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Post by Ericsmomma on May 14, 2006 7:00:42 GMT -5
Sorry I didn't post on the message board, but for some reason I can't log on...anyway, to answer your question, yes, some children born with Down Syndrome may not have alot of physical characteristics at first. My son, Eric, wasn't diagnosed with Trisomy 21 till he was almost one month old. The only "physical" characteristic they observed was the "straight line" across the palms of his hands. And only one of the neonatal docs noticed that..so it was quite a shock for us. ( Blood work confirmed her suspicions). And for some time, after people saw Eric, they would ask "are you sure he has down syndrome? " cuz he doesn't look like he does".......which sure was a strange question to me....like we would make that up! LOL! But as the years went by, (Eric is now almost 6yrs. old) his features resemble that of a child with down syndrome...which he is! And he is the handsome-est little man I've ever seen! He has my eyes, nose, and face shape, and his Daddy's mouth and hair type. He has his Grandfathers "lankiness", and his Grandmother's blue eyes. He's my sweetie! So my advice to you is if your Meghan is diagnosed with Down Syndrome, don't only see that.....look at her first as a baby, your baby, who has your genes and traits. Someone who will develop into her own "personality" and who will love you unconditionally. Just like any other child.....Good Luck...and keep posting...this is a great group! p.s. I don't know much about Mosiac down syndrome....but I'm sure the doctors can give you some insight. There is also a group on the internet who have children with Mosiac down syndrome. (I forget the link...but I'm sure if you type it in, it will come up) And there is a wonderful person named Debbie, who herself has Mosiac down syndrome, who posts on our site....she's a treasure
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Post by tienie on May 14, 2006 7:37:53 GMT -5
Thanks! Meghan is almost 5, and no one suspected Downs until recently...which is so different from all the other stories I've heard. She's been getting therapy of all sorts since 1 1/2, but the diagnosis process just started this year. The red flag for me was how short and chunky she is, when we're both average height and athletic. By her age I was about 4 inches taller than she is and skinny. But, that's really the only thing typical of Downs Syndrome she has (oh, other than a small mouth). A woman on an Autism support group I'm in suggested Mosaic Downs (her son has it) because she only has a few characteristics, but now I'm wondering if it might just end up being regular Downs. I guess I'm really just tired of not knowing what's going on with her, and these tests are taking way too long to come back!
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Post by Ericsmomma on May 14, 2006 7:52:41 GMT -5
Oh, I didn't realize Meghan is almost 5yrs....I can see why you are questioning the physical aspects. The blood work should confirm/rule out Down Syndrome. I know waiting is hard...keep us posted.
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Post by Connie on May 14, 2006 12:15:30 GMT -5
Martiene,
Collin was diagnosed with trisomy 21 shortly after birth. He displayed a lot of the typical characteristics. Simien crease in his palms, flat face, low set ears, etc....but there were and still are times when people look at him and wonder what is different about him because his features at times aren't that promenient but since his speech is delay they know something is different. Now, my mother who babysits, had a little girl who was diagnosed at about 12 to 18 months old with mosaic DS. I believe if I remember right there were about 7-12 % of her cells that carried the extra 21st chromosome. The only reason she was diagnosed was because of an eating disorder and epilepsy. If a parent of a typical child would look at her they would not see any of the DS characteristics but I could notice some features at times just because I think I was more in tune with them from having Collin. Keep us posted and if you find you need a home....Welcome!! Connie
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Post by tienie on May 15, 2006 8:45:02 GMT -5
Thanks everyone! It's gotten to the point where the only thing that makes sense for Meghan is some sort of DS, even though she doesn't have the "typical look". I even added her pictures to the member photo album, if anyone wants to see them. But, the older she gets the more I start to see some features that weren't there before (or I didn't notice before, anyway). It's just all very subtle. But honestly, until I got tired of wondering what is so wrong with her and sought out a diagnosis on my own, the school district was content with just treating her problems and not having any answers. (I'm not in a good school district.) As far as her pediatrician looking for answers, she seems to blow stuff off. She actually asked me recently if Meghan is still in speech...as though she'll ever be out of speech! I don't think she knows how bad her problems are. She's half her age developmentally and doesn't understand most of what people say...that's not something to be blown off!
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Post by Connie on May 15, 2006 10:48:17 GMT -5
Martiene, Just want to tell you how beautiful I think your little Meghan is (as if you didn't know already)!!!!! Connie
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Post by Jessie on May 15, 2006 13:06:20 GMT -5
Wow! She is a very pretty little girl. ONLY because I was looking for characteristics of Ds would I think that maybe the bridge of her nose is indicative of Ds, but if I wasn't looking for it I would never think that she looks like she has typical Ds characteristics. Should be interesting to hear what the diagnosis ends up being. What about Williams syndrome? Jessie
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Post by ethansmammy on May 15, 2006 18:55:04 GMT -5
Hi Martienne,
It doesn't 'look' like she has DS at all to me, but of course there is more to it than looks. I hope what ever it is you have some answers soon, regardless you will still have the same daughter you have always known, but knowing why she is having problems will help you best help her. My son is 4 and has trisomy 21 - you can see it but he doesn't have all the characteristics. I don't know anyone with mosaic DS, Debbie on this site I think says people are surprised when they learn she has DS, so I kind of presumed that she doesn't look like she does. (Please correct me if I'm wrong Debbie) Good luck to you.
Elaine.
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Post by tienie on May 15, 2006 20:09:27 GMT -5
Okay, I guess there's more...it's just her eyes don't look like DS and that throws it all off. The bridge of her nose, she has the tiny mouth, she has a small head, she's extremely short, she is always overweight, she has hypotonia, she has the fine straight hair, pot belly, seizures, the space between her first and second toes...but most of all she doesn't fit the description of anything else! I mean, we know she has PDD, but even that is "grasping at straws" according to her neurologist. She has the speech patterns of Autism, sensory issues, toe walks and does this thing with her legs that could be considered a repetitive movement, but she is the most affectionate child I've ever seen. She has this huge desire to please people and really wants to learn...totally the opposite of Autism/PDD. She's very in tune to other people's emotions, too, and yet she's half her age developmentally. Also, when she gets frustrated because something is too hard she distracts us with humor, which I've read is a tactic typical of Down's Syndrome. I'm so frustrated because nothing other than DS makes sense. Fragile X was negative and her MRI was "normal", so that rules a lot out. I remember reading about Williams syndrome and it seems like something I read sort of ruled it out...can't remember what though.
Anyway, thanks for everyone's input. I added another better picture of her on the photo album. Let me know if you see anything different, because to me I see some DS features in her but not dramatic ones like most kids. Another thing I've never read but I've seen is dark circles on the eyes of DS kids. Is that a characteristic? She has that, too, but I've just never seen it listed anywhere.
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Post by CC on May 15, 2006 23:10:48 GMT -5
Hmmm if you don't mind me asking when did you have the blood test done?? When Chris was born they told me there was a chance he had DS BUT they would not know 100% till the blood tests were done. Only took us a few days to get the results back.
Just a guess here but after reading your posts and the fact that Meghan is 5 and the question of DS has not come up till now, but if it does turn out to be DS my bet it would be Mosiac DS. Would be the first that I ever head of one having the regular trisomy 21 DS and it not being picked up till 5 years of age.
Hope you find out soon, I am sure the not knowing what the problem is, is most frustrating.
CC ~
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Post by meghans_mom on May 16, 2006 11:33:33 GMT -5
I just wanted to say hi & welcome!! My daughter is "Meghan" also - she turned 5 this past dec. Wanted to see your Meghan's pics but am unable to find them in the album...someone help me there! anyways - hope you find the answers you are looking for...laurie (mom to meghan, aka MM and matthew)
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Post by tienie on May 16, 2006 18:40:35 GMT -5
Hi Laurie - If you go to the "photo album" link and then click on the icon that says "members photo albums", click on the bottom of the page where it says "last page". It will say my name on there.
CC - The bloodwork was done on May 4, but my ins. co. insists on using Quest Labs, when the only lab they have that does chromosome testing is in California. So I guess they get so many that it takes forever. They said usually about 6 weeks, but then when I talked to the neurologist's secretary she said the results should be in for our appt on May 31st. I hope they are in then!
What is the hardest about all of this is if you look at her she appears normal, so there are people in my family who doubt me and all the professionals who have said her problems are severe. "Not knowing" has divided my family, so I'm basically having to prove myself (and the doctors) right.
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Post by hidyperson on May 16, 2006 18:53:10 GMT -5
So is your daughter little boy named Cole ? -Jeff
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Post by tienie on May 17, 2006 8:29:45 GMT -5
Jeff - No, smarty pants, Cole is on page 6 of Member Albums. If you click on the actual word "last" on the bottom right hand corner of the page you should get to the last page, where you'll find "Martienne" on there. That's mine. They're all listed in the order which they were added, and mine was just added this week.
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Post by Connie on May 17, 2006 8:56:04 GMT -5
Martienne, LOL...you are going to fit in her just fine!!!! We all appreciate Jeff's view point but just like any other man we have to give him a hard time!!! You said you were waiting for blood tests. Now I don't know a lot about Mosaic DS but if I am thinking right (which I might not be) You can have a negative blood test and still have Mosaic DS. The extra cells may show up some place else for example the skin, lungs, brain ect... depending on when/where the triplication occured. So you may want to ask your doctor about further more extensive testing. Connie Connie
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