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Original poster

Down’s syndrome diagnosis - looking for hand hold

70 replies

IVFWarrior40 · 01/02/2022 09:51

Hello, I have just found out yesterday that my baby has been diagnosed with Down’s syndrome. I am nearly 14 weeks. I’m so confused as the scan at 12 weeks looked fine. The nuchal fold was 2.9mm but the sonographer didn’t seem concerned at all.
Then I had my bloods done. My Papp-a was 0.46 mom and hcg 3.57 mom. As I’m 41 and an ICSI pregnancy this brought our risk down to 1 in 5.
I didn’t want to risk an invasive test so had the Harmony blood test and got the results yesterday - 99/100 chance baby has T21 which is pretty definitive.
My world came crashing down. I assumed that because my scan and bloods were all within normal range that everything would be ok. How wrong I was.
I’m booked in for a cvs tomorrow to confirm the diagnosis.
I’m going through every emotion right now and not sure what I am asking. I guess Im just looking for people who may have been through something similar. I feel very scared and confused and not sure what to do.
Please don’t judge but I’m considering a termination as I’m not sure it’s a path we as a family can go down. I’m just so scared of what this entails.

OP posts:
Easternfells · 01/02/2022 20:14

I’m so sorry you’ve had this huge, unfair shock. I haven’t been in this situation, but one of my sisters has Downs and I want to say that it isn’t necessarily a burden for siblings. My sister has a social worker and lives in a lovely supported living house with 5 others who also have learning disabilities. She’s an extremely enthusiastic Aunt and has a good life. We chat on FaceTime and meet up mostly when at my parents’ house, but I don’t worry about her. My parents are elderly and although when my mum dies the rest of us will oversee her financial affairs and ensure she’s well cared for, it’s not a big or onerous task in this case. I do remember being irritated when people stared at her when we were children, but there was no negative impact on my childhood to have a Downs sister. I really have no idea if I would terminate or not in your situation, but I think it’s important that you focus on your own feelings rather than overthinking the impact on your daughter. So sorry you are having such a difficult time and it must be an overwhelming decision to make.

AmberRoseGold · 01/02/2022 20:15

Five years ago (almost to the day) I terminated a T21 pregnancy. Personal experience of quality of life and health meant I would not choose to have a child with DS. Grateful always that I had the option to terminate. It was still very distressing for quite a few months but I never regretted the choice and am very thankful I had it.
It’s almost the most personal choice you can possibly make. Good luck whatever you decide. No easy option and no easy way to make the choice.

Swifey40 · 01/02/2022 20:32

So sorry for what you are going through, sending strength xx
My brother and his partner had a ds boy eight years ago, they refused all tests and scans (it's fairly common in Sweden) and so had no idea until he was born. It was an awful shock. The mother had two daughters already, who were about 10 and 12, and it has massively impacted on them. So much so that they moved overseas to live with their dad, because the responsibility was too much. The ds boy is now eight, and he cannot speak, he's still in nappies, and he cannot be left alone for a second. It's a total nightmare I'm afraid, he has let himself out of the house at night, tried to start cars, he hits people and throws anything he can get his hands on. It is totally exhausting and his sisters have refused to be put down as next of kin because they want their own lives. My brother and his partner have split up too.
I'm absolutely not saying that it's like this for everyone, but you usually only hear the good and happy stories, and it's not always like that. Good luck and take care of yourselves. X

Bekind2yourself · 02/02/2022 09:08

@IVFWarrior40

Thinking of you today Flowers

Original poster
IVFWarrior40 · 02/02/2022 09:18

Thank you all so much for taking the time to respond. I have read through each and every one of your messages and can’t thank you enough for the warmth and kindness you have shown me, in addition to the advice and support. I’m so glad I found this forum.

We are just nervously awaiting our appointment for the CVS procedure. I’m hoping it’s not too painful. To be honest I’m feeling so numb right now I can’t imagine any physical pain could match the emotional pain I am feeling right now.
I will update when I get back from the procedure.

OP posts:
Original poster
IVFWarrior40 · 02/02/2022 12:03

Just got back home from the CVS procedure. It wasn’t too bad. Just a bit uncomfortable but was over quite quickly.
The consultant was lovely with an excellent bedside manner. He explained everything so well and I felt very well looked after.
It was a very emotional experience, especially as the consultant has to scan the baby throughout the procedure. I didn’t want to look so spent the entire time looking at my husband and chatting about our little girl.

We should get the results back either late tomorrow or Friday but the consultant was very sure the result would be as the Harmony test reported. He said there were no markers to indicate T21 on the scan but scans at this stage can only pick up a very small amount of cases. He didn’t want to give us false hope and said that although he had seen two cases this year of the Harmony test getting it wrong with t18 he had not seen any false positives with t21.

We have accepted this.

For now, I’m just going to try and relax and concentrate on my little girl. She is an absolute joy to be around and is an excellent distraction. I’m just so happy and grateful that our first IVF cycle was successful. She truly is our little medical miracle and we love her so much. xx

OP posts:
Bekind2yourself · 02/02/2022 12:12

I’m so glad you had a good consultant and that it wasn’t too uncomfortable for you. Enjoy your little girl. Such a wonderful distraction for you. 💕

Cheekypeach · 02/02/2022 12:17

So glad you were treated with care & dignity OP. Your daughter sounds wonderful and will help to get you through these dark days Flowers

Catty99 · 02/02/2022 14:59

There is a lady on instagram called Kelle Hampton whose middle child has Down Syndrome (discovered at birth). Her daughter has just turned 11/12 and Kelle has talked about how awful she thought things would be vs how great they’ve become and how life just feels “normal” for them.

I don’t know how I would feel in your shoes. The decision must be agonizing.

Best wishes to you op Daffodil

LazyMareofEastown · 02/02/2022 15:15

Oh IVF - sending you all the love and strength 💜. I can only echo what other very wise and kind posters have said - you have to make the best decision for you and your family.

I'm glad your appointment today went as well as it could.

Catty Not to derail but can I just say that I don't think it's particularly helpful to direct OP to someone like Kelle Hampton. Not to diminish what Kelle and her family went through with their daughters diagnosis and illness but she is an obviously super wealthy blogger who presents a highly curated and edited version of her life to the world, a life that bears zero resemblance to the ones most of us most experience.

It's the same with Sally Phillips. She made an anti-choice doc for the BBC a few years ago in which she spoke about how her son has brought nothing but joy into her family's lives. I think this is probably mostly because a) he seems to be at the mild end of the DS spectrum and b) they are obviously very wealthy and can afford help that the rest of us mere mortals cannot.

Mjfdrjjbf · 02/02/2022 16:12

@LazyMareofEastown I understand the point you’re trying to make but I think there’s also a tendency to dismiss or explain away the many people who talk about having positive experiences of raising a child with DS because “the parents are wealthy” or often because “it must be mild”. The fact is that no one can predict what any child’s future will be like, and that is what makes the OP’s position such a difficult one. I believe Sally Philips’ son’s level of disability is actually pretty average (I don’t know him but I think that’s how she presents it and seems accurate from the little I know of him). She’s quite open about the challenges as well as the joys.

For most people it’s scary and unknown. Whatever choice the OP makes is totally valid without needing to disregard the many lived experiences of people with DS. The fact many of us have had a good experience doesn’t mean the OP will. The fact that a few don’t doesn’t mean the OP won’t. The fact many people have challenges with typical children doesn’t mean that extends to all other kids.

OP that doesn’t help your decision making except to say that please don’t base it on how any other family has found it or thinks they would find it - do what you think is right for you.

Mjfdrjjbf · 02/02/2022 16:15

PS I’m glad the procedure was ok and enjoy the snuggles with your girl. I remember feeling exactly the same and just wanted to wrap my oldest child up and never let her go. You sound like you’re a wonderful family x

Straysocks · 02/02/2022 16:23

@LazyMareofEastown You honestly don't have to be wealthy to have a great life with or without DS

Catty99 · 02/02/2022 16:23

@LazyMareofEastown phew, so glad you posted to put me into place. You’re so right that your opinion is more valid than my suggestion.

SilverontheTree · 02/02/2022 16:28

I really don’t think it is helpful to be posting stories about having a t21 child, OP said in her first post that she was looking at termination. It’s a really hard time and personally I wouldn’t have wanted to read about it when facing tfmr.
The fact is that 90% plus of t21 diagnoses end in tfmr for lots of very good reasons.
Sending you more Flowers OP

elliejjtiny · 02/02/2022 16:37

I'm glad the procedure went ok and I'm sorry you are having to make this difficult decision. My 8 year-old has a rare genetic condition that is similar to downs syndrome. He is doing well at mainstream school with an ehcp and he will probably have the cognitive ability of a 10 or 11 year old when he is an adult. He has brought us so much joy.

IsabelHerna · 03/02/2022 08:20

Sending you love, hugs, and strength Flowers

WhatsWithAllTheCarrots · 03/02/2022 08:26

Hello OP, so sorry you are going through this. If you are considering continuing with the pregnancy then it might be worth checking out Kelle Hampton's story - kellehampton.com/special-needs/ - they had a Down's diagnosis the day their baby was born and it came out of nowhere. She blogs extensively and movingly and has also written a book about the experience called Bloom xxx

WhatsWithAllTheCarrots · 03/02/2022 08:33

That's not to try to sway you, by the way. I just thought it might be useful if continuing the pregnancy was a consideration. Your decision has to be what you think is best for your family and I have literally no idea what I would do in your position. Sending you love and strength. X

Moonlightdust · 03/02/2022 09:06

Hugs for you as it’s a difficult thing to face. Not to sway you but our niece was born with DS. My SIL didn’t know the entire pregnancy and it was only discovered at birth. It was a huge shock and took a little while to sink in, but that child has brought the family so much joy and happiness. She has a great bond with her older sister too. Sometimes things happen that don’t fit in our box of ‘normal’ but actually end up enriching lives for the better.

Original poster
IVFWarrior40 · 03/02/2022 17:00

Hello everyone, just had a call with the results from the CVS. It has confirmed the baby has Down’s syndrome.
It’s the result we were expecting but it was still hard to hear. A small part of me was hoping to be that 1 in a million person who gets a false positive.
We have an appointment with the consultant tomorrow to discuss next options.

Thank you to everyone who has taken the time to post. I have been touched by the warmth and compassion I have received here. It has been a tremendous help. xx

OP posts:
gogohm · 03/02/2022 17:05

It is your choice, there's lots more information available these days.

We have a lovely young lad with downs at church, lives with a friend in sheltered accommodation, has a few care hours a week but mostly looks after himself however it isn't always as good an outcome, nobody will judge you whatever you decide

Opal8 · 03/02/2022 17:08

@IVFWarrior40

Hello everyone, just had a call with the results from the CVS. It has confirmed the baby has Down’s syndrome. It’s the result we were expecting but it was still hard to hear. A small part of me was hoping to be that 1 in a million person who gets a false positive. We have an appointment with the consultant tomorrow to discuss next options.

Thank you to everyone who has taken the time to post. I have been touched by the warmth and compassion I have received here. It has been a tremendous help. xx

Very best wishes to you xx
OystercatchersPaddling · 03/02/2022 17:25

Best wishes OP. You will make the decision that is right for you and your family. Sending love to you xxx

PasswordEarth · 03/02/2022 19:05

Very sorry that was the result, I am glad they can turn it around so quick for you and the appointment tomorrow x