Well, our littlest bird is causing a fuss again. Since my last blog update we have found that the panel that was supposed to confirm Achondroplasia did just the opposite, it confirmed we were NOT dealing with Achondroplasia. So just as life was feeling happy again, now they tell us there is "reason for concern". Still, Sophia is doing ok in there... she is tiny at "aprox 2lbs 3 oz", with "tinnie tiny long bones". They can not find any real tips as to which type of Skeletal dysplasia we are dealing with. At this point, the plan is to hope for the best, and have the hospital take xrays after Sophia is born. We will then have the Xrays sent to Nemours Skeletal dysplasia team who will hopefully be able to give us a diagnosis.... or at least some insight! (Actually, our info is being sent all over, trying to find someone who maybe has seen the same growth pattern Sophia is following... maybe... just maybe... )
Sophia's biggest hurdle right now is her chest circumference. Her little rib cage needs to grow! Right now there is enough room in there for her little heart and lungs, but we need to maintain that chest size. We need her to grow!
Grow little Bird, GROW!
Praying for some answers! We love Dr. Bober and the whole team at DuPont!
ReplyDeleteThank you!! Angie D. has been on the phone with me so much the last few weeks, I feel like I know her already. It is phenomenal to me that she takes so much time out for me even though she has never met us in person. I can tell they are a special group of people who do their work from their heart!
DeleteHi Carrie, you don't know me but I saw your post from the facebook group: Parents of Little people. I read your blog. It brings up a lot of very hard memories for me. I have a little girl with Conradi-Hunermann Syndrome. It is very rare. I have only heard of a handful of kids with it. I remember being pregnant and being TOTALLY blindsided when I had my 20 week ultrasound and was told I needed to see a specialist because something was wrong. I saw the specialist and it just got worse. We were told that they couldn't decide what was wrong but it was probably some type of dwarfism. My initial reaction... I didn't really care and I couldn't figure out why the doctor was so concerned. I just felt that it was okay to have a short girl. When I got home from the appointment and researched it on the internet my heart broke. I didn't realize that the doctor was basically telling me that my baby was probably going to die. Lots and lots and lots of testing didn't tell us much. We just had to wait. Waiting for the unknown was super hard!! We had lots of ultrasounds and each time the measurements got further and further behind and more distorted. Her long bones were all super short, her chest was small, her head was the closest measurement to our actual due date. Well after much waiting she was born by C-Section (she was breech and the attempted version didn't work). I don't think I breathed during the entire thing until I heard her cry. When she cried I was so happy to know that she was alive! After being examined in the hospital and having x-rays we were given our diagnosis. We named her Lily. She is now a happy 6 year old. She has a whole bunch of problems associated with her syndrome. Like the story you posted on here (which I first read shortly after my daughter was born and helped me understand what I was feeling) we have ended up in Holland. I won't lie, it has been hard. I know that it will continue to be hard but I wouldn't change it for the world. I'm happy in Holland. Love and prayers being sent your way from us. Should you care to we have a blog (that I haven't updated in too long) about our family and there our pictures and stories about our daughter Lily.
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