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Antenatal tests

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Original poster

Diagnosis of Digeorges or vcf - just don’t know what to do

13 replies

stanley10 · 21/02/2020 12:11

Despite a 4% chance of digeorges we have had a positive result today.

I am almost 26 weeks as they screwed up the scans but apparently we do still have a choice.

Has anyone been through this with any advice? I feel like I’m living a nightmare.

OP posts:
Peacefullythoughtful · 21/02/2020 17:20

Dear Stanley
I am so sorry to hear you are going through this difficult time. My daughter has a right aortic arch and we too were advised of the link with diGeorges. My consultant in fetal medicine said it is on a spectrum with some people literally not knowing they have it to others who are more affected. We actually chose to decline the amino and have subsequently declined the testing post natally. We wanted to get to know her as an individual rather than a diagnosis. I therefore don’t know if she has diGeorges or not- she is however an utter joy. I would try arc to talk and get good information and also hope sussexmidwife is along soon as she gives great advice. My thoughts and prayers are with you

Sussexmidwife · 22/02/2020 17:44

@stanley10 what a very complex dilemma you face. Do you have a specialist midwife or other link person to talk this through with or are you jest being left to make a decision? Happy to discuss by PM if that might help xx

AshGirl · 22/02/2020 18:18

My DS has DiGeorge syndrome. He is nearly 3 and totally awesome Smile

He has had lots of struggles. He had a heart defect that was not picked up until after birth and was often poorly even after he had his corrective surgery. He has a speech delay and is delayed in other areas as well. He has a 1-1 at pre-school and sees a speech and language therapist every week.

You will have to make a decision that is right for you and your family. As you've been told, DiGeorge is not one diagnosis, and can affect people in a very wide variety of different ways. There is no way to tell how severely someone will be affected but as you have the diagnosis you would be offered all the relevant tests very soon after birth to make sure that you and your DC get the right support.

You can PM me if you would like to talk. All the best to you Thanks

Original poster
stanley10 · 22/02/2020 18:33

We have a geneticist appointment on Tuesday, I’ve talked to max appeal and to arc who were both really helpful. We aren’t sure whether we have scope for a decision at 25 weeks. And I’m not sure if my partner and I will reach the same decision. It’s so hard, it’s the hardest thing I’ve ever been through. I keep thinking I will wake up from it all but I don’t

OP posts:
Original poster
stanley10 · 22/02/2020 18:37

Thank you @ashgirl. I am so worried that I wouldn’t be able to cope with a disabled child. Do you adjust? How long did it take you to? It just seems so overwhelming.

I’m also so worried about money and supporting our child and how he will transition to adult hood. From what I see nhs services beyond childhood are patchy at best, and what happens when you leave your child when you die? I know this all seems such a long way off but it’s what’s swirling around my head

OP posts:
AshGirl · 22/02/2020 19:22

Sorry for the slow reply - been dealing with bedtime!

It is OK to worry about all those things. They are worrying, and it is scary becoming a parent whether you know your child will struggle or not.

It is obviously a very personal decision whether to continue with a pregnancy. Do you know if your baby has any heart or other issues from the scans?

We didn't know there were any problems until after DS was born and nothing was picked up on the antenatal scans. I think that most parents of children with additional needs go through a process where you have to come to terms with the fact that your child's life and your life will be different to what you imagined, and you will feel sad and angry at the unfairness of it all.

We still worry a lot about what the future might look like for DS. Lots of people with DiGeorge live independently, hold down jobs and have their own families, but some would also struggle with those things - the hardest bit for me is that you just don't know what the future might hold.

For the practical stuff, both DH and I work almost full-time in demanding but quite flexible jobs. We don't claim any benefits but they are available depending on the level of the child's needs.

Hope this helps. It's a very difficult time and you must feel like you are having to rush to make a decision when really what you need is a few weeks to think things through

cudbywestrangers · 22/02/2020 21:05

My brother has a c22q11 syndrome. From what I read, how people are affected is really variable. He has not had any heart problems but did have an operation on his palate as a child, had injections for growth and has learning difficulties so went to a special school. He is now in his 30s and does have a full time job stacking supermarket shelves and lives on his own with support for managing finances etc. I think my mum does worry about his long term future as he does need some help with complex areas of life.

I don't know if that is helpful at all for you but I hope you can come to a decision that you are at peace with

Original poster
stanley10 · 23/02/2020 18:58

Thank you both. It’s really useful to have the perspective of people who are actually living it.

@AshGirl he has a double aortic arch but nothing else. We are meeting with the geneticist on Tuesday for counselling and have set up some time with max appeal tomorrow for a chat.

I also worry about the association with schizophrenia and bipolar etc as have close friends and relatives with these conditions and know how miserable they can be.

I worry that as a person that suffers with a lot of anxiety from ‘normal’ life I just won’t cope with the uncertainty of all this too. And I worry that my partner and I won’t be on exactly the same page when we have to make the decision - I guess this must be so common but I have no idea how people navigate that situation

Thank you again for your comments they are really helpful x

OP posts:
AshGirl · 23/02/2020 19:25

Wishing you all the best OP and, as the previous poster said, hope you can find some peace with whatever decision you make.

All I'd add is that I think we all surprise ourselves with the reserves of strength that we find when we become parents. I firmly believe that no one is truly 'ready' to be a parent and we all have to find our own path.

Good luck Thanks

Original poster
stanley10 · 23/02/2020 19:35

Thank you xx

OP posts:
cudbywestrangers · 23/02/2020 21:47

Sending you strength too. I hope the appointments are useful for you both

Pkd · 06/11/2022 09:25

@stanley10 hi Stanley I’m in the exact situation as you are, I’m living in a nightmare could you please let me know what decision you took on this?

Peacefullythoughtful · 06/11/2022 12:34

Hi
Just wanted to say my thoughts are with you. My daughter has a right aortic arch and Atrial septal defect. As far as I know she doesn’t have diGeorge. We made the decision not to have any further tests and to see what happens. She is a completely happy healthy 4 year old meeting all her milestones and bilingual. She has no problem from her RAA but may need surgery next year on the hole in her heart. I remember the stress as if it were yesterday abd my thoughts are with you

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