Monday, April 16, 2012

Moasic Down Syndrome- still learning

Fiona has Mosaic Down syndrome. Most people aren't even aware that there is more then one kind of Down syndrome, when there actually are three. I have said it before, written it in my section explaining Fiona's medical issues and doing a few posts here and there about it. I get a lot of traffic to my blog from people looking up images of Mosaic Down syndrome and finding Fiona's pictures.


I thought I was a good advocate for it.

About two weeks or so ago, I received an email from a mother who, like many others, found my blog by Googling Mosaic Down syndrome. Their 3 year old had just been diagnosed with leukemia, along with having another medical condition, and her doctors suspected she had a chromosome disorder. They thought possibly she had Mosaic Down syndrome.

When I was first told Fiona had Mosaic Down syndrome, it was an after thought. We received the results of her amnio over the phone, and all the geneticist said was that it came back positive for Down syndrome. He gave his condolences, offered to give me support if I needed it and click, that conversation was done. I met with my Maternal Fetal Medicine doctor who was expecting me to abort- that was a lovely doctors appointment, having to explain to a medically trained person that although I had a 75% chance of my daughter dieing in utero, I would have 100 percent chance that my daughter would die if I aborted. It wasn't until weeks later, at my OBs office, that I ever heard about Mosaic Down syndrome. Ten minutes or so into the conversation, my OB said very passingly, " 2 of the 15 cells they tested came back normal, so it might be Mosaic Down syndrome, or possibly they drew two of your cells by accident." When I pressed for more understanding about Mosiacism, I was responded to with something along the lines, " either way, the baby has Down syndrome". I left that appointment both very interested and very confused. What was Mosaic Down syndrome? Why was it not a bigger deal that they didn't know for sure? What does this mean for my baby?


I did what I always do, and Googled this new term. Its been too long to know exactly what sites I was directed too, but all I remember is walking away from the computer feeling like this new diagnosis didn't matter. It didn't matter if I ever knew if she had it. Its all Down syndrome, it all has a wide range of abilities, and knowing the exact diagnosis would not change who my daughter turned out to be. Either way, she was going to have the heart defect, the clubbed feet, physical markers and although if she did have Mosaic she potentially would have an IQ of 10 to 30 points higher then most with Down syndrome, she would still have mental retardation to some extent.

After she was born, we declined further genetic testing. Why prick my daughter for more blood for something that doesn't matter? Doctors quickly confirmed the Mosaic diagnosis from how few physical features Fiona had of Down syndrome. But it was never medically verified.

I explain MDs frequently to people. Basically, Fiona only partially has Down syndrome ( if the MDs diagnosis is correct). Only some of her cells carry the extra 21st chromosome. There are two theories on how Mosaic Down syndrome occurs, although research and the funding for it are severely neglected. The first, and most highly thought theory, is that either the egg or the sperm has two of the 21st chromosome (this is how Trisomy 21 happens) When the two join together, and create the first human cell, that cell has three of the 21st chromosome when it should only have 2. As the cell divides into two cells, and then four and so on, somewhere along the line, a mutation or fluke happens and for some reason that extra 21st chromosome doesn't get passed onto a new grouping of cells. All cells divided off that cell then do not have 3 of the 21st chromosome. The other theory is the exact opposite. That the cell starts off with the correct two 21st chromosomes, but then somewhere along the line, it gains an extra one.

Between the quick understanding of this I found from Google, and the lack of urgency from the doctors to clarify the diagnosis, I stopped pressing. I may have Googled a few images to see if there were kids that looked more like Fiona, kids that didn't really look like they had Down syndrome. But I really let it go.

So this mom, she was seeking advice from me. Comfort for what her daughters future will look like. But here is her daughter, who physically only has one small marker of Down syndrome, has had no developmental delays and functions as a normally developing 3 year old. She gave me more comfort then I could ever have given her. I went back to Google and searched Mosaic Down syndrome again, but this time I read the personal stories. And I was shocked with how many people never knew they had it till later in life. So many people with such minor delays that they were never considered handicapped in anyway. And I realized that although I want to believe that Fiona's potential is limitless, I never truly believed it. I never truly believed that she would ever achieve certain things that I was now reading many people with MDs have done- some things that some people with full trisomy 21 also achieve. My heart simultaneously soared with new hope but was crushed by my own weak faith in her, in God.


Mosaic Down syndrome has a range of mild to severe, same as trisomy 21. But I learned there is a big difference for some.... That some with mosaic are not mentally handicapped. My stance that no matter where Fiona reaches, I will rejoice, has not changed, but my hope has. For the first time ever, I know I can have hope outside of a miracle that she may actually not be mentally handicapped. This is something good that came out of researching MDs. The spectrum still goes down to "severe" but it also can go further into "normal" then the spectrum for Trisomy 21 does.

The last year and a half, I have been quick to correct people assuming that those with MDs are better off. Its important when receiving a diagnosis of any disorder that has different ranges to remember that it is simply a label. Really, it tells you very little about the future with your child as the spectrum ranges from normal to severely handicapped. Some times I am very resentful to have a label. I wish I could look at Fiona and not have the label follow her name. As much as I fight it, as much as I often don't even see the effects of it, that label forces my mind to define my daughter a certain way. I am jealous of this mom who got to spend three years with her daughter with no label. Every not-so-perfect thing wasn't thought to be Down syndrome, it was just how her daughter was. Some kids walk at 9 months, some kids walk at 18 months... but if the child has a label, we say don't just say she was a late bloomer, we say "She has Down syndrome".


Ignorance can be bliss. My educated mind is jealous of that.



For that reason, I will never do further testing on Fiona. I do not want to know what percentage of her cells have the extra chromosome, because I do not want to label her any more then she already is. She will be who she will be, and it doesn't matter what the odds are that she'll have a certain IQ. She is smart. She is beautiful. Of this I am certain and need no measuring stick to compare. Sometimes having all the answers is actually your down fall.


Take away her Down syndrome diagnosis, and what do we have to worry about? Her heart, that has been fixed, her feet, that have been fixed, her low muscle tone, that we work on strengthening, her poor eye sight, which she will one day wear glasses. I really did not need a Down syndrome diagnosis to tell me any of these medical things to help my baby. I just needed to know her. And this is what I want to focus on from here on out. To learn Fiona not from text books and doctors telling me odds and chances, but from Fiona, who when she needs help, I will be there, my husband will be there, to get her through.


If you came here because you searched Mosaic Down syndrome- seeking comfort and understanding for a new diagnosis, I wish there was more I could say. I wish I could guarantee you that life is going to be perfect and wonderful, that your child is going to be the star football player or homecoming queen and graduate valedictorian from Law school, or whatever dream you had for them. But I hope you can take comfort from that fact that not much has changed. Your child's future was unknown even without a diagnosis or a label, and now with it, it still is. Your child may look different, or the same. They might fit in or they might be bullied. They might attend normal schools and normal classes, or they might need extra help or not be able to graduate at some point. They might get married and become parents some day, or maybe they may need to live with you always. And just as not much has changed for them, not much has changed for you either. You will continue to give them every opportunity possible. You will continue to teach them, show them the things that you love, encourage certain activities while discouraging others. You will be there for them, and love them and celebrate with them when they are happy.

But hopefully one thing does change. Hopefully this unwanted label will bring amazing new friends in your life. That a community you didn't give much thought to will become a community you couldn't imagine not being a part of. Sometimes this label doesn't merely define, but it allows you to connect. Maybe this sounds awful to you, that you do not want to connect with our special club. At first, all we want is normalcy. But that is the beauty of this community, it allows you to see how unnecessary normalcy is.

Google your heart out. Knowledge has its uses. But then shut off the computer and enjoy that amazing blessing who's only wish is to be loved. Because they are all that matters. This advice is just as much for you as it is for me.

Thank you Astra, Holly and Megan for today :)




15 comments:

  1. I've never heard of T21 referred to as a spectrum disorder. All the info I've read says that you have it or you don't. Obviously this is more clear with traditional nondisjunction T21, which my daughter has. All her cells have 3 21st chromosomes. I can understand how a spectrum disorder might relate to MDs more. I know there are varying levels of abilities, but I guess I'd like more clarification as to why you call it a spectrum disorder. When I google those terms, I don't find anything relating to Ds.

    But aside from that confusion, this is a great post. I really had no idea there could be such variation among those with MDs. And there's nothing wrong with your hope, or your dismay in the ideas you had. It's a tough balance, knowing that our children will have some delays, yet expecting the most. It's hard to completely do either. It IS a balancing act. So don't get down on yourself.

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    1. All types of Down syndrome have a spectrum. Spectrum disorder will generally lead you to autism, but I wasn't using that phrase as a medical term or label, but merely as a description. Down syndrome, whether it be T21, MDs or Trans, has a spectrum from mild to severe. MDs has can reach the most mild end of the spectrum, further then the other two forms, but no matter what form the person has, they fall somewhere on the Ds spectrum (or sometimes referred to as line). Most people with any form of Ds fall on the mild to moderate... a few fall in extreme mild (which up until recently I wasn't aware was a possibility) and a few in severe. A Down syndrome diagnosis cannot tell you where on the line your child will fall, it is purely a label. Only your child through time can show you were they fall. I think this is something that you probably already knew, just my wording was confusing.

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    2. After second thought, I went back and changed my wording to clear up any confusion :)

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  2. My name is Brandy and I'm the president of International Mosaic Down Syndrome Association.(IMDSA)IMDSA.org I think you did a wonderful job explaining mosaic Down syndrome. Here at IMDSA we use the term spectrum disorder all the time. I will say that some of the DS community doesn't like for us to use that term, but it is what it is! Great Blog!!

    Brandy Hellard
    President
    International Mosaic Down syndrome Association (IMDSA)
    P.0. Box 354~ Trenton ~ OH ~ 45067
    1-888-MDS-LINK ~ 1-513-988-6817 ~ (FAX) 1-775-295-9373
    http://imdsa.org

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  3. I´m totally agree with you in this:

    "She will be who she will be, and it doesn't matter what the odds are that she'll have a certain IQ. She is smart. She is beautiful. Of this I am certain and need no measuring stick to compare. Sometimes having all the answers is actually your down fall."

    I think exactly the same, my daughter have MDS, she´s very healthy and besides of some delay in her milestones, she´s like any other kid, but I must say that because of her, every one in the family is a better person now than before, we enjoy all the small things that we commonly ignore.

    I agree with Brandy, you did a great job.

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  4. That was a really beautiful story! Thank you so much for sharing it. I especially loved the line about our child being more than a label. SO true. I need to remember that myself for my own boys who have autism.

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  5. I read it, but I have to respectfully disagree that knowing what type of Down syndrome does not matter. It does. If my child has straight trisomy 21, then he has 100% of his cells affected with trisomy of the 21st chromosome and there are no other possible cell lines to be concerned about; I follow the healthcare guidelines for Down syndrome and address the medical issues associated with Down syndrome and that is it. HOWEVER, as the IMDSA well knows, if my child has Mosaic Down Syndrome, then my child has a trisomic line, a normal line, AND possibly other chromosomal disorders. I need to not only follow the healthcare guidelines for Down syndrome, but very possibly healthcare guidelines for some other syndrome. If mosaicism is not ruled out, then I cannot rule out other chromosomal abnormalities either. Accurate diagnosis is critical. Although a very touching story, this mother should have researched just a tad more to discover that MDS means TWO OR MORE cell lines, not just Down syndrome is Down syndrome, but it is a possibility that it is not *just* Down syndrome.

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    1. First and foremost, I would like to clarify that I DO NOT consider my self and expert. I only speak of what I know from my personal experience with my daughter, what we have been told by doctors and therapists and a little of what I have read. I am definitely still learning. Her amnio, which tested 15 cells, 13 had three of the 21st chromosome, and 2 had the normal 46. Mosaic Ds was never 100 percent verified because they thought those 2 cells could possibly have been my own drawn from my uterus by accident. I understand that there are certain protocol tests and things to look for with different syndromes, like for Ds things such as thyroid, heart conditions, etc. But from my personal experience, everything "wrong" with my daughter health wise would have been found regardless of knowing she has Down syndrome. I am not saying this sarcastically, but truly curious, so what if she has other syndromes? What would that tell me? That MAYBE we would have certain hurdles? Why not figure out how to jump them when we get there instead of mulling over if we will ever have to or not? As far as medical, she is very very well looked after simply because of the Ds diagnosis. Blood work, ultrasounds, x-rays, EKGs regularly. I really do not see the criticalness of an accurate diagnosis when it comes to syndromes. You cannot treat a syndrome. Only the complications caused by the syndrome. And the complications will come to light whether you have a diagnosis or not. I have an acquaintance whos daughter is undiagnosed. She has some sort of mental handicap/physical handicap, but she is going on 10 and no doctor can label what exactly she has. She is still taken very well care of by the medical world. The ONLY frustrating thing about not knowing the exact diagnosis is that with out a label, the parents have a hard time getting aid for her. Unlike for us, we just had to tell Early Steps Fiona had Down syndrome and got unquestioned therapy, they have to fight for everything. I am no expert, and I do love to be educated. So thank you for making me aware that there could be other reasons to test Fiona. Knowledge definitely has its uses. But I still feel very confident that the choices we have made are founded and the best for us. I did read about a little one in Nashville that had two different chromosome disorders, mosaic trisomy and mosaic... something I am blanking on, the other day. I feel that if there was concern with this for Fiona, that someone along the line between the 10 different specialists we see would have been more adamant about further genetic testing. Does your child have more then two cell lines?

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  7. Shannon, I do the newsletters for IMDSA and I had to get on here and tell you how much I appreciated this post. I really love that you explained so much about mDs, rather than just leaving it at "a rare form of Down syndrome". The more we explain to people the more will know about it and it won't be so unheard of. I also really respect your reasoning for not getting your daughter tested more. In the future, if you ever attend one of IMDSA's Research & Awareness Conference you might consider participating in research there, but as for your reasons being satisfied with the diagnosis, I think you're very justified and I applaud your reasoning.
    Your post was sweet, honest (I especially appreciate the mention of the difficult conversation about abortion - a very real situation for so many couples), informative and does a better job to spread awareness than many personal stories I've read. Thank you for taking the time to share!

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  8. I would like to comend you on such a well written explanation of MDs. I completely understand your reasons for not exploring further testing on Fiona. I would also agree with you that there is a clear spectrum, and would also agree with your additional write up regarding does it matter if there are other chromosome abnormalities why add another label or another syndrome ?? As long as any complications are identified and treated this is the most important. Ps your daughter is beautiful and I found what you wrote very inspiring.

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  9. Shannon, my 20 month old daughter Katie was diagnosed w/MDs during an ultrasound I had when I was about 12 weeks pregnant. 18 of the 22 cells showed the extra chromosome. The genetic specialist had a hard time explaining what this meant for Katie simply because it seems to be "just wait and see" how she does. I struggle every day with this "label" of MDs. Katie has very few of the DS markers. Actually the 2 that showed in the ultrasound went away as she grew in utero. I see a bit in her eyes but that's it. Because she has very few physical signs my husband and I have decided not to tell people (other than family) she has MDs. This is so that she can grow up without being labeled by her peers. If it turns out, as she gets older, that her diagnosis becomes more obvious we will cross that bridge when we come to it. Katie sees a Ds specialist at Childrens Hospital of Pittsburgh regularly. She has already been to eye, ear, and heart specialists and has no health issues whatsoever. For this I thank God. We, too, don't want our Katie labeled and want her to reach her full potential, whatever that may be. Just like all children, she will do what she can do when she is ready to do it. I loved your post about Fiona. I used to Google all the time and read about MDs and was always left with as many questions, if not more, than I had before. I think I was looking for someone to tell me what the future holds for my daughter. Will she drive a car, get married, go to college? Nobody can tell me these things except Katie and like everything else, we will just "wait and see" what lies ahead....

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  10. We're all still learning - Mosaic Down syndrome, Down syndrome, etc. The doctors, therapists, geneticists, etc. will rewrite the textbooks with the lives of this generation. They are still learning too.

    Keep writing - we need your story.
    Blessings,
    Alyson
    (Mama to 7 wacky wonders including the very fabulous Noah who is 6 with full Down syndrome)

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  11. My daughter was diagnosed with full Trisomy 21 five days after she was born. She is now 8 months old, and has such a mild presentation of the "dysmorphic features" that I have been encouraged by several health care professionals to have her tested for MDs. I'm not sure if we will do that or not, but I am interested in learning more about it. Other than hypotonia, she has none of the health issues commonly associated with Ds, she is extremely alert and engaging and lovely. No matter what her diagnosis, she is an individual, with her own path in life - and she can do or be whatever she wants. But if she does have MDs, perhaps a test would help the healthcare community learn more about the condition. I suspect that MDs is much more common than we realize, because so many people either are not diagnosed with it, or if they are, they don't tell anyone.

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  12. Thank you so much for this beautiful post. My son was just diagnosed a week ago, and it has been a hard week. Your post helped me to focus on the positives, and on all the opportunities my little guy has...no matter what his "label" is. I found myself nodding with everything I read...thank you for putting into words, what I have been feeling. This part especially just hit home -
    "You will continue to give them every opportunity possible. You will continue to teach them, show them the things that you love, encourage certain activities while discouraging others. You will be there for them, and love them and celebrate with them when they are happy."
    Thank you!

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