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Trying since long:To Archie and anyone who's willing to help
2005-11-21
Name: Sathya



Hi Archie,

First of all I'd like to let you know that I have read almost all your posts and hats off to you for the help and guidance you are giving to everyone in this board.
I have some questions and I would really appreciate it if you could help me.
I am recently diagnosed with translocation (an uncommon chromosome abnormality which affects 1 in 500 people). My doctor didn't give much information on that. She just told me that early miscarriages and infertility is common symptoms for this condition. Also, she said that there is no cure for this condition, some women go through 4-8 miscarriages, before having a healthy baby and some won't have any problem and go on to have healthy babies.
Little bit about my history...I am 30 yrs old. We have been ttc for 4 yrs; along the way, I had three early miscarriages. The only good thing is that I do get pregnant fairly quickly...keeping the pregnancy until terms is the problem.
My questions are..
1. What are my chances to get a healthy pregancy in the future?
2. Do anyone know anybody who has the same problem?
3. If I do conceive next time and go on to carry the baby to terms, will the baby be healthy (meaning without any chromosome abnormalities like down syndrome etc.)
I would really appreciate any help.
Thank you so much for taking the time to read my post.

God Bless you all
Love,
Sathya
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2005-11-22
#1
Anonymous Name: archie
Subject:  comments



Dear Sathya,
Sorry to note that you are victim of chromosomal abnormalities. Sweetie chromosomal abnormality is such a loose term and can not be fine tuned. It can not also be related to investigated factors for genetic disorders during pregnancy because the screening during pregnancy is not full analysis of genetic defect but about those who have been a strong and highly prevalent common disorders. To name would be downsyndrome or chromosome 18 trisomy. There are 100s of genetic disease(s) and more are coming our way yet people are not concerned because they are not as prevalent.

With this background let me focus on your major three points:
1. can you have a healthy pregnancy,
sure you can but remember you are prone to early miscarriage so utmost care is essential until completion first trimester and even in the first few weeks of second trimester (say up to 20 weeks)
2. it's rare and perhaps transloaction is common 1 in 500 but the impacts would not be same as you may imagine because as explained earlier it's a loose term. Consequences will depend on what type of abnormality you bear. Which is complicated to know. Simple thing would be to accept what you have and not to wonder on how to rectify -because just not possible. One thing is possible to take more care and you should because you know what you have.
3. your baby can be healthy. Have you heard term carrier? This is a term for any genetic factors. Because baby contain half chromosomal content from both parents. If the mutation (chromosomal abnormality) is not dominant then offspring carrying half part bad and half good would not face consequences. Means if your spouse is healthy with reference to same chromosomal location then there is as high as 75% chances for a healthy baby of that 50% for carrier and 25% for absolutely healthy. I don't think your abnormality is confined to Downsyndrome though.

Additional
because you are already around 30 years age the genetic screen in detail would be good idea when you get pregnant.

I know in parts I have helped understanding genetic terms but at the same time may have hurt your feelings. I am sorry for that but this is the best I thought for scenario.

Archie
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2005-11-23
#2
Anonymous Name: Sathya
Subject:  Thank you very much Archie



Hi Archie,

Thank you very much for your insight. No, I am not hurt any of the things you have mentioned. I am actually glad to be aware of chromosome abnormalities in details.
Thank you again Archie,
I really appreciate your help.
Love,
Sathya
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2005-11-21
#3
Anonymous Name: Sunshine
Subject:  Hi Sathya,



I haven't heard about your condition... and there is no way for me to give you any advice.. But I just wanted to say that I can't even begin to imagine what u must've gone through...
Just know that HE's watching & listening... I'm sure that HE will definately make things good for you...
May God bless you and always give you strength.
This is my prayer for you.
Loads of baby dust to you...
With love,
Sunshine
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2005-11-22
#4
Anonymous Name: Sathya
Subject:  Dear Sunshine



Thank you so very much for your thoughts and prayers..it means a lot to me. Yesterday, I posted my message and kept looking for any replys. All I wanted to know was little bit more info about 'translocation'. Meanwhile, I did call my genetic councelor after saying a small prayer. And I got answers from her for almost all my questions. I just want to share it with you just in case if you ever come across a person like me I know that you would really want to help her.

The condition I am diagnosed with is called "balanced translocation". It is a type of chromosome abnormality. It's fairly uncommon, but it can accur to both male (sperm) and female (egg). The person who has balanced translocation looks normal and quiet healthy. The only symptom is infertility and/or recurrent miscarriages. When the person have a baby, it's very possible that the baby would have translocation too. But,the only problem the baby would face is to conceive or keeping the pregnancy when he/she grows up.
I took a blood test on last thursday to know exactly how serius this condition for me. I will get the results only after two weeks. But thruogh the results, I will know for sure my chances of having a healthy pregnancy next time. I will keep you posted then.
Thank you again Sunshine for everything. I totally agree with you that God is watching and listening what we are going through. He is just waiting for the right time to bless us all.
God bless you and everyone in theis board,
Love,
Sathya
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