Tuesday, January 02, 2007

Dwarfism???

Howie and I had an ultrasound at the hospital last Wednesday. Everything seemed to be fine. They listened to the blood flowing through my umbilical cord, placenta looks good, baby is active, fluid level is just as it should be. It looked like my body was doing it's job and she is getting what she needs from me. She's just a small baby. Then the ultrasound tech measured her limbs and asked us if I had a first trimester screening. I said that I did and that everything seemed to be fine. She kept looking through my file and said that she didn't have a copy of it. So, she got up and said that she was going to have the doctor come in and aparently also call my OB/GYN office to have them fax over my first trimester screening. Before the doctor came in the ultrasound tech came in and out a few times kinda acting a bit weird which started to make us nervous. Finally the ultrasound tech returned with a doctor. The doctor asked us about the IVF and why we had trouble conceiving. She asked if we had any genetic abnormalities in our families. We told her that Howie's side has Tay-Sachs and Familial Dysautonomia on his side, but he is only a carier of Familial Dysautonomia. I told her that I didn't have anything on my side. She then asked us if the OB/GYN told us why I was having an ultrasound there at the hospital. I told her that I thought it was because the baby seemed small. She looked surprised and she said it was because of Aislinn's short limbs. I know they mentioned she had short limbs but I thought that they were more worried about her overall size. The doctor and the ultrasound tech then looked at the measurements and I heard them say that her limbs were measuring at or below the 5th percentile. They didn't really say much to us, the doctor just started to measure everything again. The ultrasound tech left the room a couple of times looking for the fax of my records. A few moments later someone brought them in to her. She looked through them and said that the tests showed that we were at low risk for Down Syndrome and Trisomy 18. Howie asked if either were a concern at the moment and she quickly said "NO NO NO! We just like to double check that." We sat there quietly while they remeasured and checked her organs. They said that she has a really nice looking heart and kidneys. They also said that her top lip looks good, so does her head and bones. They finally finished and told us that because her arms and legs are so small there is a chance that Aislinn may have Achondroplasia Dwarfism. The size of her limbs are the only reason they can't rule it out, but she does not have any of the other signs of dwarfism. They asked me to return for a repeat growth scan on January 19th to see how her limbs are growing, but we may not know if she has dwarfism until she's born. Of course I will love her no matter what happens but it was hard to take at first. Not because I'd love her any less, I just never expected that. On Friday we met with my OB/GYN to go over the ultrasound results and she seemed less concerned. She told us that she wouldn't tell us not to worry or that it's not possible, but they are usually very cautious and want to prepare parents for the worst. It is very possible that Aislinn is just small and has my genes. My father, sister, brother, and I all have rather short limbs, but it's not dwarfism. It's just the way we are. Even petite size pants are too long on me and my sister and I noticed how long sleeves on us usually go all the way to our nuckles. I'm thinking she's probably just fine but I'm glad they are preparing us because if she does have dwarfism we won't be surprised by it.

My OB/GYN did say that this means I need to go in once a week for an ultrasound, once a week for a non-stress test, and once a week for my regular weekly visit. That's THREE appointments a week until I have the baby. That's ok though, it's all just to make sure that she's ok so that's fine with me. I have a bio-physical profile ultrasound in a couple of hours. It's nice to see her so often, I just wish it wasn't necessary.

42 comments:

MoMo said...

Amy--I am hoping for the best and that this is nothing and what is means is that she has your genes. Hang in there...as you said they are just trying to prepare you. Whatever is the outcome..Aislinn is a lucky baby because of her parents!!

electriclady said...

Hoping everything works out...which of course it will, no matter what the outcome. I'm sure you're worried but as you said, it's good that they're being really proactive and cautious so you'll be prepared no matter what.

soralis said...

Wishing you all the best and hoping this is nothing.

Take care

Brenda said...

patti cake, she will be the most adorable child whether her limbs are normal or a little short - she's gonna be a petite princess and i can't wait to meet her! i love you and howie and aislinn even though i've never met her. auntie brenda will spoil the crap out of her, and i've already begun to.... ;)

Anonymous said...

i was just told the same thing yesterday and am praying and hoping it is nothing. i will pray for you... keep us updated so that we know what happens...

Anonymous said...

i was just told the same thing yesterday and am praying and hoping it is nothing. i will pray for you... keep us updated so that we know what happens...

Anonymous said...

I was told the same thing when i was 28 weeks i have been going to the doctor twice a week since then i am now 37 weeks and we might delieever thursday april 30, 2009 i will let you know what happends in hopes that it is all well. i also have always had a problem with pants going to the floor and to long of sleeves and hope that is my problem also! good luck to you guys and good luck to me and my baby!!

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