MOSAIC MOMENTS

Wow! It has been quite a week!

At the first of the week we announced our Genes Day in honor of World Down Syndrome Day.  In just five days we have seven teams and our top fundraiser is Treston’s Friends who have already raised $35! Way to Go Treston!

If you haven’t made a team yet, or have no idea what I am talking about, please visit our site here , so you can find out how you can spread awareness in your community about Down syndrome and mosaic Down syndrome!

I think I will begin highlighting the Genes Day top fundraiser at the end of each week here on my blog. That way, you get to show off your beautiful child and brag a bit about your fantastic fundraising skills! So… this is just one more reason for you to make a team!

Most of the US had crazy ice and snow all week, and even here in Texas we got our fair share! We had a bad ice storm earlier in the week  and everything was frozen for a couple of days. But not nearly as bad as the North and the NorthEast, so I am not complaining! If you live where there is ice and snow, please keep it to yourself.

In the midst of all our conference planning, I found myself again explaining that this is a Down syndrome conference! I don’t quite understand why it is so confusing to so many. Well… I do a little, because International Mosaic Down Syndrome Association is for mosaic Down syndrome, but I have written it in every form of writing, every brochure, all our websites, anything that I write…. AND, the Down Syndrome Association of Greater Cincinnati is hosting the event. So… just in case there is any more confusion (and I know that there still will be)

THIS IS A DOWN SYNDROME CONFERENCE! 

Because people with mosaic Down syndrome have the extra chromosome found in Down syndrome they do have all the same issues in development, learning and health, even if it may be in some cases a different degree of problems, they still can have these problems, so when we have our conferences we invite all the same speakers that anyone would invite to a Down syndrome Conference.

Our conference is on July 10-12 in Cincinnati Ohio. To find out all about it you can visit our conference page by clicking here.  We are planning for 34 speakers at the main conference and are still finalizing our planning for the Youth and the Kid conferences. If you would like to view the speaker list for the main conference along with topics for each workshop, you can click here for that. (yeah… I know… the speaker list is very exciting!)

In the midst of this all, I worked to sell my husband’s truck to pay bills. Apparently we really are in a recession and no matter how low the economy gets, the bill collectors still like to have their money!

Then, if all of that was not enough, Tim is co-conspiring with my dad and apparently they made a deal together that my dad would teach Tim to drive! Tim can drive and has off and on with my dad over the years. I just worry about slow reflexes if someone was to brake suddenly, or his ADHD taking over and he sees a butterfly and decides to watch that instead of the road! Yeah… I am probably being overprotective, but can a mom really be over protective? I feel like it is my job to keep him safe.

Oh well…. I can see hair coloring in my near future!

My dearest friend, Dr. Sindoor Desai, has a remarkable son, Sujeet, who is an amazing musician who plays 6 musical instruments. He is a black belt in Tae Kwon Do and was the youngest person to ever receive the high rank that he has accomplished in this Martial Art. He is married and living with a great support system in place for him and his wife, Carrie. When I first met Sujeet so many years ago, I was struck by his great personality and how he wrestled with my youngest son, Garrett who thought that anyone 20 year old and up were fair game for wrestling.

Over the years, Sindoor and I have become close friends. We have the kind of bond that we know we can share any concerns we have with one another about our kids or life in general and not worry about judgement. Last year, Sindoor and I set up an online support group for parents of children with Down syndrome who are of Asian decent. This is a wonderful group and families come together daily to share their concerns and accomplishments knowing that the other families can understand their situations because not only do they have children with Down syndrome, they also share common beliefs and cultures.

Last week, I got a Google Alert about a newspaper article that was highlighting Sujeet about a musical performance that he was about to do. I sent it along to Sindoor and she sent it along to friends and family.

The Daily Orange reporter Edward Paik, no doubt was trying to report a good, positive story about Sujeet and how great his musical abilities are. However, in his attempt to do so, he did not use correct “First Person” language. He said that Sujeet “suffered from Down syndrome” He says that Sujeet’s mind is limited. I know Sujeet…. his mind is far from limited!

Parents and supporters have been leaving comments on this article all week long educating him on the importance of First Person language. It isn’t that the article is written poorly. And, it isn’t that the reporter was trying to be harsh. He just didn’t go that extra step that parents and advocates appreciate-actually LEARNING about Down syndrome and the individual before reporting on it!

I suggested to him that he take the time to know Sujeet. Then, he would know that the only thing that Sujeet suffers from is ignorance of the world.You can read my paper on People with Down syndrome Suffering here.

Go Here to read the Daily Orange paper and leave your comments.

As you know, I have been blogging here for almost nine months now. Today.com is a great company to blog for, because not only do you get a great interface to blog with, you also have a whole support system through their online forum full of great people.

The best part of blogging with Today.com is that you get paid for your blogs! The way I see it, if you are going to blog, you might as well get money for it! Right?

There are so many blogs about Down syndrome out there that I would like to help you all to continue with your great blogs and help you to make money too! This is a totally legitimate business without any underlying agenda or fine print conditions. They have different ways they pay you for different blogs. Some get paid per unique visit only. While others, like me, get paid per unique visit and per blog. I make around $100 a month blogging. It isn’t alot, but it is better than making nothing at all for blogging! And, $100 goes a long way during grocery shopping!

If you are already blogging about Down syndrome…. Don’t blog for Free!

If you are not blogging, consider doing it… it is very easy and is actually a lot of fun!

And, you don’t just have to blog about Down syndrome. You can blog about anything at all! Today.com has many different categories so anything you are interested in they have a place for it!

If you click the above picture, this should take you to the place you need to be to sign up. If that doesn’t work, then click the square banner to the right that says Get Paid To Blog Today.com

Imagine if we had a whole Down syndrome channel of our own here at Today.com! Think of all the awareness that you could spread throughout the world!

Yesterday I told you about our Genes Day event for World Down Syndrome Day. In the excitement of it all, or perhaps it was just far too many hours of working online, I forgot to tell you probably the most important part of our celebration this year!

This year, for World Down Syndrome Day, we are celebrating the 50th anniversary of the discovery of Trisomy 21 (Down syndrome).

Fifty years ago, Professor Jerome Lejeune discovered Trisomy 21 in his search for answers about why people had Down syndrome. After this discovery, he quickly discovered other chromosome problems such as Cri du chat syndrome (5p deletion).

If Professor Lejeune had not been persistent in finding this extra chromosome, I would not be here today writing this blog to you! Because if he had not found this chromosome, then mosaic Down syndrome would NEVER have been discovered (in 1961 Dr. CM Clark discovered mosaic Down syndrome) and I would NEVER have know why my little boy, those 20 years ago, was so delayed in his speech.

So, this year, while you are celebrating World Down Syndrome Day, remember this French professor who dedicated his entire life to finding out more about Down syndrome.

Professor Jerome Lejeune

March 21st is World Down Syndrome Day. But before I tell you about all that exciting news, I want to tell you some other exciting news!

A couple of weeks ago , I told you about the book Roadmap to Holland by Jennifer Graf Groneberg. Since that time, Jennifer graciously sent me a copy of her book and I finished it today! Honestly, I had a hard time putting it down! Jennifer writes in such a way that puts you right there in her shoes feeling the things she is going through along the way. I cried when she cried. I laughed when she laughed. And I found myself nodding my head in agreement remembering all those feelings 20 years that go along with getting a diagnosis for your child.

If you have not read Roadmap to Holland yet, I highly recommend it! Please keep in mind that I rarely recommend things to purchase. So, when I say that I highly recommend this book, I mean GO GET THE BOOK!!!! DON’T WAIT!!! YOU NEED TO READ THIS!!!!

You can order it on Amazon by clicking here.

But don’t click yet….. First read my exciting news!

International Mosaic Down Syndrome Association is hosting its 3rd annual Genes Day . Genes Day provides a fun and interesting way for those in schools, the workplace and throughout the community to educate others on mosaic Down syndrome and Down syndrome.

Essentially, Genes Day paves the way for individuals with mosaic Down syndrome and Down syndrome who live within the community, so when they are adults they will have a successful and fulfilling life throughout their community. It is IMDSA’s intention to break the barriers and make extinct the stereotypes surrounded by this chromosomal anomaly.

Participants donate $1 or more to wear their jeans at school or the workplace and learn about the designer genes of Down syndrome and mosaic Down syndrome.Team leaders will be given special Genes Day T-shirts so all their team mates can wear the shirt to let everyone know why they are wearing their Jeans!

This international event is held in conjunction with World Down Syndrome Day . (March-21) The Down Syndrome International (DSI) hosts this special day to spread awareness of Down syndrome throughout the world. Because March 21 is on a Saturday, we recommend that you hold your event on the Friday before that.

For FAQ’s click here.

For Printable Flyers click here.

To make a team click here

This is a great way to spread awareness and educate your community about Down syndrome!

The top fundraising team will receive a great gift package full of helpful information and resources to help you with your child.

One of the items that you will receive as top fundraising team….

An Autographed Copy of

 Thanks Jennifer! You Rock!

Ok! Go Make a Team! Go Buy the Book!

What are your waiting for?

Don’t Wait! Go!!! You Have Lots to Do!!!

Yesterday I explained about the physical characteristics that are found in Down syndrome and how they are usually not as prominent in those with mosaic Down syndrome.

One of the most frustrating things for a parent of a child with mosaic Down syndrome is when they tell someone their child has mosaic Down syndrome and the response is “Really? They don’t look like it!”

My response to that is, “Really? How many people have you seen with mosaic Down syndrome?”

They don’t hear the “mosaic” part of your sentence.

Then, there is the misconception that if they don’t look like they have Down syndrome then there aren’t any problems. They think the person with MDS has no delays or health issues just because they don’t have the same physical characteristics as one with Down syndrome.

This is not a way to measure if the person will have delays or health problems. You can’t judge a book by its cover. Like I explained yesterday, the characteristics may not be there as strongly only because the cells are not in that part of the body, or they have a higher percent of unaffected cells and those cells are working to make the characteristics fade away.

I think it is important to point out that not all people with mosaic Down syndrome have mild physical characteristics. And those who don’t doesn’t mean they are any more or any less affected either. Again, it is just a matter of where those cells are located in the body and how they are affecting things.

So, if you see someone who says their child has Down syndrome, and that child has very mild features, then more than likely the child has either been misdiagnosed, or the parent just doesn’t want to go into the whole explanation of the differences.

Tomorrow, I have VERY exciting news for you all! I can’t wait to tell you all about it! So, be sure to come back, because no matter if you have a child with Down syndrome or mosaic Down syndrome THIS will be something for everyone!

When a person has Trisomy 21 Down syndrome there are certain physical characteristics that go along with that extra chromosome.

Some of these features can be:

almond shaped eyes
epicanthic skin folds on the inner corner of the eyes
a flat nasal bridge
a single crease in the hand
a protruding tongue
a short, wide neck
Brushfield spots (white spots in color of eye)
wide space between first and second toe
single knuckle on fifth finger
short limbs
short stature
flat space in back of head
fine, straight hair

It is important to remember that some of these features can be present in the general population. It is when there are several of these features put together that it becomes a syndrome.

For the person with mosaic Down syndrome, most do not have these features. Or, they do really have them, but they seem less noticeable or not as prominent and so many do not know about their extra chromosomes. This is the number one reason why so many go undiagnosed.

The reason why people with mosaic Down syndrome may not have these characteristics is because of the percentage of unaffected cells in the body work against the affected cells and sometimes the unaffected cells overpower the affected ones. Also, it is important to remember that these affected cells may not be in the area that affects these physical characteristics.

An interesting fact about mosaic Down syndrome and the physical characteristics is the rejuvenation of cells. A person with MDS has the two cell lines. The cell line with the unaffected cells reproduce at a faster rate than those that are affected. Because of this, when the child grows older, often times the physical characteristics that were there early on, begin to fade away.

Because of the lack of physical characteristics, most people believe that a person with mosaic Down syndrome has no developmental or learning delays and no health problems.

Tomorrow, I will explain more about this misconception. So, please stay with me as I begin to dispel many of the myths that go along with mosaic Down syndrome.

Yesterday, I explained about the different percentages of cells in mosaic Down syndrome and why percentages do, and don’t matter.

During that discussion, my great friend Heather asked if you could know where the percentage of affected cells were located in the body. This is a Great question Heather, and one that comes up often within IMDSA’s support group.

This is what is so frustrating for parents of children with mosaic Down syndrome. As a parent, you receive the diagnosis for mosaic Down syndrome for your child. You are told that there are a percentage of affected cells somewhere in the body. This could affect developmental milestones…or it might not. It could affect cognitive learning…or it might not. It could affect health…or it might not.

For the parent of the child with Down syndrome, things are not black and white or cut and dry either. But there seems to be less of a question mark about what might or might not happen.

I am certainly not saying, “Hey! At least you know your child will be delayed!” It is more that for parents of children with mosaic Down syndrome, they just don’t know what to expect. (Thankfully, that is beginning to change a little since IMDSA is helping so many with information and research)

So, many parents ask the question of how can they find out what areas will be affected. Where are the affected cells located? Is there any way to find out?

There is a way to find out, however it isn’t very practical and honestly it would help in any way to know ahead of time.

The only way to find out where the cells are located would be to do a biopsy on every area of the body.

For example, you want to know if your baby is going to have a heart condition, you would take a sample from the heart. (By the way, the majority of heart conditions associated with Down syndrome and mosaic Down syndrome are easily repairable and the children usually bounce back extremely fast from the surgery)

If you wanted to know if your child was going to have low muscle tone, you would biopsy the muscles to see if the affected cells were there.

If you wanted to know about learning problems, you would biopsy the brain to find the affected cells. This would be practically every part of the brain, since each part does something different.

So, to answer this question, really… no… there is no way to tell. It is just one of those “wait and see” things. And for most parents that is the hard part. It is like waiting for a time bomb to go off. You think it will happen…. you are pretty sure it will…. but you don’t know when to expect it, so you sit and wonder about it.

In some ways, not knowing can be a blessing in disguise. I didn’t know that Tim had mosaic Down syndrome until he was 2 1/2 years old. Although I wondered why he was delayed, I didn’t sit and wait for some new delay to happen.For me, I automatically expected Tim to do everything that everyone else did. I didn’t hold him back from things and I encouraged him to excell. By not knowing what to expect, I had no preconceived notions of what would go wrong.

I think it is much better to live in the present. Not the past. Not the future. But today. There is no way of ever knowing what will happen with anyone’s life from moment to moment. You could have a car wreck tomorrow morning and receive brain damage or wind up paralyzed.

If someone was able to tell you without a doubt your child with have trouble in this area or that area. Or your child will have this health problem or that…. What would you do with that information? Would it change anything? Would it ease your mind to know that your child would have trouble with 6th grade math? Or, would it trouble your mind even more because you would realize there was nothing you could do about it?

Thanks Heather for the question! Everyone-please feel free to ask any questions by clicking my comments section under each posting. I am here to help! All you have to do is ask!

When a person has mosaic Down syndrome they have a percentage of cells that have an extra copy of the 21st chromosome and the remaining cells are unaffected. The question continually comes up about this percentage and many wonder  that if there is a lower percentage of cells does that mean that the person will not have as many delays or health issues.

The answer really isn’t as cut and dry as it would seem.

First, there was a study many years ago that did suggest that the lower the percent of affected cells, there  were less delays present. However, this study only had a handful of participants and because of the low number in the study, others did not consider it to show conclusive evidence.

Our researchers at Virginia Commonwealth University are looking more into this, but have yet to come up with a conclusive “cut and dry” “yes or no” answer.

With all that said, I think it is best to look at several factors here.

First of all, if a person has 10% of affected cells, then it would stand to reason that they would have a less chance for global delays than a person with 50% affected cells. You would automatically think that they would definitely be less affected than the person with a higher percentage of affected cells. However, sometimes this isn’t the case.

It is important to understand that the percentages can be anywhere in the body. I explained this some yesterday and you can read that post here.

One question new parents often ask is to speak with other parents whose children have the same percentage. They hope that this will show them what to expect with their child. Unfortunately, it doesn’t work that way.

First of all, each and every child is an individual. It doesn’t matter if they have mosaic Down syndrome, Down syndrome, or nothing at all! First, and foremost they are individuals and they are going to learn and do things at their own pace.

Secondly, because these cells could be anywhere in the body affecting various areas of development and health each person with the same percentage of affected cells could have very different affects.

I hope this has helped you understand a little bit more about the percentages and why they do and don’t matter!

I would love some feedback from all of you while I am doing this series! I know you are there! My website hits are quite large! So, please leave a comment, ask any questions you have or share your story!

Yesterday I explained a little about the development of children with mosaic Down syndrome. Even when a child has Trisomy 21 Down syndrome, there are no absolutes. Just like any child, they will meet their milestones when they are good and ready and not a moment sooner!

I know it is frustrating to a parent who is watching babies and toddlers crawl and sit and walk when your baby may not be doing these things yet. I remember that frustration when Tim wouldn’t walk and later wasn’t making sentences when his typical peers were. Now, 22 years later, I realize that my worry was for nothing. He eventually walked, then he ran and never stopped! He eventually talked and made sentences and now he has no trouble at all communicating. Years ago, it occurred to me that in the whole scheme of things, it really doesn’t matter when these things happen. When your child walks across the stage in their high school stadium to receive their diploma, no one will ask when they took their first steps. When he or she interviews for their first job, it will never be brought up as to when they first learned to talk!  But I do understand that as a parent of a young child, it matters right now. And, I know that some parents really stress over this issue and worry far too much about when it will happen.

So, the question is, why do some experience delays and others don’t?

When a person has mosaic Down syndrome, it is important to remember that there are two cell lines. They have a percentage of cells that have the extra chromosomes and then they have another percentage of cells that do not have the extra chromosomes.

So, first, when you compare this to Trisomy 21 Down syndrome (with 100% of affected cells) obviously you will have some kinds of differences of when these milestones happen because some of the cells are not affected in a person with mosaic Down syndrome.

However, when looking at the “affected” cells is when we see the delays. And the delays vary because the location and the percentages vary.

So, if a child with mosaic Down syndrome has low muscle tone and is having trouble sitting, crawling, walking, etc…. then this would tell us that there is a percentage of affected cells in the muscles causing these delays. If a child is have a speech delay, then the cells could be in the muscles (because it takes a lot of muscles to talk) or it can be in the part of the brain that forms speech.

Some parents then ask, “How do I know where the cells are?”

The answer…. you don’t… this is a wait and see thing and as frustrating as that can seem, it really doesn’t have to be. As a new parent you just need to take one day at a time. And, if a problem arises, then tackle it when it does. Don’t look for trouble where it doesn’t exist because when you look too much you will lose sight of the simple, far more important things in life. Like first smiles, and belly laughs, and those funny expressions your baby makes and all the “normal” things that your baby does do. And, your baby will do TONS of normal things throughout their lives! Far more than the “abnormal”!

So…. Don’t Worry About Tomorrow, because Today Has Enough Trouble of its Own!

And, if you still do…. stay with me, as tomorrow I will explain about those percentages of cells and why if you put 100 kids in a room with 50% of cells affected, you will get a great variety of abilities, delays and health issues.