question about trisomy 18/13

[babygirlava]

i tried to post this question under neonatology but for some reason it won`t let me post. i was woundering if there are any study`s about trisomy 18/13 towards finding a cure? i have been looking it up threw google and all i can find are studys that just show the cause and say that there is no cure. well are they working on a cure? it seems like this should be a priority since 1 in 3000 births are a trisomy baby and they deserve to survive. they smile coo to their parents and i can not find one single study that shows that someone cares and is working on a cure. i mean we can clone peole now why are scientist worring about cloning people instead of saving these beautiful babies that the doctors say don`t have a chance. i read one lady`s story and her baby needed surgery and the doctors were not permitted to repair the little girls heart because she was not expected to live for more than a couple months and she lived for 14 months with the messed up heart. this doesn`t seem fare or even humane. i mean if they are worried about money and how much it will cost to help these babies that just doesn`t seem fare. i mean if a death row prisoner who has murdered people and doesn`t deserve to live needs surgery they make the tax payers pay for it. i would rather pay what ever it takes to help these babies and start at least trying to find a cure. any disease you look up on goole you can find lots of research about potential cures except trisomy 13/18. are they working on a cure?????

[claire38]

oh sweety i am soo sorry that happened i was really hoping that you would have one of the miricle babies, i was really rooting for u and ur little one. but dont give up on haveing children if do still want another try again when your grief is gone for ur little boy. take it one day at a time. you will be in my prayers

much love
tiff

[martikadragoon]

I'm very sorry for your loss. I do not have experience with a loss, and my prayers are with you and your family that you find peace if possible.

When your life is done you will meet your babies in the clouds and they will be waiting for you.

God bless,
Cindie

[babygirlava]

just wanted to update everyone....it has been a couple of days because i was in the hospital and i did miscarry. my doctor is sending the baby to pathology just so we can know for sure what happened. this is my second miscarriage and i never thought you could feel worse after the first on but i was 14 wks this time the last time i was only 9 wks. i have decided that i will never get pregnant again. and to top it off it was a little boy and we really wanted a baby boy. my doctor let us see the baby and he was very small but didn`t look abnormal which i know doesn`t mean anything. i do wish i didn`t see him because he was so tiny. i had preemies so i thought i could handle it but this was way different. just thought i would let everyone know. thanks for all your support...

[JoyRenee]

babygirlava- I admire your courage as you go through this. I know a woman who knew her baby would die either before birth or shortly after. She had the choice to abort and chose to let her baby die when her body was ready. Because she had so many problems the doctors believed she'd die long before birth. It turns out she lived for 2 hours after she was born and I've gotten to see the video of this little angel after she was born and the time she spent with her family. It was so peaceful and serene. And the family will never regret the moments they got to share with her.

Everyone is different. If you want every moment possible with your baby, take it! I can give you the website of the video and of this particular woman's story if you want it. But I have to PM it to you as I'm not allowed to post it on the public forum.

[evthing4reason]

I was pregnant for 19 weeks when i had to have a medical termination due to trisomy 13. There were so many abnormalities i was given a 0% chance of making it to term, we did get a second opinion with the result being the same. I was induced and went through the labour, i could have had an abortion because the babe had stopped developing at 15 weeks. I also could've waited to see what happened. But the emotional termiol (depression, panic attacks, withdrawl from all frienships) that I went through after carrying the babe for 19 weeks, I couldn't imagine if I had of been feeling movement or even carried to term and had they babe die, i don't think i would've survived (i did have suicidal thoughts as it was)
it's a very personal desicion on what a person does
i can't imagine them ever finding a cure for something like yhat

[martikadragoon]

Ahh..> WHat are the kinds of soft markers your baby shows on Ultrasound?, because Ultrasounds only catch about %80 of trisome cases.... Since your so high risk, I wouldn't suggest an amnio until you are far enough along for the baby to survive on it's own.
I think your daughters are beautiful!

Do they have you on meds to prevent labor/contractions???

And You need to request that your doctor place you on bedrest in the hospital so you can be monitored 24/7. if he says no remind him he's there to FIRST DO NO HARM. Which is the physicians oath.   He seens like he's a bit lacadaisical (sp"?) or doesn't really worry about this pregnancy since he thinks the baby has a trisome.

The blood test screens aren't always accurate. I've seen plenty of cases where the blood tests indicate high risk, and the ultrasound shows a couple markers of a trisome but the baby is fine.

have you felt him/her moving around or kicking?

[babygirlava]

thankyou guys i`m glad there are some people who understand what this is like. i have had two preemies so i am used to the nicu and i am hoping that this baby makes it a lives even if its for a short time. i have already had two miracles as you can see from my profile pic of my lil girls then and now. my dr is a perinatoligst any baby i carry i am high risk. and i have not even had an amnio yet just abnormalities on ultra sound thats why i wouldn`t have an abortion yet anyways maybe the baby just doesn`t want to open his or her hands. and he didn`t even tell me what other things were wrong. i get another u/s next week. i am 2cm dilated and started spotting last night but that is kind of normal for me. it happened with the last 2. the thing that bugs me is my doc said he was going to put me on hospital bed rest at 16 wks when we thought it was a normal preg now its not on his list of priorities. i don`t want to bash my doctor he has gotten me through alot of things. i guess he just feels strongly about this. i think if he watched the 99 baloons video he would change his mind. he does say that he is mostly concerned for me because i have been threw alot. miscarried twins two preemies who both almost died from surgery.. i have been threw alot this past 2 yrs. but i know i can do this.. i took sadie with me to my appt so he could see my miracle baby that he delivered. i think he thinks that i am sure the baby will be fine and i don`t but i am not going to just give up hope since i have`nt had the amnio yet even he saidthe screening blood test will be done in two weeks. i`m not going to make any decision based on an ultrasound.

[martikadragoon]

I'm so sorry your dealing with this, you and your baby are in my prayers. I'd never encourage anyone to abort but doctors these days are always so quick to suggest it because the way they are taught it's a "fetus" not a baby, and they are taught in black and white not in shades of grey if you know what I'm saying. For them since it's not THEIR baby it's pretty clear cut since it's not on their concience and not a baby they love and care for.  And as for the people who ARENT doctors who suggest/agree with termination, much of the time they've never been in that situation so they can't know what your facing. When I found out about TJ, there was a MAN at my work who tried to convince me to terminate and told me all these horrible things about people with down syndrome not having any sort of quality of life, etc.etc.  He felt as though he had the right to push me to terminate, and to tell me I was stupid if I didn't. Til I blew up on him one day and told him off.
Claire38 is right, mosaicism's are rare, I only just recently got emailed by someone with a mosaic form of a trisome and before her I'd never spoken to or met anyone like that.. My personal belief is that ANY baby carried for any length of time, ESPECIALLY a child so special that has one of the more rare trisome's is a miracle and that the time they spend with us, either during the pregnancy or if they are able to bless us with any time following the pregnancy is meant to change our hearts and our minds in some way. Your baby is truly a miracle and a blessing no matter how much time you have him or her with you.

Claire38~ I'm very sorry for your loss, I can't imagine being in a situation like what you were in or what this woman is facing, only what I've been through myself and I almost didn't think I'd survive that.

[claire38]

i feel so much for you i could never have aborted/termainated my little girl either. i just wanted to help you to understand more i guess. i just dont want false hopes for u tho i was so hard the night we left the hopital with out my little girl in me safe in me i think DH and i cried together for hours. but plz try and keep in mind that the mosiac babies are even rarer than the regular tris are. and yes they are miricles. have you seen a perinatalist yet?

[babygirlava]

this is just really hard to deal with. and the websites are conflicting the tri18.org says their goal is to find a cure. all i want to know is if they are trying. everyone is telling me to abort. i have to preemies who made it threw alot of things and i want to keep the baby no matter what evn 1 min with my baby i feel would be worth it. i just don`t want to make the baby suffer. i have watched elliots video and also noah smurdon i watch them every day and those are the video`s that have made my mind up for me. in no way do i think that there is just an easy fix i just want to know that they are trying to get there some day. and i don`t like the word fluke i think of these babies as a miracle because they are not supposed to live to be born. fluke is not a term i would use even if thats a word the doctors use. i have been talking to some families with tri 13 mosiac babies and one is 20 years old and only has slight vision problems and dislexia but other then that she is happy to be alive. i just hate that everyone says just abort and have a new one. it doesn`t work like that. once you are pregnant you love that baby the min you find out and you can`t just replace a pregnancy period. and i was not trying to get false hope i was simply trying to find out if there will ever be a cure. and the thing about the surgeries is i reed a story about a baby on youtube and the baby was doing suprisingly well but needed open heart surgery and the insurance wouldn`t cover it because of the tri and some do live to be adults so if it won`t make the quality of less worse but it will make it better i believe it should be done. i just wish so many people out there didn`t have such a harse attitude and tell mothers to abort the baby that is hard decision for anyone to make and parents shouldn`t be pushed to do it. i understand my doc is more worried about me because of the fact that my babies are born at 27 wks and i guess that makes the situation even worse. but i can`t have an abortion......i went to planned parenthood and then left i could not do it

[claire38]

oops monosomy 23, anyways, perhaps the surgery is life threatening to the invidual. when i found out my little one had turner's the dr told me that IF i carried to full term and they baby could handle the stress of the surgery they could do them ONLY if she could handle it. does ur little one have 13 or 18?? as far as the fluke part yes sorry to say but when carring a child that has a abnormality as rare as 13, 18 , or 23 they say the pregnancy is a fluke. the mom is supposed to misscarry. the spcialist i saw said that only 5% dont miscarry. i found out at 20 weeks that my little girl had a cystic hygroma and hydrops due to turner's syndrome. the hydrops were so bad that i was given the chance at termination. (because it was life threatening to her). thankfully our little angel made the hard choice for us, and at 22 weeks i had a still born little girl.  i no it sounds a little heatless to call the baby a fluke but thats what the dr told me it really helped to know that i had nothing to do with the fact my little girl had turner's

[martikadragoon]

Edited to change : Instead of prolonging a happy life..... I meant a decent quality of life. I apologize. I realize in these situations, that most people have a tough time experiencing joy/happiness. I'm not trying to appear insensative

[martikadragoon]

I don't live too far from you, Hemet area actually.
Personally I believe in surgeries to help ppl with health problems relating to a Trisome, otherwise my son wouldn't be here. he had open heart surgery. I do not think claire's response was rude.

HOWEVER with some trisomes there are so many problems that would require surgery that instead of prolonging a happy life, it could end the life sooner, or even cause what quality of life that person has left  to disspear. this is IMO only. Each situation is different, and no two people are alike. So what may help one person's quality of life, may not help another.

Any kind of genetic way to fix a trisome is very far off, mainly because the trisome doesn't just affect a few cells in the body, it affects ALL of them in most cases and it's an entire chromosome not just a gene. I don't know if your facing a T13/T18 dx, and if you are I'm sorry. Check out something called

Godtube.com   a video named 99 balloons, Elliot's story.  

Although my son wasn't diagnosed with one of the terminal trisome's it was a rough ride considering he was my first and I was 21 at the time. This video gave me peace about whatever would happen with him.

[mikaleen]

For one I don't think Claire sounded rude at all, I think she came across as straightforward and honest about why there is not a cure for a chromosomal disorder.  If you want someone to feed you false hope then don't ask a question you don't want an honest answer to.  Nobody said they believed it all right to not offer medical intervention if there is a defect that can be fixed, but the fact of the matter is that with Edward's Syndrome often there are so many defects that repairing one will not change the course of the infant's life.  50% of the babies that are not lost in the second or third trimester are stillborn, with females being the more likely sex to make it to their first birthday.  You do not have to do anything you don't feel comfortable doing, that is why there is so much information available to you in aiding your decision.  Many people choose not to abort when they are faced with a life endangering defect, but let God and nature work how they will.  It sounds like you want to give your child every chance at life, but nobody can tell you that your baby will be in the small percentage of those who survive for a couple years.  
As for a cure there will likely not be one in any of our lifetimes, as the disorder occurs at the exact second of conception, and chromosomes in an embryo can not be fixed.  It would be completely different than manipulating the DNA of certain genes, genes can be replaced in some cases, chromosomes cannot.  I wish you lots of strength in your journey, and hope that you and your child are among the few who get to enjoy some precious time together.

[babygirlava]

so you feel it is okay not to give them surgeries because they will die? i know that it comes from messed up chroms. but i mean they can change dna/cjroms in skin cancer patient. how will they have a cure if they don`t at least try and figue it out. there is a little girl on a web site you can goodle children and adults living with trisomy 13 and some of the kids are almost normal and 20 yrs old. there is a 7 yr old that is perfect. so they do not all die. 5-10 percent do survive. and tri 18/13 is a little like downs but worse and they do surgeries for downs babies. they won`t repair a heart on a tri baby. and that is my point it seems wrong. and i never said once that they should just fix it like it is that easy. i cleeaarrrly said why are there no study`s showing that anyone is even going to try. and there are study`s showing that in some rare cases that the tri reverses itself before birth so that to me says there is hope....i am 13 wks with a tri 13-18 and everyone says to abort it doesn`t seem fair and you claire seem to be heartless and rude....thanks for keeping hopes up. please don`t reply back to me are my fluke baby..thanks anyway. my question was does anyone know if anyone is working on a cure. the tri 18 website says that is their goal....

[martikadragoon]

I agree with claire~ These problems occur at conception, so usually there's no way to know that it'll happen until AFTER conception. My son has T21.
However, I carry a genetic skin disorder with a K10 mutation where we produce skin cells 300x faster than normal and they are working on a cure with that because they just have to replace the missing gene.

[claire38]

if u indeed read up on these you would know that these diseases cant just be "fixed" the diseases are on a chromosomal level. same with downs syndrome which is trisomy 21 there are no treatment or cures same with turners syndrome which is momomy 23 no nothing. these diseases are just flukes when the baby is conceived no way to predict if the child will have it or not