I’m still trying to figure out how much information I am comfortable sharing. Not for my sake (as TMI is my middle name. Well, along with Anne.), but for my children. Particularly Mr. A, as his is the private medical information most discussed/alluded to.
In a nutshell, my much-longed-for boys were born 5 weeks premature. Prior to birth, we had no notion that anything might be amiss with Mr. A. He was measuring small, but that was all. Upon birth, his cleft palate, plus “dysmorphic features” (which is the medical term for “funny-looking kid”, and really isn’t something that should be said, IMOhsohumbleyeahrightO), and small size prompted the NICU team to recommend genetic testing. It turns out Mr. A is missing part of one of his Chromosome 2s. We don’t know why (the geneticist and genetics counsellor we met with were both…hmm…what’s a polite word for twats?) and are trying to get insurance to fund testing to see if either of us have a balanced translocation. (When I raised this issue with them–we’d had the diagnoses for over a month before meeting with anyone about it–they both brushed me off, saying “If it ran in your families, you’d know.” This was AFTER we told them that my husband was adopted and knows zero of his family history, and I only know my mom’s side. This was also after they compared A to a poorly-baked cake, so it shouldn’t have been too much of a surprise.)
So what does this mean? Good question. There are only about 30 documented cases of his particular deletion. We were basically told not to expect much.
Well, I do. I expect the world, for both Mr. A and his (as far as we know, chromosomally-intact) twin, Mr. D.