difference between mosaic Down syndrome & Down syndrome?”. There are almost as many differences as there are similarities. Today I am going to discuss the similarities in Health Conditions and in order to better understand these similarities, it is important to first understand why the similarities happen.

When a person has Down syndrome, they have a third copy of the 21st chromosome in 100% of their cells.

When a person has mosaic Down syndrome, they have a percentage of cells located in their body that have a third copy of the 21st chromosome. This percentage varies from person to person and can be located throughout the body or in specific areas of the body.

Because the individual with mosaic Down syndrome has a percentage of cells with the extra 21st chromosome, they have the same chance of having the health issues, developmental delays and cognitive delays as a person with Down syndrome. It all depends on where these cells are located in the body, however, without a biopsy it is impossible to know exactly where these cells are located, so it is a “wait and see” kind of thing.

Below is a chart to help you understand the most common health conditions associated with Down syndrome and the percentages that each condition affects.

Characteristic	Down syndrome+	mosaic Down syndrome*
Heart Defect	~50%	~45%
Digestive Problems	~12% #	~33% #
Thyroid Disease	~10-40%	**
Leukemia	increased risk	increased risk
Atlantoaxial Instability	14%	**
Corrective Eyewear	***	42%
Inner Ear Infections	***	47%

+http://www.aafp.org/afp/20010915/1031.html
+http://www.altonweb.com/cs/downsyndrome/index.htm
* http://www.imdsa.com/VCU.htm  (this study was conducted with 45 participants. Now that we have a larger amount of research participants, the numbers may go higher in these percentages)

** information reported, however there were not enough in this study to indicate a significant amount to gain a percentage
*** information reported, however no percentage was available
# In the Ds population this number was reported for corrective surgery for specific digestive conditions.
# In the mDs population this number was reported for all digestive conditions.

Further research is needed to better understand these health conditions related to both Down syndrome and mosaic Down syndrome. However, it is important to take note that both populations can experience the same health conditions. Additionally, it is important to remember that not ALL individuals from either population experience these health conditions. With more research, we will be able to better understand why some have these health conditions and others don’t.

So… I hope this helps you understand that health wise, people with MDS are “More Alike Than Different” than those with Ds.

Tomorrow, we will learn about development comparisons in Ds and MDS.

The National Down Syndrome Congress has launched a wonderful campaign this year educating others about Down syndrome. The PSA campaign is called We’re More Alike Than Different and features several young adults with Down syndrome to show that they are “More Alike Than Different” than those without an extra 21st chromosome.

What many do not know is that two of the commercials featuring Christi Hockel show what it is like to have mosaic Down syndrome. Christi is a wonderful young lady whom I feel privileged and honored to know. She is full of enthusiasm and has a great future ahead of her!

We would definitely like to see more of these PSA’s throughout the country! This is a wonderful way to spread the message that people with Down syndrome (of any kind) are more like everyone else. They have the same feelings, the same wants, the same desires, and the same goals as everyone else! If you would like to see these PSA’s in your area click here for more information on how to do that.

For the next few days I am going to discuss a different look on “We’re More Alike Than Different”. In our world of mosaic Down syndrome, it seems as though we are consistently trying to convince the Down syndrome community that people with MDS have most of the same issues as those with Down syndrome. Some people get that without a problem, where others struggle in many ways to understand.

So, please join me tomorrow to learn about the similarities between mosaic Down syndrome and Down syndrome. Anyone touched by mosaic Down syndrome or Down syndrome will benefit from this discussion!