New here, 22 weeks pregnant

telfakaye · May 2010

Hello, I thought I would introduce mysef after lurking a bit on this page. At my 20 week us they found I have a 2 vessel cord and baby has aortic stenosis (narrowing of heart valve) and VSD (hole in the heart). They suggested we do an amnio to find out if this was part of a syndrome, 10-30% chance it was. Turns out it is Deletion 22Q11.2 syndrome (AKA DiGeorge syndrome). I am scared for my baby and scared for myself and husband, I never thought about chances of not having a "normal" baby and it saddens me to see my nieces and nephew playing and doing things that my baby may never be able to do. After we got the heart diagnosis (still need to see a cardiac pediatrician for a fetal echo) I cried for a couple of days but then knew even though it was not ideal we could handle it. We just found out about the other diagnosis and I am having a hard time dealing with this as well. We know we want our baby to be here, we have planned for one for a while now, I think it is just hard to shift "ideals". Any advice?

Crazycrustacean · May 2010

I have just gone & am going through something very similar. At 16 weeks my afp was low indicating a higher chance for downs. Our big u/s revealed a vsd. A fetal echo confirmed tetralogy of fallot. Further amnio at 28 weeks confirmed downs.

Here is my blog. From the beginning to now it illustrates how I have been able to come to terms with the news & diagnoses we've been given. I hope it helps you in any way to shift your ideals & help you feel less alone.

itsgooditsbaditsugly.blogspot.com/

And please feel free to email me at thecrazycrustacean@gmail.com.

mskolman · May 2010

I could have written this entry in Nov. of 2008 after our 20 week ultrasound...and probably did. Our son had a different heart defect (very rare and serious), but then after the amnio we found out he had 22q deletion syndrome. Double wammy!

It was hard, but just know that 22q deletion syndrome is definitely secondary to the heart defect. There is a VERY wide range of issues with the 22q deletion syndrome, so don't read everything on the internet. We are friends with a kiddo that is 4 months older than our son with 22q and he is hitting his milestones just like any other kid, he is just a little on the smaller side.

Our son was dealt a bad hand with his particular heart defect that caused major airway issues, so we were in the hospital for 99 days. This was just due to the breathing issues, his heart was and still is functioning wonderfully. Please make sure to research a hospital that is well-known pediatric heart surgery and for your child's specific heart defect.

It was and still is a tough journey, but he is such a miracle and has touched so many lives in his short little life. It is all totally worth it! Please PM me if you want to talk, ask questions, vent etc.

jko123 · May 2010

We found out about Oliver's heart defect at 22 weeks...much different defect than your son (Hypoplastic Left Heart Syndrome), but I had the same feelings. The day after we found out I refused to get out of bed...i did want to eat, but had to, and cried more than I ever thought possible. I was devastated, and hated every pregnant woman that was carrying a healthy child! I wouldn't go around anyone for the longest time. After he was born and had his first surgery my plans had changed for a child that may not live a 'normal' life, but once we brought him home, we seen how normal he is! He's the typical almost 2 year old. He also has a chromosome issue, not 22Q, but we refused the amnio during pregnancy. He's hit every milestone (except for rolling over - and he had a G-tube so his doctors think it was uncomfortable for him to be on his belly) at the right time and walked early. Don't get down about your little one not having a 'normal' life just yet...and try not to take anything you see on a google search to heart! They tend to dwell on the negatives and rarely focus on the positives!! Hang in there, your feelings are perfectly normal!

mommyof4boys · May 2010

My son has a genetic syndrome, 16p11.2 duplication syndrome. I have also found support on Unique's website and through their facebook page. We recently had our son's heart looked at by a doctor because he is at risk for a condition due to his syndrome but his heart checked out ok. He is, however, significantly delayed and is on the autism spectrum. I can relate to you with thinking that all your hopes and dreams of having a "typical" child are crushed in a sense. Between DH and my family, there are 8 little ones all around the same age as Christopher. He's the only boy out of them, my sister and brother each have a daughter and we have cousins who have children around the same age. I have to tell you that it is getting a bit better for me. Chris has always been delayed; we didn't find out his correct diagnosis until February. We don't know any different as does the rest of our family. He has always been Chris and we have chosen to embrace him for him.

McBonBon · May 2010

((hugs)) I can totally relate to your situation. I found out at 22 weeks pregnant (2 years ago) that my son had significant congenital heart defects--something called Shone's complex--similar to hypoplastic left heart syndrome. He's had two open heart surgeries so far. We were also told at the time that his was probably related to a syndrome. We refused the amnio at the time, and did the diagnostic testing after he was born. He does have a syndrome, called Noonan Syndrome. It's such a good thing that you know about your son's heart now so you can be prepared for his birth in case the doctors need to intervene immediately. My son is developmentally delayed, but still reaching milestones--just more slowly than average. He actually just started walking this week, at 20 months old. He is in therapy 3 days a week--occupational, physical, and speech. Your son will probably need therapy, but because you know about his needs at birth, you can get it started right away, and that will make all the difference. It is hard at first getting used to the idea that your baby isn't "perfect," but that doesn't mean that you will love him any less. And his accomplishments will come to mean more to you because of how hard he will have to work to get there.

JOEBunny · May 2010

Just want to say that the cardiac surgeons are amazing. My nephew is 2.5 years old and was born with Tetrollogy of Fallot, which is often accompanied by DiGeorge. My nephew did not turn out to have DiGeorges. As the previous poster said, the heart defect is the most serious of the two initially. My SIL was able to get some names of people in her community from the neonatal heart specialist of other families with children with my nephews prognosis. It was a great help to her to meet and talk to other children (and their parents) with TOFs (a couple also had DIGeorge) before my nephew was born. Being able to visualize the children, not just the syndrome was a great comfort. Also, seeing them running and playing, ect. let her know that it would be ok.

We are very fortunate that my nephew has done very well and not had any complications. He had surgery at birth (within 24 hours) and he was repaired at 7 months and has not needed any further surgery.

Good luck as you go through this. You both can do it. Don't be afraid to rely on others, so many people have helped us with everything from just listening to waiting by the car while my SIL went into the school to get the older children, since my little nephew could not be exposed to the school germs.

telfakaye · May 2010

Thank you all for the advice and support. I really appreciate it and it helps knowing we are not alone in this.Our next step is to see the pediatric cardiologist (appt tomorrow) to see what they think needs to be done after baby is born. We thought we did not want to know the gender of the baby but after all of this bad news I think we may also find that out tomorrow to have some good news. Thank you!

BlueEyedBaby · June 2010

My son doesn't have a heart condition, but I did experience similar feelings starting when he was 5 days old. His newborn screen came back elevated for cystic fibrosis while we were in the NICU for jaundice treatment. He had it repeated, and the second one also was elevated. He was diagnosed with CF on 12/30/2009 and I had a really hard time for a while. I made the mistake of googling CF...bad choice! If you want info, ask your doctors where to get unbiased information about the condition, otherwise you will freak yourself out! My son is doing well, dispite having weight gain issues, and I hope your baby does well too! I'm glad that there are places like this where we can find support!

abigailhester · June 2010

Hi My advice to you in love your baby no matter what. Just remember that your baby would not be sent to you if you couldnt handle it. I was faced with a similar situation the day my lo was born. they came in a told me he had a genetic disorder and most of the time these babies dont live past 6 months.

let me start by saying my son is now 8 months old and doing great. In fact i found out today that he has no genetic disorder at all. we have seen doctor after doctor and we went from bad to better and better.

he also has a whole in his heart an ASD actually, it 3 months ago had already began closing (1 mm already)

im not sure where im going with this other than everything will be fine.

take a look at my blog...
https://brodyleeoswald.blogspot.com

you may find it helpful but you will have to go back a ways.

good luck momma!

walkerb4 · June 2010

We found out at 22 weeks that our son has Hypoplastic Right Heart Syndorme (normal chromosomes). I can tell you that I cried there on the u/s table, burst into tears when the doctor was explaining everything, and I've cried many times in the 8 weeks since. I agree with you, it is very difficult to shift ideals. I've learned by watching others dealing with something like this that once your baby is born, he/she is will be your baby. And you will deal with it.

Also, don't underestimate your kiddo. They are extraordinarily resilient and, even with challenges, he/she may surprise you with what they can do. I've heard so many stories about kids defying expectation over the past few weeks, I can't even begin to relay them to you. And the fact that so many kids can do so much with what they're given is uplifting and inspiring.

I would suggest to you, when you're ready, to go and find a support group (online or otherwise) of families with kids with DiGeorge syndrome. And I think that the stories of inspiration with help and prepare you.

Good luck on your journey. I hope you find peace.

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