August 3, 2014
I am not sure if I'm asking this question in the right place but something is genetically suss about my kids and it certainly makes me think. Thought it might give you guys something to think about. The situation is like this. Ok anyone who has had a baby knows about the nuchal tube test where the doctor does a scan and measures a pocket of fluid at the back of the neck to see if the fetus is growing normally. Anything over 2mm can indicate a chromosomal abnormality like down syndrome or many others. My son's was 6mm and my daughter's was 8mm there should have definitely been something wrong with my babies. I had a amniocentesis done and everything came back fine but the doctor said it certainly indicates a chromosomal abnormality. So both my kids are fine their big sister raised no questions like they do. As my son got older the pediatrician noticed strange physical features in my son that usually indicate a syndrome. Another more extensive dna test was done when he was about three once again normal he has been diagnosed with a global development delay other than that he has no actual problems or a syndrome. Now my youngest child and my experience with her has seriously made me start saying what is this. She has had what doctors call a strida since she was 4 weeks old. She also had features that raised questions with the doctors her rib cage is very noticeably a different shape. So once again more extensive dna testing is done and once again nothing came up. At this stage the geneticist becomes fascinated especially because of how significantly different she looks to her siblings even though she and her big brother have been through the same tests they are very different. I had to put a stop to the further tests in the end she isn't a lab rat to be studied by these doctors and every test is fine. She ended up at an ENT with her strida and now she is 4 had to have her tonsils and adenoids out because they were huge and she is very small and skinny they were causing issues with her airway. Other than that she is fine.
The thing that stays with me is the obstetrician saying about how that gap being so big indicates a definite abnormal chromosomal change. Also the geneticist's comment "this is really weird" . I was even asked if me and my children's father were related and we aren't. I am starting to think something unexplainable has gone on with two of my children that has caused an undetectable genetic change and the geneticist pretty much has told me as much. It just sometimes comes to mind and makes me ask so many questions considering even though I was young and healthy when I had my children I had a few miscarriages. One unexplained one at 19 weeks with no indication what caused it. The baby by all testing and autopsy was fine they just don't know why. My obstetrician even shared with me that he felt these things were connected.
Yeah so there is a medical mystery that will keep you up at night and make you say wtf. I know every now and then I will see a documentary about medical mysteries and it comes to mind for me.