Baby diagnosed with 22q11.2 deletion syndrome (digeorge)

siren

New Member
Hi,

Unfortunately there is not much info on these in Singapore unlike down syndrome which many people had heard of.
i am not able to find any support group as well.

Currently at 21 weeks and after making a very difficult and painful decision, we have decided to terminate our baby.

The common symptoms found in other people affected by this deletion includes

heart defect
frequent infection because of weak immune system due to small thymus
ear infection
cleft palate or lip
short stature
small eyes, rectangular nose, small ear
behavior problem like autism and adhd
delay development like learning. walking and talking

and many more....

We tried to stay positive and pray that the baby has none of these because there are many people who didn't even realise they had this deletion because they have no symptoms. Many grew up and hold normal job and went on to have family. We hope our baby could be the lucky one born without any symptoms however the doctor was unable to predict as well because the symptoms are very variable and everybody has a different combination of symptoms.


Therefore we decided not to go ahead with this pregnancy as we feel the risk is too great.

There is a ch 8 documentary on mewatch. You can see that the child with digeorge has quite a severe disabilities.

 
Hi,

Unfortunately there is not much info on these in Singapore unlike down syndrome which many people had heard of.
i am not able to find any support group as well.

Currently at 21 weeks and after making a very difficult and painful decision, we have decided to terminate our baby.

The common symptoms found in other people affected by this deletion includes

heart defect
frequent infection because of weak immune system due to small thymus
ear infection
cleft palate or lip
short stature
small eyes, rectangular nose, small ear
behavior problem like autism and adhd
delay development like learning. walking and talking

and many more....

We tried to stay positive and pray that the baby has none of these because there are many people who didn't even realise they had this deletion because they have no symptoms. Many grew up and hold normal job and went on to have family. We hope our baby could be the lucky one born without any symptoms however the doctor was unable to predict as well because the symptoms are very variable and everybody has a different combination of symptoms.


Therefore we decided not to go ahead with this pregnancy as we feel the risk is too great.

There is a ch 8 documentary on mewatch. You can see that the child with digeorge has quite a severe disabilities.

thanks for sharing and sorry to hear that. Hope you recover well and stay strong. Is a painful experience and at every stage of pregnancy. so much worries... esp during covid period .. vaccination or not...booster or not etc... Worry about NIPT test result.. week 20 scan...etc etc.. You did not do a NIPT test at week 10 to check on all the possible defects or the NIPT missed it ?
 

Cherry90

New Member
Thanks for sharing your personal experience and so sorry about your loss. I think the tv programme u shared looks interesting! Will bookmark and watch. Hope you are feeling better now
 

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