Hi. Didn't know what the right forum for my daughter's case would be. She was born sep 2011 through acute cesarean w35 because she had stopped growing; she weighed 1.7Kg. Right away was hon diagnosed with CHD: a huge PDA, ASD and VSD. She had blood in the lungs, high CO2 levels, breathed really fast etc etc but she found her balance and we took her home with medication and had extreme care to avoid virus and bacteria.. She had heart surgery when she was 13 months old after symptoms of heart failure. Her heart is OK now. Wait, that's no it.. The reason I'm concerned or amazed is that my daughter has so many "1 in 100" features and I wonder if there is any connection or if it's even common for people to have a lot of peculiarities at the same time.. She has a huge strawberry hemangioma on the back of her leg (they are usually on the face, so it went quite well after all), her little toes are curled inwards, she's left handed, heart lung veins have a rare morphology (not a cause of concern though, just remarkable even for her cardiologist), she has a classic autism diagnose and currently under examination for epilepsy. She is also unconventionally smart and has a photographic memory- not bad at all but a sign of some imbalance in her brain. She has also an eating disorder, totally understandable given her two main conditions but I had to say it anyway.
She is wonderful and we have all our focus, time and resources on her; we have a lot of support from many specialists ( we live in Sweden) but I just can't get an answer about these many coincidences. I didn't do anything but take iron and folic acid during pregnancy and did all as textbook says.
We wanna give her a brother or sister but we're just so scared... Can anyone help us?
I am not specifically aware of any syndromes that would connect these together, although I would speak with a geneticist about this. Congenital cardiac defects occur in 1% of the population, and are the most frequent birth defects, so the presence of a congenital defect does not necessarily lead to a specific diagnosis for your daughter. Unfortunately, we also may not get a specific answer, either, unless there is some genetic testing that your local provider can perform.
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