At 13 weeks I had my first ultrasound and the doctor said the nuchal translucency was a little high so I had a Chorionic Villus Sampling done and they did a chromosomal analysis to look for Downs. They said the results came back all normal. I was thrilled. The doctor called me back a week later and said they found something wrong with the blood flow in the heart and they wanted to test my baby for Digeorge Syndrome. I am scared to death. The doctor said people abort over this syndrome because most of the time the child won't live past 2! Anybody going through this? Or anybody with a Digeorge Syndrome child give me any advice?
I'm a 26 year old women with a 2 year old daughter who has digeorge syndrome. My advice is find the best dam doctor you know who will find answers if they don't know them. I have the most amazing peditriction. I also need to tell you to get tested have a fish test runned for yourself. As there is a 50/50 chance of passing it down to your child. Make sure you check for calcium levels when your daughter is born and make sure you watch for tremmers. as fibro seizures are are a sign of something called hypocalciuma. If you need to talk message me on my page here and I will reply. I also have a friend who has digeorge and she is 27 years old. there are a few others who are older. some people don't even know they have digeorge until they have a child. the most inportant thing you can do is you yourself get tested. I don't give a rats ass if the drs say it's a random deletion. that 50 50 chance is pretty darn high if you ask me. My father, half sister, half brothers all have this deletion. So I am one of a few who will insist you get your family tested.
then all you can do is treat the symptoms as they come along as there is no cure. but there is hope when you have the knowledge.
My daughter has DiGeorge syndrome and I would have never aborted her!!! She is simply amazing. Im not saying it's going to be easy but I am saying it will all be worth it! You could have Digeorge and never even know it...... Some parents have kid that has DiGeorge and the the parent is tested and it turns out they have it too. What I'm saying is even if you child has Digeorge it can be normal. If you have any questions please feel free to ask!
I'm not a violent person, but frankly I'd like to smack your doctor. LOL! What a horrible thing to tell someone! Find a pediatric geneticist, they'll tell you that there is a HUGE spectrum for DiGeorge kids/adults. Abort over this syndrome?? That makes me furious! My son is 5, we found out that he had DiGeorge when he was about a month old. You're already ahead of the game, if the test comes back positive, because they'll know better what to look for as far as symptoms go (if there even are any) when the child is born. Children are born EVERY day with this syndrome. This doctor clearly isn't very familiar with it, find one who is. They're out there. Yes, there are children born with it who won't survive past infancy, I'm not gonna lie, but there are also many who are born almost completely normal. If you have any questions I may be able to help you with let me know. I'm not a doctor, but I'd like to smack one! LOL God Bless! (my email is mLhecky@frontiernet.net - I don't get on my cafemom account very often.)
I'm going to be honest, some kids DO die from DiGeorge Syndrome. But I think most of the other moms would agree with me that that is not the norm. Most of our kids have had struggles and medical problems, but they are, for the most part, just kids! I agree 100% with the mom that said she wouldn't have even considered abortion. My son is 8 years old and just started 3rd grade. He is in a mainstream classroom at grade level. He is funny and curious and VERY caring. He has had 16 surgical procedures and gets ear infections, coughs, colds and croupe a lot. But NOTHING that I would even consider abortion over. And even if he had died at 2 yo, I would have rather enjoyed that time with him than aborted him and never had the chance to know him, let alone spend my life wondering "what if he could have lived a fairly normal life????"
Thank you all for your post. I have made up my mind no matter what the results are. I will not abort my babygirl. I'm 16 weeks and I can already feel her moving around in there. My docs called me and told me i have to wait until late next week for the results. This has been the worst 2 weeks of my life. I just want my babygirl to be healthy and not suffer. But if she does have Digeorge Syndrome I will love her and take care of her. I'm in nursing school so I already had medical experience, so that will help. Please message me with any other stories or advice. I greatly appreciate it!
Yeah Kaetlin!! That makes me so happy! :) You already have a support system here too if it comes back positive. I don't think I discovered this group until my son was like 2 or 3 and already past most of his troubles. The biggest thing he faces right now is bad advice from doctors who aren't familiar with him and don't trust that his parents know what they are talking about. LOL That's great that you have nursing training. In the first couple of years of Aiden's life I felt like I had had it too! :) You'll do awesome!
Quoting KaetlinC:
Thank you all for your post. I have made up my mind no matter what the results are. I will not abort my babygirl. I'm 16 weeks and I can already feel her moving around in there. My docs called me and told me i have to wait until late next week for the results. This has been the worst 2 weeks of my life. I just want my babygirl to be healthy and not suffer. But if she does have Digeorge Syndrome I will love her and take care of her. I'm in nursing school so I already had medical experience, so that will help. Please message me with any other stories or advice. I greatly appreciate it!
I am a nurse. I had finished nursing school and worked a couple years before Drew was born. We didn't even know he had the 22q11 deletion until he was 6 years old!!! We were going through all these surgeries and finding all these physical defects, struggling really hard with speech and we didn't even know why. So, at least you will know why and can try to anticipate what will be coming. :)
Ah, one of those answers with more questions attached to it. I hate that, especially after waiting so long for the results. I'll pray for wisdom in these doctors of yours to be able to find out what the problem is and be able to fix her little heart. Hopefully these tests they do now won't take weeks to get the results. I hate those kind of tests! Keep us updated if you think about it, I'm all curious now too. Maybe it's even something that will correct itself as she grows. :)
22Q11.2 distal deletion..does anyone know anything about this???
- KaetlinC
on Aug. 24, 2009 at 4:43 PM