what do you know about downs syndrome?

This should provide you with all of the info you should need. Can I just ask, have you had a screening test come back as high risk?

I suppose that before you consider amnio, you've really got to think through what you'd do if an unfavourable result comes through. Tough one though. Will try and write more tomorrow, cos I have to rush now.

(Could someone turn off that gif? It's giving me a headache)

as for the gif... why? if you were trying to make someone who was already feeling bad feel worse, congratulations. you win.

when talking to a different genetic counselor, she was told that they wouldn't have even raised the concern of downs in her particular case. so maybe it's worth getting a second opinion, just to see what another doc might have to say about your chances. (when she had her baby, the baby was healthy and free of down's or any other such problems)

i don't know anything more about it other than my friend's scare--best of luck.

but the most difficult obstacles she's faced have been low expectations. there was pressure when she was born to have her institutionalized, and my parents had to battle extremely hard to have her enter public school in first grade. there have been people all along who've insisted that she did not belong in a regular classroom. she's since gone on to graduate from high school, and she now has a community college degree. she's currently working very hard to find a full-time job and move into an apartment with a roomate. like other seemingly simple transitions, in her case they take a large support network, a great deal of coordination, many failed attempts, and frustration. but she keeps at it. she regularly gives presentations on down's syndrome to high school and college classes, volunteers as an elementary school teacher's aide, and is a day camp counselor in the summer.

she's the most determined and inspiring person i know. but it can be very hard. every stage has been difficult, and some have been bare-knuckle fights. of course, through groups and activities she's particated in, i know other down's syndrome kids/adults who are not as high functioning. but i also know others that are. there is a really significant range. and like i said -- she's awesome. i feel really lucky to have her for a sister.

anyway, i have worked with special-needs people for ten years and down syndrome kids can be difficult but ultimately so loving and lovable that i cannot overstate the benifets of working with them.

he has an uncanny ability to memorize movie scripts. as in, he can watch a movie a few times and then repeat the whole thing along with the movie while mimicking the characters' actions and inflections. he also LOVES baseball.

he's a very intelligent kid, but has had some behavioral issues. he often gets in trouble on the bus, but i think part of that is kids making fun of him. he gets frustrated very easily. he's a bit ocd at times (he has a bunch of action figures that he keeps arranged in perfect lines around him when he sits on the floor to watch tv).

and, he once set my grandparents' house on fire. my grandfather's a smoker, and he was always fascinated with the cigarettes. they'd caught him attempting to play with them before and had taken to keeping everything on top shelves, out of reach, etc., but somehow he got a hold of some. so we think he went under the bed to play with a cigarette and accidentally set the dust ruffle on fire. i don't think he realized what he'd done, but he knew he'd done something bad becuase he ran out of the room and closed the door and then when my aunt discovered the now flaming bedroom, he went and locked himself in the bathroom. anyway, the fire was contained to the bedroom and there was some smoke damage, but the house was ok. the next day my aunt brought him to see the burnt bedroom and again, he knew he'd done something bad, but i don't think he could put together the smoke under the bed and the charred bedroom.

i hope that story doesn't scare you too much, because honestly, it's something that any 8 year old kid could have done. most young boys are fascinated with fire, etc., and even the police and firemen said it could have happened were he not a downs kid.

he really is a great kid - very fun, kind, sensitive, energetic, and, when he's not getting into mischief, a joy to be around. i also think that some of his behavioral problems are less downs and more that he has a terrible family life (parents that should be but aren't divorced, father who does nothing and is a slob, and mother who screams and yells whether she's angry or not). he's turning 15 this year, and they're starting him out on sleepovers at a group home, as a way to give his mother a rest and also so he can start to get used to the situation because it's most likely where he'll end up. some people think that's sad, but i think it will be great for him to get job training and live his life among peers and people who understand him.

i think anyone who has experience with downs kids will tell you that they are amazing kids to be around and that they really will touch your life. freud junior's right - they are so loving and lovable that it outweighs all the times you want to pull your hair out because of them.

that was a lot. i hope it's not too incoherent and that it might help a bit. best of luck!

Read as much as you can, because ignorance is always scarier than experience.

Noodle Vague is damn right! Other thing is that 1 in 100 is still fairly good odds, so I hope this is just a lot of worry about nothing.

But if the worst were to happen, really ...it ain't the worst thing in the world. Hard work, but I do think that raising *any* child is a big challenge and anyone who thinks it'll be otherwise is deluding themselves. And keep talking to your partner about it, cos it can put a *lot* of stress on a relationship - you both need to be as positive as possible to try and deal with whatever situation comes up.

Best of luck

Best of luck.

Not very helpful, but it was something I just learnt. Didn´t know that age-related neurodegeneration could be related to down

If the amnio is positive you'll find a lot of support whichever you decide to do, Lo.

You and your partner are a team, you're there for each other, you'll get through this and it's probably nothing anyway.

this is really true. whether the test comes out positive or negative, you really don't know what kind of kid you're going to have. i think you're right that it's worth the relatively small risk to know in advance, so that if the child has downs you can read up, prepare, and make a more informed decision about whether that's a road that you want to go down. but downs doesn't mean any one thing.

my sister with downs has her driver's license, and drives herself to the store, to the gym, to class, etc. when a family friend who's been struggling with alcoholism had his license taken away after a DUI, she started driving him to his AA meetings every week. it was really funny, in a way -- and sort of illustrative of that fact, that you can't really predict what kind of challenges you'll face.

whichever way your test comes out, and whatever decision you make, best of luck.

About 95% of people with Down Syndrome have Trisomy 21, ie. 3 instead of 2 number 21 chromosomes. We normally have 23 pairs of chromosomes, each made up of genes. During the formation of the egg (or the sperm) a woman's (or a man's) pair of chromosomes normally split so that only one chromosome is in each egg (or sperm). In Trisomy 21, or nondisjunction, the twenty-first chromosome pair does not split and a double-dose goes to the egg (or sperm). It is estimated that 95-97% of the extra chromosome is of maternal origin.

The second type of Down Syndrome is known as translocation. It occurs in about 3-4% of people with Down Syndrome. In this type, an extra part of the twenty-first chromosome gets stuck onto another chromosome. In about half of these situations, one parent carries the extra twenty-first chromosome material in a "balanced", or hidden, form.

The third type of Down Syndrome is called mosaicism. In mosaicism, the person with Down Syndrome has an extra twenty-first chromosome in only some of the cells but not all of them. The other cells have the usual pair of twenty-first chromosomes. One to 2 percent of people with Down Syndrome have this type.(Cooley & Graham, 1991)

From what I remember, people with mosaicism don't always have the obvious physical features we tend to associate with the condition. But those are the only variations of Down's that I know of.

The one forum that I contributed to and found
helpful for my situation is at
http://www.babycrowd.com/forums/special_needs/

I would definitely advise to see a perinatologist if she hasn't
already.

"...crease on the hand,... Actually that last one is a big signs of Downs."

Just as a sidenote. I've got "the crease" on my hand. It can also just be a hereditory trait. My son has it and when our doctor saw it he kind of froze and then proceeded to look at my hand and then said "oh it's nothing" and then wouldn't tell us what it meant! Anyway, a friend of ours who is a doctor told us about it.

disclosure: Mr. Jaq knows both Greg and Ned