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.
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.
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|
|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.