Tuesday, August 6, 2013

Cloudy With a Chance of Cramping

Last week was tough, Saturday I was really angry, Sunday I was exhausted, same with yesterday. Today I had my amniocentesis. I was really nervous going in. Also in the waiting room. Then they brought me back and we did some preliminary ultrasound pictures and measurements. Then the doctor came in for my amnio, we did the local and then my squiggly wiggly child went everywhere he tried to stick the needle. After four times of trying to needle me and failing the doctor took a break so I could relax and so could our little one. After a few he came back in and gave me more local anesthesia and needled me again. This time it worked and we got the fluid. The needle sticks were painful and caused cramping but the removal of the fluid was like being vacuumed on the inside. Immediately after I was cramping and in pain. They told me I will cramp for 1-7 days and probably bruise. The fluid was a clear yellow though so that means baby didn't get needled. I am also supposed to stay off my feet for seven days, they did not forewarn me of this. So now we wait. We wait for 10-14 days to find out about the Fragile X and then up to a month for everything. Joe is supposed to blood work tomorrow. They did more blood work on me today too. Hopefully we find out as much as we can as soon as we can.

Just a lot of pain and cramping today. It'll be worth it for what we find out but boy am I feeling it. We just have to be strong and brave and hope that little one got my good X chromosome. Doctor said looking at the ultrasound that the baby looks great and "normal", so based on pictures and measurements the incubation seems to be going well thus far. We shall see though.

I just wish that Fragile X was talked about more and taught to us, we all learn about so many issues and if this is the number one inherited cause of mental and physical disability then it should be more well known. No one has really heard of this as far as I have discovered. Out of the dozens of folks I have personally talked to (including some in the medical field) and all those on Facebook I've found ONE person who has heard of Fragile X. ONE. Just ONE. 1 in 160 women are carriers like me, 1 in 800 men are carriers. These are NOT high numbers. This should be known to the public. Most states, I've found out, don't even test for this like California does. This is something I think should be MANDATORY. Again, number one cause. Why the hell is this so unknown?! I just can't, it makes me so angry.

 Keep us in your thoughts and hearts. Thanks dear chickens.


  1. Hey Alex, I am sorry you are going through all this stress. Thank you for informing us about fragile X. So what can the doctors do if they discover a baby has inherited the bad X chromosome? I hope you recover soon and hear some good news from the docs. I'm sending good vibes your way from Colombia ;-)

    1. Hey Rob, thanks for your well wishes. Basically if the baby is found to have FXS then there are different therapies and medications to try to help. It's similar to Autism in the sense that there is a spectrum you fall into and no two people are affected the same way. If the baby is just a carrier like me then as a male he would pass it on to his daughters (who could be carriers or have FXS) and as a female would have a 50% chance of passing it on to any of their offspring (who could be carriers or have FXS). The gene is more likely to mutate the further down the line you go. As carriers we also have issues, women have a 20% chance of premature ovarian failure and carriers over the age of 50 (men more so than women but all carriers have the chance) can experience early onset dementia, short term memory loss, tremors, seizures, etc. It's a lot to take in.

      If we decide to have more kids then we will go through this every time unless we pay for IVF to ensure my good X chromosome is passed on. Or we can gamble again. Or we can skip it and just adopt. Again, a lot to take in.