I understand exactly what you and your wife are going through. I've had three miscarriages myself, and one before becoming pregnant with my now four year old daughter Charlotte. At my 20 week anatomy scan, we were told that Charlotte had a heart defect, a kidney defect, and possibly a rare genetic disorder like DiGeorge Syndrome (otherwise known as 22q Deletion Syndrome). It was the worst time of my life by far. What we found out over the second half of the pregnancy was that Charlotte had a double outlet in the right ventricle, a large VSD, and pulmonary stenosis. We were told that she would need open heart surgery in the first year of her life, but that she would be a healthy child following the surgery. Our cardiologist never gave us any reason to worry and was a rock for us. He was wonderful. We also found out that Charlotte had a left multicystic dysplastic kidney (a bad kidney), and that nothing could be done about that. We were told that DiGeorge was suspected because Charlotte had two organ systems affected, and that is typically what is seen with DiGeorge. We were pressured by my high risk doctor to have an amnio done, but didn't. I had the basic blood test done to rule out Down Syndrome and the Trisomies, and Charlotte was negative for all of those. I also changed doctors, because the high risk doctor that I was seeing was causing me more stress, and always involved students in what I considered very sensitive discussions.
So, here's what happened. I stayed away from the internet entirely. I stopped Googling all of the possible worst case scenarios and tried to enjoy my first pregnancy. I had an uneventful pregnancy otherwise, and I put all of my faith in the words of the pediatric cardiologist: Charlotte would be fine after her surgery, and would lead a full, happy, and healthy life. I also believed fully that I was gifted with a child with special needs for a reason, and that is humbling for me. Charlotte was entrusted with my husband and I for a reason, and your daughter has been given to you and your wife for a reason.
I went into labor with Charlotte on my own two weeks ahead of her due date (and late on a Friday night- the hospital staff was scrambling!). I had an uneventful and easy labor with her, and she did very well. At birth her heart function was good, and so she only had to stay in the NICU for 24 hours of observation. Instead of one bad kidney and one good kidney, the doctors found one completely healthy right kidney, and an absent left kidney. She and I learned how to breastfeed, and she came home from the hospital with us. At three months of age, she needed her heart surgery. It went really well, and she did amazing. She was only in the hospital for six days. She recovered well, picked back up with breastfeeding, started gaining weight, and life started to become "normal." At 10 months of age, Charlotte tested positive for DiGeorge Syndrome (22q).
Charlotte has had a lot of challenges, sees a lot of specialists, and has therapies as well. However, you would never know that she is a heart patient or has 22q from looking at her. She is a kid who has no dietary or play restrictions, loves to ride her bike, swim, play with friends, and play with her seven month old baby brother. She is really really smart too. She is an amazing kid, and her baby brother adores her.
You all are going to be fine, and you've got this. Give yourselves a break and some time to process all of this information, because honestly it is too much. Once you've had some time, keep on the proactive path that you're on. This is really smart of you. Write down questions that you and your wife have before seeing the doctors. If you don't understand something that you've been told, reach out to the doctor's office so that they can help you understand. Ask to speak with the family advocate in the cardiologist's office. Follow your instincts, and advocate for yourselves and your children.
Your daughter is going to be fine. She is going to be an incredibly strong willed individual though, so be prepared for that!
Sent: 03-16-2020 22:21
From: Jake Berman
Subject: Please Help
Hey all. New here. And I'll be honest, I wish I didn't have to be here at all. No offense. Forgive me if this is jumbled - my brain is a mess and I'm just getting familiar with the terms and everything.
My wife is 23 weeks pregnant with our 2nd daughter. We've had a lot of miscarriages and are very excited to have her in July. At our anatomy scan last week, we were told she may have a small hole that we could wait to try to look at again in a month or go to the local Children's Hospital for a better look (better tech). To minimize our anxiety, we chose option B and felt pretty confident that it wasn't going to be anything bad since our OB was so relaxed about it and worst case scenario, there would be a small hole and our 'online research' showed those usually heal themselves.
We were wrong.
After about 2.5 hours of ultrasound (she wouldn't sit still), our lives changed when we were told our sweet Julia would be born with multiple heart defects. We're crushed. We're scared, angry, worried, sad, and everything in between. Why is this happening? We've gone thru so much just to get pregnant and now this. Crushing.
The doctor told us she has an atrial and ventricular septal defect. Apparently that's not a huge deal? He said it's 'fairly common' and would be an elective surgery around 5-6 months. The part that he's unsure of due to her moving so much, and would be more serious, are some issues with her aortic valve being too small for 23 weeks, possible narrowing of the aorta and a possible subvulvar stenosis. Again, they didn't get a super clear view of this but he said this would require immediate surgery as well as multiple surgeries going forward and likely a 'Norwood Procedure'. He was explaining all of this and I was taking notes as best as I could but I really had an out of body experience - I couldn't believe we were sitting there listening to that.
He scared us more by mentioning that sometimes this could be caused by Down's or DiGeorge's Syndrome. We have not seen any other indicators of either syndrome on ultrasounds. My wife and I both had genetic testing pre-pregnancy in the midst of our miscarriage issues and both came back normal. We'll be doing a genetic test on baby asap.
He was pretty level-headed with us and said he has no concerns about her making it to term or making it through these surgeries (with the info that he currently has). So that's good to hear. He said the septal defect surgery would be like a 2 on the 1-10 difficulty scale while the aorta stuff would be like a 5. I don't know if any of that makes me feel better or not. It's f'ing open heart surgery after all.
I don't know what I'm doing here. We go back in 3 weeks to try to get a better look at the aorta stuff. I can't wrap my head around any of this. I go from 'ok let's do this, she's gonna rock it and be healthy' to 'oh my god i'm going to have a baby with a heart defect and a disability' to 'oh my god is she going to make it' every 5 minutes or so. We're exhausted. We don't know what to do. I'm trying to turn my worry and anxiety into action which is why I'm here. I don't know. I just feel helpless. We went from being excited about our daughter to just a feeling of doom. I don't know how else to explain it.
I don't know how to end this. Thank you for reading. Felt good to type it out if nothing else.