DownSyn Forum

MamaC8989 · Posted: January 29 2012, 11:55 AM Post subject: Update on us

We did get the results back for James apparently the doctor was only looking for FULL BLOWN DS so they want him retested for Mosaic. On dec 7th, I had my daughter. She was born with a birth defect (club feet), respiratory problems, she has the simian crease on BOTH hands, and is showing some facial features (the doctor recommends getting her tested for DS and Mosaic)

Here is a video I made last night of them

ENJOY!! And Feel free to share!!

https://www.youtube.com/watch?v=phG856VF_ms

AliMama · Posted: January 29 2012, 1:26 PM Post subject:

Beautiful video--thanks for sharing! Congratulations on the birth of your daughter! Sorry to hear that she has health problems. It must be frustrating to be without definite answers about your son still--hope you get some soon. Keep us posted--

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Maresa,
Mom to Alisa (10-29-2008) DS, complete AV canal repair on 3-6-2009

MamaC8989 · Posted: January 29 2012, 1:33 PM Post subject:

thank you. it is hard not knowing for the both of them, that is for sure. i just wanna know

logansmom · Posted: January 29 2012, 1:42 PM Post subject:

Great video - thanks for sharing. Hope you have some answers soon!
Kim

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Wife of Marvin
Mom to Logan (3/6/03, Ds) and Carson (9/6/05)

MamaC8989 · Posted: January 29 2012, 2:45 PM Post subject:

thank u

seansmom · Posted: January 29 2012, 8:51 PM Post subject:

Hope you get the results soon so you can move on and make a plan on how to deal with their health issues. It's hard being in limbo. Hugs

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Kellie Mom to Sean 10 yrs with DS and Carly 14 yrs

MamaC8989 · Posted: January 29 2012, 11:01 PM Post subject:

Thank you! Yes it is hard not knowing. We are going to continue testing until we get some answers!

DanielsMommy · Posted: January 30 2012, 12:25 PM Post subject:

Your children are beautiful!!

I wanted to share 1 piece of advice my ped gave to us. When my son was born, his karyotpye stated that "mosacism cannot be excluded'. Meaning, they found 1 cell with 3 copies of #21...but they cannot be sure that every cell would have it. Therefore, I can't say Danny has mosaic Ds...but I also can't say he doesn't. Our ped discouraged us from futher testing to prove mosaic because sometimes with that diagnosis, it's ALOT harder to get services. And, in the end...having mosaic Ds or plain old garden variety of Ds....it really doesn't matter. It all depends on what cells have the triplication. So having mosaic Ds doesn't really mean any different than having Ds....except you may have to fight harder for services. It's impossible to tell how a child will develop so keeping the door open to services is never a bad idea.

I wasn't sure by your post if you got a definite diagnosis of Ds and your futher testing to see if it's mosaic..or you had testing and it did not show Ds but you really think he has it so you are going back for more testing.

The test is the same either way.

Good luck and I hope you get some answers soon, it must be hard sitting and wondering.

_________________

Lisa - Mommy to Elayna 10-1-02 and Daniel (Ds) 6-7-05
Always have hope....Without rain, there can be no rainbows.

MamaC8989 · Posted: January 31 2012, 12:32 AM Post subject:

His test for full blown downs came back negative. they told me they werent looking for just a few cells and recommend getting him retested (i think he has it, my mommy gut tells me he has some form of DS) they also want my new baby girl tested as well because she is showing signs and she is not following objects with her eyes and not giving eye contact (she is 2 months) they think it could have to do with a chromasomal abnormality

Ginger in TX · Posted: February 02 2012, 11:14 AM Post subject:

Your children are beautiful! <3

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TheBradyBunch · Posted: February 02 2012, 11:32 PM Post subject:

Well....I watched your video, and if I could make a diagnosis based on looks alone, I'd say neither of your children have down syndrome. I don't see it at all.

I would also get a different dr for two reasons. Number 1, when DS is suspected the test should be done at birth, not several weeks later. Number 2, if they didn't do the test right the first time, and the fact that they call T21 "full blown" as opposed to the not "full blown" kind? You either have DS, or you don't. There is no in between. Yes, Mosaic doesn't effect EVERY cell, but the child still has DS.

Maybe I don't know what club feet look like, but your daughters little feet look like normal newborn feet to me...again though, maybe I just don't know what I'm looking for.

I would get a different dr. One who knows what the hell they are talking about.

On a side note, when Noah was a baby, he ONLY had the simean crease, there were no other little ones, there was no thumb crease, he ONLY had one straight crease across both hands.

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Mom to: Nicholas (May/02), Nathan (April/04), Charlene (June/06), Noah (DS, ASD) (May/07), Jesse Lynn (July/08 ), Tessa (Apr/10), Kaitlyn (Jun/12)

"Sometimes the things we can't change end up changing us"

MamaC8989 · Posted: February 03 2012, 1:19 PM Post subject:

for one, the pedi my son is seeing IS NOT the same pedi he was seeing when he was born. Immediately the first time she saw him she said "down syndrome!" Mosaic down syndrome DOES NOT necessarily have to look like "obvious DS" I have had MANY people tell me that he looks like he has it...and my daughter DOES have club feet. She even has casts...definitely not just "newborn feet" I kinda know what NB feet look like, as I have three children. I didnt say they def. had DS but its def a syndrome as the simian creases, the toe gap, the facial features...I dont mean to get offensive but I know my kids and I know when something is going on. Please dont tell me based on the video that they dont look like they have any of things becuz the club feet was diagnosed by a Peri before birth and by my ob, and by her pedi and orthropaedic. Like i said i dont mean to get defensive its just they are my kids...i think i know

Here is a better pic of her club feet b4 the casting-

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james and his baby sister Laylah-Grace-

James-

Laylah-Grace--

TheBradyBunch · Posted: February 04 2012, 12:55 AM Post subject:

You're on the defensive.

I said I don't know what club feet look like. I also know what newborn feet look like, I have 6...I have never seen club feet...like I also said.

I know all about Mosaic DS and how the features can be much lighter because it doesn't effect every cell.

I'm saying the Dr who ordered the testing doesn't know what they are talking about because of their terminology and the fact that Mosaic wasn't tested for. I didn't say anything about you knowing, I'm talking about your dr.

I have a bit of experience with dr's who are clueless....look for my previous posts, I have hundreds, and many about struggles with doctors who just don't know enough. I have changed dr's, on more than one occasion. My son also has autism and significant feeding issues. You don't need to be defensive, I wasn't attacking you.

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Mom to: Nicholas (May/02), Nathan (April/04), Charlene (June/06), Noah (DS, ASD) (May/07), Jesse Lynn (July/08 ), Tessa (Apr/10), Kaitlyn (Jun/12)

"Sometimes the things we can't change end up changing us"