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Positive harmony

47 replies

Blackcherrysundae · 12/03/2016 10:30

Last night the private consultant phoned me to report my 10 wk harmony test was 95% +ve for T21. This was an unplanned pregnancy child no 3. We have 2 healthy boys age 5 and 2. I am 39 1/2 years old.
This situation really sucks! We can't take any action/ make appts as its the weekend. We need to access copy of results from private secretary on Monday then convey a copy to our NHS provider to facilitate a consultation and further tests - nuchal and poss CVS. We don't have a named consultant on NHS only number for midwife clinic so not sure how this will all run?
We are certain wedon't want to parent a child with T21. There are many reasons why and I'm not looking for advice or support to influence that decision.
I'm just wondering if anyone has experienced this situation? What other tests were you offered/ did you have?
Did you have a termination? Was it surgical? Or medical?
I'm sorry if I sound blunt and overly pragmatic! I don't wish to offend any readers who themselves have a child with DS or know someone with DS who they are close to. I just want to survive this ordeal for sake of my husband and children.
This has been a difficult pregnancy to date. Intense nausea and fatigue. The worst thing is I still feel so sick and my bump is steadily growing!
If this doesn't work out we won't be having any more children. I so want to move forward and celebrate what we have already been blessed with as we are really so fortunate.

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Blackcherrysundae · 14/03/2016 17:34

Just to update you.
Today I managed simultaneously to access care in 2 hospitals. The NHS has come to my rescue in fantastic ways and for that I am grateful!
I saw my GP at 10am who promptly faxed a referral to Luton the NHS base of the private consultant to request my care is transferred there.
In the meantime the senior midwife from Barnet called me back and I met with her later for to take my booking bloods. She secured me a cvs test at uclh fetal medicine centre for next Monday.
1hr later a lovely midwife from Luton called to say I could have the cvs done there tomorrow at 9am.
So I'm off for that procedure tomorrow. Results will be back by end of week.
The plan is for termination (if this is required) to take place in advance of Easter weekend.
I'll keep you updated. Thank you for your lovely messages, your advice and support and most of all for sharing your own personal stories and experiences relating to Tfmr.

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potap123 · 14/03/2016 18:01

This reply has been deleted

Message withdrawn at poster's request.

KittyandTeal · 14/03/2016 18:01

Wow, that's really quick. I won't say wonderful news because that's not quite the right sentiment but I'm sure you get what I mean.

The NHS gets a bit of a bashing these days but I have to say my care through both of my difficult pregnancies (and with dd1, I just noticed it less) births and after care has been incredible.

that reminds me I need to get some thank you cards and presents

Fingers crossed for quick results.

Have you thought much about medical or surgical route?

AveEldon · 14/03/2016 19:09

Good luck, glad to hear you are getting the care you need

Blackcherrysundae · 14/03/2016 20:18

I know kitty I'm thinking of sending a gift to midwife from Barnet as she was pretty amazing. Whether I actually get round to it is another question

I really don't want medical termination but I suspect they will be recommending this as I understand it's "kinder to your body" so said midwife earlier today..

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TheDisillusionedAnarchist · 14/03/2016 20:52

Please to hear that all is in hand and so quickly!

KittyandTeal · 14/03/2016 20:54

If you are within the gestation limit for your trust go for whatever makes you more comfortable. Don't let anyone pressure you in to it.

Medical may be a bit kinder but your body will recover physically, you need to think about what procedure will be best for you mentally and emotionally.

I didn't have a choice with either but after having to deliver dd2 I knew if anything happened in any other pregnancies I would want a medical management because I got to see dd2 and ds, have photos and prints done and spend time with them. I needed this to be able to grieve and feel like I'd completed the circle.

You really do need to do what is right for you mentally. Id say physically you'll get over it. After a medical management I'm still on hardcore antibiotics with normal afterbirth pains and possible retained products. I'd say they are hard physically in different ways, however, I've never had a surgical management.

As well as card and presents for those imidiately involved I contacted pals with the names of the additional people involved with my care and specifically asked that I wanted them thanks and for my comments to go on their employment file if possible because I was treated so well start to finish.

I will be doing the same. Especially for the doc who came in on a day off to do my bloods and give me the first set of meds and then came and saw me on every one of his breaks the day I delivered to check on me.

They are people that you will never forget.

Blackcherrysundae · 15/03/2016 12:43

Update:
I had my CVS today. I also had a nuchal. Nuchal neck normal but no nasal bone (yet).
But my situation is more complicated then we had thought and hoped.
The harmony lab people have recommended fetal and placental mosaicism are excluded prior to deciding whether or not to terminate. My result was very high risk -95% but less conclusive then typical.
Although the hospital can report the PCR by Thursday they have advised delaying decisions and actions until they have the karyotype which takes 2 weeks! Then if both are +ve for T21 we can be pretty certain we have a diagnosis.
If there is inconsistency or even if both are normal the next step will be amnio.
So we are faced with more waiting and uncertainty. I am really not feeling hopeful. Mosaicism Downs can often present very similarly to standard presentation with same complications.
The scary part is that I am starting to disengage from the baby ( as a defense I'm sure). The fact that I'm disengaging together with more waiting is tormenting and confusing!
Anyway that's me. I'll keep updating..

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KittyandTeal · 15/03/2016 12:51

Oh gosh. That is a long wait.

My understanding of mosaicism is that is can, and more commonly does, present in almost exactly the same way as the trisomy but in some cases can result in a much less sever form.

I have no personal experience of a cvs, I'm presuming as it is practically a placental biopsy that it cannot rule out placental mosaicism.

How far gone are you? A normal nt is hopeful, however, I also had an almost perfect nt measurement with dd2 who had T18.

I understand disengaging, I did the same. I started seeing dd2 as something totally unconnected to me. It is a defence mechanism and entirely normal. If your results do come back clear and you continue with the pregnancy (or if they come back with a diagnosis and you change your mind and continue) then you still have a long time to re-engage and bond with the baby. I know at these times we worry about all sorts of things but try not to let this be one of them.

KittyandTeal · 15/03/2016 13:16

If I've fully understood that link about diagnostic testing it is wildly inaccurate! There is a chance I have misunderstood and my head is a bit of a mess.

A cvs will give an accurate diagnosis is cases of non mosaicisms.

An amnio gives a dull diagnosis. As far as I am aware (and I have spoken to quite a few fetal medicine specialists about this) you do not get a false positive from an amnio.

Worst case scenario cherry is that they cannot rule out mosaicism and you have to wait for an amnio. Not ideal but you will get an answer in the end. Trust the doctors, they know what they're talking about.

ShangriLaLaLa · 15/03/2016 22:48

Hello

So sorry that you find yourself in such a distressing situation. I've terminated for T21 twice and found the posters here to be a fantastic support in those dark days.

I echo all that's been said by so many knowledgeable posters. I've gone for surgical management both times, once at a slightly later stage of 14 weeks (practically the cut off for our trust) so feel free to contact me if you eventually need to. On the advice to wait for full karyotype, our NHS trust were reluctant to just accept PCR alone and asked us to wait another fortnight for karyotype results. However, our PCR was performed by Prof Nicolaides and reported on by his labs. It showed positive for T21 and that was sufficient for me to make an informed decision. We really had to argue quite strongly that we didn't feel that (in our case) the delay for additional confirmation was necessary. I do understand why they need to be so cautious and appreciate that many outcomes may be more complicated.

I practically lived on these threads between 2007-10 and they saw me through. I'm sure you'll find limitless support, whatever road your journey takes.

Blackcherrysundae · 16/03/2016 06:31

Hi Shangri,
How did horrendous situation happen to you twice? Were you and DH/DP tested for carrier status? My heart goes out to you and I admire your amazing strength! Do you have other kids?
I am drawn to your experience of persuading the medics to support your wish for termination based on cvs pcr. I discussed this with DH as an option yesterday. I have never heard of a real case of proven T21 placental mosaicism. I don't want to be made to wait longer to exclude a rare theoretical possibility. My hunch is that my baby has T21 mosaicism with DS features (we already learned it does not yet have an ossified nose at 12 + 2) but NT fold was 1.9 baby is otherwise structurally normal.
Were soft markers spotted on your scans in either of your cases? I guess they may not have yet known about the nose thing back then.
We receive PCR results tomorrow and I expect these to be positive for T21. Then I guess we will have to think again.
I have registered with BPAS who told me to call as soon as wish to confirm plan for termination. They said I could have a surgical procedure in Richmond or StreathAm which are both accessible for us.
Thanks again for your massively helpful post.. FlowersHalo

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ShangriLaLaLa · 16/03/2016 07:12

You can tell that it's a while since I last told our story - I usually add that our circumstances are incredibly rare. Yes, we did have two T21 affected pregnancies, one in 2004 and one in 2005. I was quite isolated as these boards didn't exist at that stage but a couple of years on, some of us got talking on the pregnancy board and this safe space was set up. I think there were three of us at the time who had experience of recurrent T21. But please don't let this scare you. It is incredibly rare, as I say.

By that time, DD was three years old and it was a shock after a textbook pregnancy with her. In all, I went on to have 7 failed pregnancies (1 ectopic, 1 late MC, 3 MMC and the 2 tfmr) and had practically given up, when I had DS in 2010. It's a horrible tale and quite extreme but we got there and those days seem far off now, it's why I'm rarely here anymore. It's like it happened to someone else. The last pregnancy was sheer hell, especially as I really was of advanced maternal age by then but somehow we got through it. These boards were invaluable. (A lot of the story can be found under my old, shorter posting name of Shangrila.)

DH and I were offered genetic counselling, which came back clear. We heard 'just one of those things' a lot but we substituted that in our minds for 'they just don't know'. In answer to your other question, both CVS were performed after high nuchal scans of 4 and 4.5 and dreadful bloods. No harmony back then, the nuchal scan was the latest thing. They did note the omission of nose bone, though.

I always found the not knowing and the 'what if's' to be worse than any reality that I was presented with. Hope you get some news today and I'll be checking in later. Wishing you strength.

lucy101101 · 16/03/2016 07:18

Hi there, I don't know if anyone has mentioned the charity ARC but they were incredibly helpful to me when we had some very sad results.

www.arc-uk.org

Blackcherrysundae · 16/03/2016 07:51

Shangri thank you for sharing your story. Your support is greatly appreciated. I am so pleased you have moved forward and are blessed with 2 healthy children.
We are not planning to try for more children after this whatever the outcome.
I will update you all following pcr results.
Thanks Lucy re Arc contact. I'm going to call them today

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Blackcherrysundae · 17/03/2016 15:57

Update:
CVS initial report is +ve for trisomy 21.
We are going to proceed with a surgical termination
The BPAS are going to call me back with a plan.
We are seeing our consultant tomorrow morning I suppose to close things off.

Thank you all for sharing your stories of support ..
Wishing you all the very best for your pregnancies - those who are pregnant!
Sending love xx

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sparechange · 17/03/2016 16:08

Flowers OP
I've been following your thread, and have been in a similar situation.
My heart goes out to you, and hope you can get a timetable that suits you from BPAS.

Look after yourself and please let these wonderful boards support you through the next few days, weeks and months if you need it

Blackcherrysundae · 17/03/2016 16:34

Thank you sparechange,
I hope we survive this emotionally!
Hope you have started to feel better after your experience?

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KittyandTeal · 17/03/2016 17:01

Ok cherries. I'm so sorry, I guess it was the news you were expecting. I'm glad you got your results so quickly and can have the procedure that is right for you.

You will get through it emotionally, so days it'll feel like you can't but I promise you will. Feel free to pm me, we will be here for you if you need us 💐

ShangriLaLaLa · 17/03/2016 17:44

Hello blackcherry I'm so sorry that you've had this news but hope that you can now make progress with arrangements etc. BPAS are so experienced and I'm sure you'll be in good hands. If there's anything information that we can help you with, just ask away. Take good care.

Diggum · 17/03/2016 21:51

I'm sorry blackcherry Flowers.

FWIW I found the surgical termination under GA very straightforward, and BPAS were so so lovely to deal with. Best of luck with it.

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