Sunday, April 29, 2012

Mosaic Down Syndrome Awareness

The pictures that accompany this post are all people who have a mosaic form of Down syndrome. 

I have been hitting the books (or internet) in the past few weeks since my post on mosaic Down syndrome. A post where I was purely speaking what was on my heart along with the minute bits of educated information I had about it. What I have walked away with now from my research, is a new heart and passion for a community I dreaded admitting we were a part of.

My Fiona

As everything in life, Fiona's mDs diagnosis has been a roller coaster. At first, it was a security of hope that the Amnio was wrong. Then  it was something to hold onto that her form of Down syndrome "wasn't that bad" or "higher functioning". But then the bottom dropped out when I realized it was not a guarantee of "better" or "higher functioning", coming back level when she was born and the diagnosis was now a warm, snugly baby beautiful and in my arms. Then I quickly realized the higher expectations- the immediate denial of SSI, the denying questions doctors had that she had Trisomy 21, the repeated "Are you sure she has Down syndrome" by other moms in the Ds community. Its like we got thrown into a game of "my child is worse then yours, you don't really know" but none of us actually know were our kids will fall on the spectrum.

Addelyn, age 5

IMDSA- International Mosaic Down Syndrome Association. Its probably one of the websites I had found back in those early days when I was searching for better articulated information on mDs then the doctor's "its all Down syndrome". Really, what I was searching for then was trying to find proof my girl was going to be "better"- smarter, prettier- then those with full Trisomy 21. I wanted some guarantee that this partial Down syndrome diagnosis was going to promise me that my daughter would not "suffer" from those things about Down syndrome I was fearful of. When I learned that this baby that was in my womb still had a chance of having physical features of the syndrome and the mental and physical delays that come along with it, I threw up my hands, told my self to stop trying to make Fiona what I wanted her to be, and just wait to accept her for however "functional" she is. I backed away from reaching the mDs community.

Garrett, age 6

Flash forward two years, I cringe at my pre-knowing-Fiona language and thoughts. "Better"? "Suffer"? "Functional"? If only there was some way to understand this life before you are given a defining diagnosis.  And two years later, thanks to a mom who sought me out for advice about a mosaic Down syndrome diagnosis, I went back to that web page I had long ago visited, to refresh my memory on the factual information on mDs.

Zephany, age 5

That's were I read personal stories that not only made me realize that there was certain stuff that only this community could relate to with me, that Fiona may possibly have more potential then I was willing to admit to my self, but also that, holy cow, no one knows about this diagnosis. Story after story of later in life diagnosis, or doctors not knowing what mosaic Down syndrome was. Although, I do still stand firm on my feeling that once you have a Ds diagnosis, it is not preeminent to find out if it is mosaic or nondisjunction, I was truly seeing the importance of knowing about mosaic Down syndrome from an awareness stand point.

Natalia, age 2

 More often then not we run into the three heads problem- as in, people look at us like we have three heads when we say Fiona has mosaic Down syndrome. And what really floors me is how many of these people are doctors, therapists, and other families that have a child with Down syndrome. If anyone should have heard about it, I would think its the people who have to research the extra chromosome for either work or to care for their child. I was shocked that NDSS ( National Down Syndrome Society) did not mention anything on their web page about the fact that there are three forms of Down syndrome.

Meredith, age 8

Actually, the Ds community's lack of understanding or awareness of all three forms seems to be a common issue with families who have a child with the mosaic form.  A big question asked after you conceive a child with Down syndrome is, "what are my chances of having another child with Ds?". Your odds do go up, but they greatly increase if your baby has the form of Down syndrome called translocation. From asking this question, more families are at least aware of the trans form, though they probably do not know much more about it other then the higher percentage of conceiving another child with translocation Down syndrome, unless, their child tested positive for this form. That is human nature- we only care about what directly affects us.

Ariel, age 18

Here is were the issues come up. By simple explanation, most people walk away assuming that mDs is a good diagnosis- that its better then a nondisjunctioned Trisomy 21 diagnosis. They assume our kids will be smarter and have less hurdles to jump in life. We are written off then as not really having Down syndrome- not really knowing what those with full Trisomy 21 go through. But this assumption leads to sometimes turned backs or discredit to our advocating/parenting, a sense of dis-community, when in actuality, we are in a lot of ways in the same boat. I have talked to both mosaic families as well as Trisomy 21 families, and it is so much of the same conversation. Health issues, childhood surgery, therapy, doctors appointments, social issues, stereotype issues. In fact, unless I specifically bring up mosaic Down syndrome, nothing is different in my conversations with children who have nondisjunctional Trisomy 21. Were families with Trisomy 21 can easily find support, mosaic Down syndrome is so rare it is very unlikely you live close to another person with it. Here in Florida there are, I believe, only 11 people who have mDs.

Bradley, age 4

What gets me personally, is when I have to defend that Fiona does indeed does have Down syndrome. Really? Why would I lie about that? She has seen every specialist possible for her health, but some how they misdiagnosed her to have Down syndrome? I hate having to sit there and point out her Down syndrome markers.

Makenna, age 1

I have had people who, when learning we did not do any genetic testing after she was born, and we only go off her Amnio, argumentatively insist we test her again.13 of 15 cells tested had, without dispute, a third copy of chromosome 21. If there was any mistake, its that she does not have mosaic, but indeed has nondisjuncted Trisomy 21. (Unless by some crazy fluke, I myself have mosaic Down syndrome and they happened to accidentally draw 13 of my cells, 13 of my mosaic cells that all had the extra chromosome.... this really is not a possibility) After talking with other parents, a lot do struggle with that feeling of acceptance- not normal in the majority of the population, not normal in the Down syndrome population.

Amelia, age 8

Something else interesting about testing. There is a blood test and a skin test that you can do to see what percentage of the cells have 46 chromosomes and what percentage have 47. We have chosen not to do this with Fiona for now, because all it is is information. Within the last few years, researchers have discovered that over time, a person with mosaic Down syndrome's cell percentage changes. It seems that as new cells regenerate, normal 46 chromosome cells start to replace some with 47. In one case, a persons percentage dropped from 30 down to 12. This discovery is still new and research is still going on to learn more about it. They have not ruled out that the opposite can happen, where the percentage goes up. And they do not know what this means for the person. They are unsure if it effects their abilities or not. Maybe at some point, we will test Fiona's percentage to help with research. But for now, it is knowledge that I feel would only define her more... I don't want to know "how" Down syndrome she is. I want to know her more then just her diagnosis. 

Ivonne, age 2

As far as a medical reason to be aware of all three forms of Down syndrome, there is a significant amount of people, both general public and the medical community, that are not aware of mDs and there is a significant amount of  misdiagnosis' for Autism, when actually, its mosaic Down syndrome.

Scott, age 14

There is a lot of "Autism Awareness", I am aware up to my ears about it. But no one knows exactly what it is. Each person who has it seems to have many different "issues" from the next, sometimes drastically different, and the medical community cannot define it to a controlled number of characteristics- after all it is ASD- Autism SPECTRUM Disorder, and that spectrum is one of the grandest ones out there. Research needs to be being done out the wazoo for this disorder, that goes without question. Even with all the awareness already, so very little is known about it.

Kaleal, age 3

It is alarming there is a significant amount of kids with mosaic Down syndrome being incorrectly diagnosed with Autism, because doctors are not aware to test for mosaic Down syndrome.

Brandy, age

This strikes a cord with me as it seems concerning how so many doctors who are aware of autism are unaware and uneducated about the three forms of Down syndrome. Now, let it be known, that there are a lot of people with Down syndrome who dually are diagnosed with autism and that these things are two separate disorders that are not caused because of each other. And also the some behavioral and developmental characteristics of Down syndrome and Autism are the same. I am in no way siding with the whole opinion that Autism is a sham or not real. However, doctors who are unaware about mosaic Down syndrome are misdiagnosing people with autism. Because of its grande spectrum, some of the "markers" or "issues" overlap with those of Down syndrome. This can be a big issue because people with Down syndrome (any form of it) have a certain health protocol to follow. For example, Fiona has her eyes and ears checked every 6 months as vision and hearing issues are high with a Ds diagnosis, as well as she has blood work every 6 months to check her white blood cells and thyroid because both leukemia and thyroid issues are common to show up with Down syndrome. When doctors don't know about mosaic Down syndrome ( which in some cases, those with it have such low or mild physical markers that you can't just look at the child and see that they should be tested for Down syndrome) and therefore they are unaware how broad of a spectrum Down syndrome has as well, they diagnosis autism and never do a chromosome study ( known as a Karyotype). Also, autism is diagnosed usually after one year of age. And if we have learned anything in the last twenty years about Down syndrome, its that early intervention is vital. Early intervention is the term used for starting therapy as early as possible. When a chromosomal syndrome diagnosis is missed, that child is dis-serviced therapy that could have made a substantial impact on their future abilities, on top of improper health care being given that could mean life or death when it comes to treatment for things like leukemia.

Twins Grace and Emma, age 3

Now, it may be overboard to do a karyotype on every baby born, but if any odd behavior or development or even just one or two physical markers (people can have physical chromosomal syndrome markers without having a syndrome, so a few would not raise alarm to do genetic testing), doctors should be aware that a chromosome issue of the mosaic form could be the culprit. For, Down syndrome is not the only chromosome disorder that has a mosaic form- any of the many chromosomal syndromes could have a mosaic form from my understanding. There is also a mosaic form of translocation Down syndrome.

Lucas, age 5

It takes a mere second to Google mosaic Down syndrome and realize how under-researched it is. I mean, for goodness sakes, my blog comes up on the first page. I am no expert.

Lily, age 4
I have had the privilege to have many conversations with Brandy Hellard, the president of IMDSA, over the last week or so. They are the leading organization for mDs, and are run solely on personal donations. Their entire board is made up of volunteers- as in they receive neither money for their work or funding to travel for the advocating they do for mosaic Down syndrome. All of their donations go to research. And they have been running this way for 10 years. I am floored with how the "big dogs" such as NDSS and NDSC disregard their research, let alone how they do not publicly acknowledge the three forms of Down syndrome. With the Plus 15 researching going on (research to increase cognitive levels of those with Down syndrome by 15 percent), they haven't listened to IMDSA's voice to look at the mosaic community- on average, those with mosaic are already at that 15 percent. People who could more clearly articulate what goes on in their heads and what their lives are like. It seems to be a very big missed opportunity. And from a parents stand point, who at one time was lost and confused with this diagnosis, guess where I was sent? NDSS.org- where there was no mention of mDs. Not one small line even defining what it was.

Casey, age 33

Most of you know, that I have worked closely with NDSS over the last two years, modestly fundraising for them and even doing a local bit of advocacy with Brain Skotko on NPR for World Down Syndrome Day. I think the world of the organization, and everything they are doing to better the lives of those with Down syndrome. I think a major disconnect may be that they, like I do for Fiona, do not see the need to specify which form of Down syndrome someone has. Once Down syndrome is established, classification doesn't really matter... every single person who carries an extra copy of the 21st chromosome, whether it be all their cells or a few of their cells, can be anywhere on the Down syndrome spectrum. But it is becoming more clear the importance of being educated as well as educating that although a child may not have markers of Down syndrome, they could possibly still have it. The importance of early intervention and health protocols that go along with a Down syndrome diagnosis. Its not the people with a Down syndrome diagnosis that need to know if they are mosaic or not, but the people without a Down syndrome diagnosis who need to know. I corresponded with NDSS about the lack of information, and I was encouraged that they are currently in the works of vamping up their website and plan to add information regarding the forms of Down syndrome.

MaryEllen, age 7

My purpose is not to divided Down syndrome into three groups- really, in my opinion, they should be viewed as one. But there is a big lack of awareness on both ends- that mosaic does not automatically mean "better off", but at the same time, that in some cases, the effect of the extra chromosome can be so slight that a Down syndrome diagnosis can be missed at its most crucial time. One more doctor who becomes aware of this could be one more child's life saved. One more diagnosis made early on because the doctor was aware of mosaicism. One more person who gets help for their disabled child.


My daughter has Down syndrome. A rare form that only effects some of her cells. You may say she is better off. But as we are going in for our 4th surgery in less then 2 years, I beg to differ what better is.

I am very thankful for our local community of friends who have children with Down syndrome, that they are there for us in the hard moments, and are also supportive and encouraging when Fiona exceeds expectations. Not all of these families are lucky enough to say they are treated that way.

Thank you to all of you who lent photos for this post. My intention was to show the grand spectrum of the "look" of mosaic Down syndrome. 

A slight correction to some information in this post. I said there were 3 forms of Down syndrome- Trisomy 21, Translocation and Mosaic. I also mentioned that there was a fourth, but failed to included it in my count. There is a a form of mosaic translocation, which is the rarest of all, and I kind of lumped it in with mDs. 

25 comments:

  1. Wow, what a great post! Thanks for all of the great information and sharing it with us...

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  2. My thoughts exactly in so many ways, great post.

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  3. I loved the pictures. They are all beautiful or handsome. I don't know much about the other forms do DS, since, like you said, Kamdyn has t21. We did talk a little bit about it with the geneticist when they explained her karyotype. He said that all forms of DS should be treated the same and it doesn't necessarily mean "better off". So that has been my impression of it. I think that dis-community you mentioned is in other areas, as well. I think there is also a division of people who feel like their child is "higher functioning" against those who are not. And along with that a judgement that maybe those parents didn't do enough therapy, give the right vitamins, work hard enough, etc. it's all a shame. There was a mosaic DS table at he NDSC conference, because I picked up their info. Thanks for writing this. I enjoyed it.

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    1. I agree, I have seen that dis-community among tri-21 as well. And I would put money down that mosaic ds table at NDSC was IMDSA :) they attend as many of those kind of things as they can, but yet have really gotten not much attention from the major ds groups. Things are changing though :)

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  4. Lovely. When we met with Ken Rosenbaum at Children's Hospital in DC, he did a wonderful job explaining the differences. You said people only care about what directly affects them. This is so true. I have found myself in the role of educator about Ds on many an occassion. I think it comes with the territory and is part of our responsibility as parents of children with Ds in any form. People want to categorize everything, put it in its place, make it something that does not need worrying about. Life with Ds has eliminated that need for me and for that and many other reasons I am so thankful.

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  5. When Russell was born, one of the Doctors told us there were two types of Down syndrome, one for older Mothers and one for younger Mothers!!! WTH! Can you believe that! I guess at the ripe ol age of 31 I fell into the "older Moms" category! lol

    I found this post fascinating...You have really provided so much information, I learned so much.

    I also liked how you wrote this and made sure people knew that Mosaic Ds isn't "better off"...I just remember one parent who had a child with Mosaic Ds always feeling the need to say her child was only "a tiny bit Ds"...And didn't have "full Down syndrome"...As though that made her kid better than the others who had just regular T21...But I guess there are just people like that everywhere...Like one of the comments above said, some parents are like that if they feel their child is "higher functioning" than others.

    Anyway, excellent post Shannon!

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    1. Honestly Jenny, I fear people thinking that I think that about Fiona. I think she is amazing because she is my child, but I think all of our kiddos are amazing, no matter their abilities. In the very beginning, when I first found out about mDs, I held my head a little higher that she was "better". But that was out of ignorance and trying to hope away the hard things about Ds. God, I would trade more physical markers for Ds in a second to have her never have to go through all the health issues she has had. This isn't a game of my child is better or worse, or we have it easier or harder, its that our kids are awesome, doing the best they can, and we love them :) All of them - no matter how they look or what they accomplish :)

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    2. I've never thought for a minute that you have felt that way Shannon...It was actually just the one Mom I ran across and it was the way she kept saying it that rubbed me the wrong way. lol
      I do remember after Russell was born and reading about the 3 different types, I prayed to God he had Mosaic Ds, because I too thought he would be "better off" Or maybe people wouldn't be able to tell...All silly thoughts...You are doing such an amazing job with these posts...I am learning a ton!

      Also, what the heck is Anonymous trying to say?? It's confusing me...And it's funny isn't it, that it's always an "anonymous" commenter who has the most correct info to give and the most to say...And yet they won't sign their own name to it and own their thoughts and ideas! HA!

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  6. Shannon,

    Once again Thank you for showcasing that Ds is a spectrum disorder like autism. Like you mention in your blog I too hope that more of the national org. will offer more current information on all forms of Ds. Thank you so much for spot lighting IMDSA, and helping to bring more awareness on mosaic Ds, mosaic translocation Ds, and translocation Ds.

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  7. Wow! First off, loved the pictures. I would have never looked at it as some children were not being diagnosed with Mosaic DS because they didn't "look" like they had DS. I had only thought of it as "better off". I wish the medical community would step up to the plate and do some research of their own. Thanks for bring it to light!

    PS...I did tag you today in my post 11 Random Things. I love your blog!

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    1. I dont know if I have anything to share that I haven't already :) I am an open book as well :). I forgot to mention Dr. Jackson-Cooke, she is the main mDs researcher out of VCU. Research is going on, but it is small in comparison to general Ds research, or prenatal and termination research for that matter. The big issue is that the research being done is not being noticed or acknowledged, and the information is not getting to the doctors who deal with patients individually.

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  8. I totally agree with you that more research needs to be done in the field of MDS and places like NDSS are not willing to acknowledge the increasing numbers of people being diagnosed with mosaicism.
    I can definitely see there is a lack of information on the Internet and just in general because I noticed you keep mentioning only 3 forms of Down syndrome. There are many more than 3 types, with 4 major types. (You mentioned the 4th major classification in your article, which is mosaic translocation. With that, the 4 main types are complete Trisomy 21, MDS, translocation DS, and mosaic translocation DS, but there are other types.
    My concern with knowing the difference is not to say that one type is any better or worse than the other, but as you said to get good information and all the information I can about my child's diagnosis. It is important to know that with MDS, there are *two or more* cell lines, which means a typical line with 46 chromosomes, an atypical trisomic cell line with 47 chromosomes, and oftentimes, a 3rd or more additional cell lines with abnormality. This is not often brought to light, by I believe the IMDSA mentions it on their website.
    Many parents not only have to worry about their child with mosaicism having Down syndrome and health issues associated with that, but also have to worry about other chromosomal disorders occurring within the mosaicism. Sure, people can have other moosaic syndromes, which are not Down syndrome, but I am specifically referencing having MDS and having other atypical cell lines.
    So many people have written to me in support of better testing because it was years before they discovered their child had MDS and additional cell lines as a result of that diagnosis, not just trisomy 21.
    Doctors like Brian Skotko have said to me that Down syndrome is just Down syndrome, and he treats them *all the same*, but in reality each kid is different and even though the ones with Trisomy 21 DS have a set of Healthcare Guidelines, those with MDS may have more guidelines to follow as well with other trisomies, monosomies, or what have you. With mosaicism, it is not a cut and dry situation and quantitative cell counts need to be done to determine or exclude the possibility of other conditions besides Down syndrome. I do appreciate the fact that Brian Skotko understands my passion and as a parent, my need to understand all there is to know about my child's condition, including whether or not he has mosaicism for Down syndrome or not.

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  9. In regards to the above comment form anon... Susan, I have researched and spoken with many people who are well versed about mDs, included top researchers in the field, and these concerns you have do not make sense. You called me out in the last post saying I should have done my research- well this time I have. And the only thing I came across concering the different cell lines was your petition and your comments. Your concern that those with mDs have more guidelines to follow does not seem to backed up anywhere. I am 99% sure this is Susan, because you are the ONLY person who I have come across both in forums and in looking up your concern for cell lines that would voice this information. Please do not be a coward and post anonymously. If you have something that is important to say, identify yourself.

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  10. Shannon you did an awesome job on the blog and on researching as well.

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  11. As a mother of an amazing 6 and a half year old boy with MDS I can honestly say your blog has put into words everything I have been thinking and feeling ever since we recieved Patrick's diagnosis 7 years ago. Thank you!!!!

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  12. Shannon, hey... That was a great read. Thank for taking your time on this, and the support this does infact give. I still would love to talk with you further. When we both get a chance. Casey Morton.

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  13. Shannon,

    Great post! Can you share a link to the study that showed the change in percentage of DS cells over time? I'm a Naturopathic Physician in Portland,OR who has a 4 yo son with MDS. I see patients with DS in my office and like to keep up on all relevant research. Thanks!!!

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  14. Shannon,

    Great post! Can you share a link to the study that showed a change in the percentage of cells over time? I'm a Naturopathic Physician in Portland, OR with a 4 yo son with MDS. I see patients with DS in my office and like to stay up on all relevant research. Thanks!!!

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  15. Shannon this was a heart warming and just refreshing to hear another mom that sounds soo much like myself with Lily. The past four years have been insane trying to reach out and acquire some sort of HELP to HELP Lily in all the ways she needs. You hit it out of the ballpark with this blog honey!!xoxoxoxo
    ~Kari Kidd (Lily's Mom)

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  16. great information thanks to share. we just found MDs in our daughter. It is unacceptable.we both were crying in hospital when dr told us.still don't know what to do. how we will support her .

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  17. my daughter diagnosed with very mild MDS. I want to know if she is still able to go to normal school or in spceial school.pleaase let me know thanks

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  18. I hope you come back to read this anon. Your little girls future is just like any other, unknown. Only she will tell us what she can do. My daughter is two and I have no clue what kind of school she will be able to do until she is in school. She is growing and learning at a slower rate, but non the less and her potential as far as I am concerned is limitless. If you would like to talk to me more you can find me on Facebook or go visit imdsa and you can contact people who will help you walk through this new diagnosis.

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  19. My daughter supposedly has MDS; she was diagnosed by amnio 16 years ago. I was pregnant at aged 44. I was told she had 21% trisomy from analysis of placental tissue, 22% from analysis of amniotic fluid, 4% when they tested lymphocytes. She is a straight A student and has no physical/mental signs of DS. NONE. We have never told her the diagnosis and none of her teachers ever knew...why tell them? They might treat her differently. If your child has a low percentage of trisomy I would not tell a soul....wait and see what happens. Good luck.

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  20. I was diagnosed with mosaic downsyndrome when i was born. My twin brother was diagnosed with trisomy 21. I always knew that me and my brother were technically identical twins, and that he had down syndrome. But I never knew that I was diagnosed with mosaic down syndrome when I was born until i was about 17 years old. I was at dinner with my mother one day around when I was 17 in highschool. I do not remember how we got on the topic, but it was then that she told me that I had mosaic down syndrome. I did not know what to think at first. I knew that I had extra help before I started kindergarten. As I got older, I knew that my brother was different. But I never knew that I was not so different at first. I had speech therapy for a year or two. I struggled with doing homework, but I still managed to learn at the same level as all of my class mates. I was, at least I thought, a "normal" kid. In my opinion there is no such thing as normal and I have my brother to thank for that. But I thought of myself as "normal". I learned at the same rate as my friends and class mates. I was social like them all. I didn't really need help with learning. It was more so me just being lazy that caused me to get grades below most of my friends. I was diagnosed with Attention Deficite Disorder when I was in middle school. I will admit, I was not happy to hear this and that I needed medication to help me focus to do better in school. And I was afraid to tell my friends about it. I didnt want to have to rely on medication to do well. I eventually stopped taking the medication and just... I don't know how to put it but... I just did me. Eventually I learned to love that my brain processed faster which is from my understanding why those with ADD seem to have a short attention span when in reality, they can just observe more faster. As time went on, I remained that way; "Normal"; motivated to do what I wanted to do; Independant; College student; Law Enforcement Academy graduate. Again, one could say "normal". One thing I have never been good at is researching. Though I just started researching this, I have not been able to find much information on the future lives of those with mosaic down syndrome. Whether they completely grow out of the symptoms of mosaic down syndrome or that they just learn to compensate. I guess I am just finding it hard to believe now that I could have even had mosaic down syndrome in the first place. Part of me wishes that I had down syndrome like my twin brother. Growing up with him, his friends, and all the others I have met over the years, I can honestly say it has been the best thing I could have ever asked for. It seems weird to some people when I say that, but they have revealed to me a whole new way to see life, and them. They are no different than those who are "normal". I truely feel that those who are mentally challenged are in some ways better than those who are not. And I find myself telling those who do not know about it, that they should take the time to interact with people who have down syndrome, or autism or any sort of mental disorder. Let their minds be as open and caring as my brother's, and his friends and colleagues.

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  21. I am a school psychologist and I just came across my first student with MDS. I truly appreciate you sharing these pictures and insights.

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