Monday, July 6, 2009

19 weeks ultrasound..

My pregnancy went great, no morning sickness, no crazy cravings, every dr. appointment went as it was in the book, great 8 weeks ultrasound.

I did not even think about my 19 weeks ultrasound, I was just exited to see our baby again, how he/she is growing. My hubby and I decided do not find out if it is a boy or girl, because we did not really care, as it is our first child.

My husband was running a little bit late, so I was waiting for him so we could look at our baby together. We were laughing looking at our baby, my husband was saying that baby got his nose and baby was waving to him. Ultrasound technician was very nice, she finished everything and told us that she needs to see something else after she comes back. We were laughing that she just disappeared for 15 min or so. She came back with the doctor, he started talking with us about baby's development, that this is good, this is good too, but.. there is a possibility that baby is a dwarf because of the shortness of baby's limbs. So we have to have 2 level ultrasound done in Akron Children's hospital.

We left speechless, it was like a bad dream.. dwarf.. how this could happen?? we are normal size people, have no dwarfs in the family history. First thing we did, when we came home we started searching Internet.. What a discovery! I would never guess that it is possible. I cannot forget how one women said that when you are pregnant, you expect your baby to be born healthy.. and here we are .. It took for them 2 weeks before they could schedule our 2nd level ultrasound, they were the longest 2 weeks. That day we had to meet ultrasound doctor, genetic counselor, genetic doctor, case manager and ultrasound technician. It was clear that something was definitely wrong. Both doctors explained us what they see, and what they concerns are. At this point, baby's limbs measured at 15 weeks, had was normal size but abnormal shape, chest was in 5-10 percentile, small but still ok. So it was definitely a dwarf-baby. We were talk what at this point it is hard to say if this is an achondroplasia or Thanatophoric Displasia. One doctor was 99% sure that it is an achondroplasia, another one that it is a Thanatophoric Displasia. So we were offered to have a amniocentesis done, which we did.. Another month os waiting the testing results.

First good news we got is that all chromosomes are normal, we passed heart echo test with A+, not no DNA test results yet.. until a week ago

2 comments:

  1. I am so sorry. My son Wyatt was diagnosed with Thanatophoric Dysplasia at our 18 week ultrasound. Terminating the pregnancy was NEVER an option for us, and it was very scary as we waited to meet our son. My water broke at 33 weeks and 2 days, and I finally got to meet my son on June 1, 2009. He was beautiful. 4pounds 0.6 ounces and 12 1/2 inches long. He lived for 2 precious minutes that I would not trade for anything in this world! I wish you the best of luck during your pregnancy. I have walked in your shoes and I wrote about it on my blog along the way. You can go to my blog at http://wyattnathaniel.blogspot.com. I hope my blog may be able to help you in some way... There isn't a lot of information or suppport out there for Thanatophoric dysplasia. I would be more than happy to answer any questions you might have or share our birth plan or pictures with you... all you have to do is ask.

    I am so sorry you are having to walk this road. Your family is in my prayers.

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