The appointment went well considering. It was nothing that we haven't already done. It was me, E and a genetic counselor. We had to re-hash all the problems in our ttc journey and families medical history. She noted that nothing thus far has raised any concern or red flag from all of my testing She was pleased to see that we were pro-active in our situation and did all our preliminary testings. She explained that and ASD can not always be seen on their level 2 u/s's but she would request the dr to take a good look. She also explained that my fused vertebrates _( klippel-feil syndrome) is just an abnormality that has no genetic pattern. She says she has to tell me that there is a 50/50 chance that it will be passed down - but thinks that it is actuallu much lower due to my nt scan, afp results. Same with the ASD. She has suggested that the dr ( when i see a dr) refers me to a cardiologist regarding my 2 strains for the MTHFR disorder. I found out that the mthfr is a folic acid deficiancy. She suggested that I take atleast 1 mg if not 2 of folic acid for the rest of my life. (that was good to know) The cardiologist will do an echo-cardiogram for myself to just "make sure" all things are peachy.
I expressed my concern about every appointment that I go to adds a new demand on me and it makes me over anxious. (through tears) Like someone stated in a comment - I told her that I am trying to manage my fears but these appointments and the appointments that cause more/different appointments make it hard for me to control my anxiety and I was very unhappy about the way that things have unfolded. I made the counselor tear up - she felt bad that this was doing the opposite as to what it was supposed to do for me and she hoped that I could understand that I am still beng treated for a normal pregnancy until/if they find something wrong. I explained that I was tired of looking for something to be wrong. And that I was tired of "pre-cautions". She expressed that the next appointment with the U/s and the Dr on the 19th will give us more concrete answers and that I shouldn't worry and That hopefully all my fears will be able to go away after this next appointment. (she didn't work for the perinatals office - so i felt bad that i cried on her)-All things considered - uninformative appointment but I decided to take the rest of the day off and spend it with my husband for now.
On more happier news - I am 20 weeks today. 140 days in 140 days to go! Half way there and regardless of the crying - I feel great and I am going to enjoy this regardless of my anxiety!
Again, I cannot thank you enough for your encouraging comments and emails that let me know others "get me". Thank you thank you - I need that reminder sometimes