Anyone know anything bout chromosomal prob's

Hi all,
need some info, Just got a call from genetics counsellor today ( I hate it when she calls):angry:
She said the full amnio results I had have detected a "rearrangement of chromosome 16" and she want me and DP to come in tomorrow for blood tests. If one of us has same rearrangement then :babyboy: is fine. If neither of us has the abnormality then there a problem. Upon internet searching I found that if this is case then either baby will die either during pg or soon after birth or will be born with varying degree's of mental retardation, heart, lung probs etc.

I really feel this pg is jinxed!:wall: This is second time in 2 weeks That geneticist rang me to say theres a problem. I was just starting to get excited about he pg too!:cry:
Anyone with any advice or suggestions??

I'm sorry ALR. That sounds like an awful thing to worry about. At least you don't have to wait too long to find out more - I'm sure they'll rush the test results through for you. I hope you get some good news from that. I don't have any info for you, but my thoughts and prayers are with you.

Thanks MelanieR. I'm just a bit sick of the rollercoaster ride. I dont want to talk to the genticist tomorrow, last time i spoke to her she was telling me to have amnio based on my 12 week blood test which showed 1in 6 chance of baby having downs. She only finished telling me that before she started on me about when i would be terminating!! I hadn't even spoken to DP at that point!. I just know she's gunna start with the termination talk again.
Dammnit I just want to enjoy this pregnancy!

my toughts are with you ... i hope you have good news ... i really do ...
it must be tough waiting .... hang in there
hugs

Hey ALR

So sorry to hear about the phonecall...you poor thing...

Hoping that everything is okay, that results come back incredibly quickly and that you can get on with enjoying a wonderful pregnancy filled with many good things...

You're in my thoughts, chickie!

Thank monnie & nixonsmama
I emailed one of the administrators about setting up a pg journal now i dont know if i should have! Sorry monnie but I just couldnt bring everyone esle down on the other thread by saying wat was wrong. I keep trying to keep positive but I stupidly looked at the internet. :throw_computer:
Now all I can think of is I may lose this baby! I feel like to odds are not on my side.
Apparently the test re4sults wont be known til next tuesday!!!!!!!

Ohhh ALR...really feeling for you...a wait til next Tuesday is awful...but you never know, they may be able to hurry it up...let's hope so...

And more than anything, let's hope this is just a false scare...getting a BFP on mother's day is something very special and I so hope it's a wonderful sign for not only a wonderful pregnancy but a beautiful little person who brings much joy...

Take care!

Hi ALR, I just came across your thread.

Just wanting to let you know I'm thinking of you, I wish you all the best that the scare is false & I have my fingers crossed that everything will be ok.

Take care

Thanks monnie...
I realise you have presssing things on your mind (ha ha pressing.. Ziggy!) hope he/she makes an appearance soon. I have met so many wonderful ladies on BB that (and sorry if I get emotional saying this) Since losing my mum, this place is the only place I feel i can get unadulterated acceptance for how i feel (good or bad). I used to talk to mum every day.. now i just get on BB. feels kinda like having hundreds of mums! DP doesn't really understand the fullness of situation yet, but will probably know when the genticist gets her hands on him tomorrow!
You are in my thoughts too, hope for Ziggys imminent arrival.
I have put all baby purchases onhold til next week.

ALR, Just wanted to pop in and say good luck for today, and I hope you get good news as the week goes on. It's the genetic counsellor's job to lay out all the facts but if she is not being supportive/sympathetic or if you feel you are being pressured, you are well within your rights to ask for a different counsellor.

But most of all I just wanted to offer you my support and a big :hug:.

gosh ALR you have had a tough ride, I hope the test results come back OK and I can only imagine all that is going through your mind. My thoughts are with you. Please let us know how you get along today and on tuesday.
BTW it isnt much consolation but lots of times I have looked things up on the net only to findout the situation isnt as bad as google etc would haveme believe. I hope this is the case for you.
My thoughts are with you.

ALR,
Oh sweetie... I am so sorry to hear that you are stuck in limbo at the moment.
I will tell you one thing though, the internet is the worst thing when you find out there could be something wrong!!! It is a great tool for info any other time.

The thing I always tried to tell myself is that most of the things on the net were worst case scenarios.

It sucks that you have so long to wait to get some answers. I have everything crossed for you that things will be perfect and in a few more months, a perfectly healthy and beautiful baby will have you for his/her Mummy.
You're in my heart and thoughts:hug:

good luck with everything alr xox

Thanks for the support guys,
DP and I went to appointment today GCounsellor was "how do you feel?" How the hell did she think I felt. She explained again for DP so he could understand. We had bloods taken and yes they ARE rushing them through for tuesday at the earliest. I have my 18-20 wk scan booked for monday with the "top ultrasound" specialist. I dont want to sound snobbish but all this waiting is because I am a public patient. When i was a private patient previous i received appointments and scans etc immediately. I didnt want to go public this time but after losing my job i had no choice.

I have found that this Chromosome 16 abnormalities are the leading cause for recurrant miscarrage in women. I just hope that either DP or me have this abnormality as then thast will mean baby is fine but if we dont then the bad news awaits us.
thankyou all for you thoughts. I couldnt wait to get back from appointment to check msgs from you all.

Oh ALR, you poor sweetie. You must be emotionally exhausted. I will hope and pray for you that you get some good news results very soon. Hugs to you.

Just try and keep taking care of yourselves?

And carry on using BB as your support. xx

thank lucy,
I am exhausted... I just wanna get through this. maybe I have shut off and that why I've lost all interest in looking at baby stuff or talking about this pg. I didnt sob and get distraught like last time.. mind you that was only a week or so ago. I will try a keep my chin up.. atm it helps focussing on others journey on BB. keeps my mind off things.
Told my sister today about blood results. I have 4 sisters but only 1 talks to me now after something I apparently did after my fathers death in Feb. Apparently I made them look bad because I was so distraught. I dont care any more really. they can think what they like. My younger sister is good... she's been checking on me (she's the one who decided I should finally buys stuff) I'm sure she maxed out her credit card going shopping for me & baby.
Anyways its just wait and see now

Hey ALR

Hang in there, chickie! Good news that you have the best ultrasound specialist looking after you on Monday...

I know it's such a long wait until Tuesday...and I can only imagine some of the feelings that you are experiencing at the moment...but just know, that we are thinking and praying for you...that all will work out beautifully...

Sorry to hear about your losing your job...the public system is very frustrating, isn't it? I was public when I had some gyn. problems and it was just so difficult waiting for so long...

But hoping that after Tuesday, all will be okay...and that you can get on with just enjoying your pregnancy and nurturing your little one...

Take care.

ALR,

:

---

maybe I have shut off and that why I've lost all interest in looking at baby stuff or talking about this pg

---

Honey, I think this is natural/normal. I know when I was in the waitinging period for both my amnio (with Charlie) and my CVS (with Lexie) that I totally "switched off" and "hardened" myself for a few weeks. Natures protection method perhaps?

Either way, just keep taking care of yourself.

ALR, just wanted to pop in and let you know I have been thinking about you all week, and wondering how you are.

Marydean

Hi ARL,
I would not panic as yet. It depends on what exact rearrangement has occurred? I am not sure from your post what has occurred? A chromosomal rearrangement can take many forms for example a translocation where part of a chromosome ends up on another, or an inversion where the genes on the chromosome get shuffled. From what you have said I don't understand how it would be good for both of you to have the supposed 'abnormality'. If what you have said is correct here, i would assume its rearrangement of the genes on chromosome 16 so if you both have the same rearrangement its okay as the alleles that come together to make up the gene (one from each of you) will align. This is all i can really say given the above. Don't worry too much - what will be will be and things happen for a reason. I wish you all the best and hope everything works out.

I just wanted to say good luck.. I just came across this thread now.. I hope you have good news

ALR:
im praying for you hun !!
thats all we can do for you till you come back and tell us either way ... i bet all us ladies are checking everyday for a post from you , so we can load you up with support...

how is dp... do you think he knows the real truth but is too scared to think about it ?? i hope you are strong together.. my thoughts are with him (and you ) aswell

*hugs*

Hi ALR
Just wanted to check in with you and see how you and DP are going.
Thinking about you and hoping you've had some better news.
Come back to us at BB when you can,

Hi ALR
hope you have had some good results from the ultrasound and the results of your tests.
am thinking of you.

Hi all
sorry I been away.. needed time to get my head together.
Firstly U/S on monday went well with specialist saying bub was "structurally fine"
Spoke to second geneticist tuesday ( she was ALOT nicer, I explained how i was feeling pressured and she was very respectful) however test results did not come in til wed's day (Had to wait another day for them)
Final results were good... Craig my DP had the "rearrangement" which meant that bubs second Chromosome from him also had the extra bit. Nixsonsmumma, yes I did alot of reading so I was aware of the different kids of rearrangements. Craig appears to have "extra" DNA in his chromosome 16 but it is in what they said was the "junk part' of it. This meant that it was harmless. When they showed us bubs ch16 it showed 1 normal one and one which had an extra bit in it. The reason i was hoping that either Craig or myself had this extra junk was because it would mean bub just inherited it from us. The alternative meant that something had gone wrong in conception with bubs dna and that would mean a range of prob's from physical malformations (cleft pallette, abnormal forhead, club foot, heart and or lung probs) as well as intellectual disability.

I was so releived about the positive results that I forgot to pay my phone bill and was cut off for a couple of days. I cant thank you all enough for your support. pls excuse any mistakes i make today have a splitting headache.

ALR - big big :hug: of relief for you! So happy to hear everything is fine with your little one :). Hun take good care of yourself, it'll take a while for stress to wear off I think.

Again, soooo happy for your good results, wishing you a happy and healthy remainder of your PG, you can start enjoying it now!

ALR - I'm so glad you got a great result. Enjoy the rest of your pg!

What a relief!
Hope you guys can relax and enjoy things now.
all the best

Congratulations ALR!!
Hope the rest of your pregnancy is stress free!!

great news ALR all the best for the rest of your preg

just wanted to pop in and say thankyou to all of you for your support and concern. I went a bit depressed for a while but am getting better now. With all the ups and downs with this pregnancy i suppose it would have been unusual if I had'nt responded to all the stress. Will pop in from time to time and check on you all. thank you

its good to hear from you ..... hope you are well .... are you and dp getting excited ????

Dear All,
Just wanted to let you all I am alive a well. Lewis Robert was born 2nd January (a healthy boy) 6lb 7oz, 49cm Long. I will attempt (if possible) to post some photo's, but I am not very technical so who knows.

Thank you all so much for the support I dont think i would have gotten through everything without you all.:hug:

Oh ALR, I am so happy to hear about the birth of your beautiful little man Lewis Robert!!! Enjoy every second of him hun... can't wait to see his pics :hugs:

:Dcant wait to see pics of him !! hope you are all happy and healthy !!

ALR -CONGRATULATIONS! I was delighted to hear about Lewis Robert's happy arrival, :happyforyou: and I hope you're all settling in to family-dom and getting enough sleep! :D

Great to hear from you again ALR and congratulations on the birth of your son!
All the best

congratulations ALR, i'm so happy for your family :)

Lewis is a beautiful name too! ;)