Monday, May 10, 2010

"Probably non-lethal"

Today, we went back to the public hospital for another scan. I'm now 28 weeks and the last scan was 4 weeks ago. We got to the scan and found out that our previous doctor has moved to a different hospital so we had a new doctor who didn't know anything about our case - although she had obviously read our file in advance. After a small amount of apprehension, my mind was put to ease when I found that she was by far the best doctor we've seen since our regular obgyn (who is also great) transferred us to someone else since this was "outside his area of expertise". I googled her once I got home and found that she's actually the department head for the Prenatal Diagnostic group, so no wonder she's so good :) She was both caring, but still forthcoming about her medical opinion about our baby. 

At the beginning of the scan, we started by just talking about the situation, about what I specifically wanted to look for, about what a possible diagnosis was. She was very attentive and she acknowledged that we had done a lot of research about the situation!! 

So here are the results from our scan this time. Again, being in the public hospital, we didn't get pictures to bring home so I've got nothing to show, I'll just explain the situation.

Limbs: the limbs are all still behind, now all the bones are 7-8 weeks behind. Some of the bones do not appear to be straight, but they don't appear to have been fractured or anything like that which is good news. I want to be able to rule out a condition called "Osteogenesis Imperfecta" or brittle bone disease because if the baby has this condition, a vaginal delivery could potentially be harmful for her. The doctor said that she does not think that it is the most severe form of OI, but she could not rule it out completely at the moment.

Head size is normal, body size is normal, no problems with any of the internal organs, no fluid on the brain, nothing to worry about there. 

Rib to abdomen ratio: this is the measurement I've been keeping my eye on the most - and it's better today! Up to 0.8 which is in the "normal" range! This means that the lungs do have quite a bit of room to grow and show be able to function normally once the baby is born. 

At the end of the scan, I asked the doctor what she thought some of the likely causes might be, and she said that it was probably not Achondroplasia (the most common form of non-lethal dwarfism - I already suspected that though) but she did say the words I've been waiting for hear a doctor say for the past 3-4 months now - she said "It's probably non-lethal"!! 

I was so happy to hear that.  I mean since the beginning of this journey, when I researched these issues, it really seemed to me like medically, it was most likely non-lethal - and even when our previous doctor told me that he was leaning towards a lethal diagnosis, I didn't really believe that he was right. But it's so reassuring to hear a medical doctor look at our scans and come to that conclusion for herself!

I asked the doctor whether she thought it would be beneficial to meet with a dwarfism specialist/geneticist before the baby is born, and she is now going to set up an appointment for me with him. He should be able to provide us with more information about a specific diagnosis and also what to expect after the baby is born. Hopefully we'll be able to see him soon.

This visit today has really raised my hopes - not only of the situation of our child, but also of the medical system here in Hong Kong. I'm looking forward to being able to talk with the geneticist about it and getting his opinion on it as well, and I'm looking forward to once this bub is born and being able to settling in at home with her. I know it's still a long road but I'm so relieved that most likely, we will be able to bring our little one home.


  1. Hi Nicole!
    I never mentioned anything before but I have been reading your blogs and I'm so happy that you got such a positive feedback from the doctor this time.

    I've been praying for you and your baby and I wish you all the best for the remainder of your pregnancy.


  2. I'm ecstatic to hear this, Nicole. We have been waiting and are very much looking forward to meet the little one in person! Keep growing baby!

  3. Wonderful, wonderful news. I am so so happy to hear the words "non-lethal"!

  4. EXCELLENT!!!!

  5. Congratulations! That is all wonderful news. I am so thrilled to hear she is at 0.8! That is just fantastic.

  6. This is great news! :) Still praying!

  7. Your scan sounds similar to the scans we had with Grant. His limbs were about 8 weeks behind for the second half of my pregnancy. His head was of normal size, and his body was normal sized. He always had a bell shaped body though with his chest being too small. This did cause some breathing problems when he was born, but only for the first month. Grant has a very large belly now, our little chub :o), so he still appears to have a slight bell shape to his body. His leg bones appeared curved in the ultrasound, but there was no sign of brittle bones. Hope that helps, glad to hear the good news!