# Newbie – Translocation. IVF? PGD? Help need some advice ^



## E.m.m.a (Mar 2, 2007)

Hello I’m new here and I guess like every newbie am looking for a bit of advice and some pointers to sources of more info. This is going to be a little long – sorry!

Not quite sure if I’m in the right place to post or even where to start. Apologies if any of this upsets or offends anyone, this is certainly not my intention. DH and I have been blessed with a gorgeous son but sadly he passed away on the day he was born  due to a genetic condition - unbalanced translocation t(11;22). We are absolutely devastated by his passing . This was only 4 months ago and I have been doing much research to try and understand more about his condition. I am not looking for bereavement support here; we have luckily been put in touch with a number of such charities and organisations.

In reading all the medical literature, I now realise that we are at the very beginning of the long and emotional rollercoaster if we are ever to be blessed with another child. One of us (though with all probability it’s me) has a balanced translocation – we have a date for our detailed genetics appointment but it is not until the end of April. I am distraught as I start to learn what our type of translocation means; if we are fortunate to conceive again (very unlikely), we are doomed to repeat miscarriages as my body would reject any affected embryo (high percentage probability) and even if we were able to progress to a viable gestation our child would most likely not survive .

I have been in contact with another lady in the US affected in the same way and she has been told she has two choices if they wish to have a child – either IVF with PGD or adoption. I know no two cases are ever absolutely identical but in my heart I know that we will be told the same. We would very much like to have a child at home with us, our arms are so empty and we have so much love to give.

 I am hoping that some of you may be able to give me some advice/pointers as I'm very confused about all of this; I just want to be as prepared as possible for our genetics meeting as my body clock is already ticking. I guess the most important and critical question I have is whether IVF with PGD is available/an option for those affected by balanced reciprocal (non-Robertsonian) translocations in the UK (NHS or private)?

After that there are a million and one questions going through our heads: What are the acceptance criteria? Is it available through our local Hospital Trust? How do we get referred / apply? Is there a waiting list? Typically how long is it between referral/acceptance and fist cycle (assuming good health, etc)? I had a caesarean, does that affect our chances with IVF? I guess many of these questions have been asked and answered on here before – I will have a search to see what I can find.

We would be grateful for any information and guidance that you can give us. Wishing everyone the very best for your own journeys, Emma xx


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## MissTC (May 8, 2006)

HI Emma,
Welcome to the site honey 

I am so sorry to hear your problems  you are having a rough time 

I havent got time at the mo to do a detailed reply to you honey, I am hosting NEWBIE CHAT NIGHT at 8pm tonight in the chatroom so I have to dash off.

However, I have done a search on Translocation and found this thread http://www.fertilityfriends.co.uk/forum/index.php?topic=78298.0 It probably doesnt answer all your questions, but the ladies on there seem to know about this and will probably be able to further advise you honey. You might like to post a message there?

Also, try our Investigations & Immunology Board http://www.fertilityfriends.co.uk/forum/index.php?board=52.0

I will be back later to finish off this reply 

If you are still online, why not join us in the chatroom at 8pm for NEWBIE NIGHT?

Love and hugs
Tracy
xx


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## sharonw (May 13, 2005)

Hi Emma,

My name is Sharon and my husband and I are doing our 4th icsi cycle. My husband was diagnosed with a low sperm count and had a Karyotype test done to see if it was genetic based. It took about 7 weeks to come back as they have to do cultures etc on the blood. My husband has a balanced translocation of 13/14. I have had one m/c on 2nd icsi. These translocations can be complete freaks of nature hun. neither of my husbands parents has it. It is what they call de novo a freak of nature. 

My advice would be for both you and your hubby to have the karyotype test done and see what comes back. Your babies condition could just be a complete freak of nature hun and there may not be anything wrong with either of you.

Do your parents have a translocation that you know of as they can run in families also. 

Before you send yourself loopy hun have a look on the internet the chances of a balanced or normal child are quite high dependant on the chromosomes that are effected.

WE only have a 1% of an unbalanced pregnancy with the chromosomes involved in my hubbys mishap genes.

Talk to your doctor and get some good advice. You may find that you are dispairing about the future unneccesarily.

I am so so sorry for you very sad loss hun. I do hope you get some good news.

Best of luck my thoughts of with you

take care

Sharon

xxxx


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## E.m.m.a (Mar 2, 2007)

Thank you all so very much for your kind replies, you've got me sitting here in tears because you're all so very kind and understanding.

I will read the links (thank you for these Tracy, and perhaps I will join the chat next week, it's already been a little too much for me emotionally today) and am researching as much as I can. There is such varied information our there on the www though and it's all very heavy going and confusing. Our bloods were taken 9 weeks ago and we know that one of us is a carrier as they've booked an appointment with us in April to discuss details. We have no idea if we are the ones that are de novo or whether one of us has inherited from our parents - we haven't told them yet and so they haven't been tested. We will have that conversation with them soon.

Sharon - I had no idea the risks depended on the chromosomes involved, I will try and find out more about this then - perhaps I haven't been specific about looking at our particular chromosomes. I am also very sorry to hear of your loss .

I just really need to learn as much as possible in the next 7 weeks before our genetics meetings so that we can start making informed decisions. Again, thank you everyone for taking the time to read my post and reply. Emma xx


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## LizzyM (Feb 12, 2007)

Emma, 

I just wanted to say how sorry i am for your difficulties and loss of your beautiful baby  

I hope you find FF as good as everyone else does.

May all your dreams come true huni.

Love and    and   

LizzyM xxxxxxx


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## Jinty (May 6, 2006)

Hi Emma, so sorry for all you've been through. I can't begin to imagine how you've coped. I'm not sure how much I can help. I've had two IVF cycles (due to my hubbies low sperm count) both positive and both ending in miscarriage. Following the second one we both had chromosome testing. My husbands was fine but I have a mosaicism, meaning in some of my cells (only 4% in my case) there's a missing X. We've been advised that we should have PGD on our next cycle.
I'm not sure of the NHS options as we didn't go down that route but in the private sector there are a number of clinics that offer this. My clinic (ARGC London) is one as is the Lister in London. It costs about £2k on top of the cost of the cycle which including drugs etc. is approx. £5k.
In terms of referral etc. it's no different to just going for IVF (just make sure you pick a clinic that does PGD) as PGD is just an extra stage that happens after egg collection and fertilisation. Therefore you need to pick a clinic and ask your GP to refer you. Once you have your consultation at the clinic they will explain everything from there.
Big hugs for you and look after yourself   
Jxx


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## E.m.m.a (Mar 2, 2007)

Thank you all for your replies and advice. I did not realise that there were more posts, I have not been on for a long time as we have found the last few months very hard.

We have had many geneticist meetings and we now understand what the implications are for us. Although IVF/PGD is possible, they suggested that we try naturally and only think about IVF as an option for the future.

Well we have been thinking positive and doing everything we can.... and I am now 8weeks + 4days  naturally . We and our consultants are stunned! I know it is still very early days (especially considering that I have something like a 65-70% risk of miscarriage) but we are being very positive  . I just wanted to come on and say that there can be some hope for people with translocations.

Wishing you all the very best, may all your dreams come true too  

Big hugs xx


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## Caz (Jul 21, 2002)

Congratulations Emma!



I wish you a happy and healthy pregnancy. 

C~x


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## dakota (Feb 6, 2007)

Congratulations hun on your BFP   

Have a happy and healthy pregnancy

Huggles
Nikki


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## emsy25 (Mar 18, 2005)

Hi,

Just wanted to say hello and welcome.

Emma
x x x x


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## Kamac80 (Nov 24, 2005)

Hi *emma* and welcome to the site 

You have come to a fantastic site full of advice and support and you have been left some great links to try out.

I wish you loads of luck with everything.

Kate xx​


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## 4timelucky? (Oct 11, 2007)

Hi Emma,

I've just come across you thread.

Congratulations!!! It's wonderful hear your news.

My husband has a balanced translocation of 18 and 21.  We only found out after losing our son Max at 24 weeks in 2003.  We now know this was inherited from his father.
We've had 4 attempts at PGD and all have been BFN.  We are now tyring naturally.  Your story gives me hope.

I have my fingers crossed for you that your baby arrives safely.

With best wishes 
Jayne


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