We finally got our amniocentesis test results. We discovered that Bubbles' has a defect in one of her genes that is responsible for producing a type of collagen that is necessary for the formation of connective tissues and bone. She has a lethal condition called, Achondrogenesis type 2. This condition is not passed on from me or DY, but an unfortunate spontaneous 1 in 60,000 occurrence. This ultimately confirms what the radiologist and OB were telling us.
It gives us relief to know that this situation is highly unlikely to occur in our future children, but we are sad that we may or may not get the chance to hold our precious Bubbles. According to literature, babies with type 2 are either miscarried, still born, or not live after birth because the lungs are underdeveloped (which can lead to a number of fatal medical conditions) and the small rib cage does not allow the lungs to develop. In addition to the type 2, Bubbles' condition is further complicated by a cystic hygroma and an encephalocele.
Our little warrior. Every night we rub my belly and talk to her, letting her know we love her, and how amazing she is. We just want to spend as many days as we could with her. I held my breath as the sonographer placed the ultrasound transducer on my belly, looking for the heart beat. Yes. It's still there. Bubbles wasn't moving as much today, but everything else generally seemed the same, though she appeared more puffy than two weeks ago.
Today, the OB brought up other considerations that crossed our minds already.
1) Depending on how far I can carry Bubbles to term, Bubbles' size would affect whether I can deliver vaginally or not. The encephalocele and the huge cystic hygroma would further make a vaginal delivery challenging and even not possible. I may end up having a C-section done, and there are risks that accompany a C-section, whether it is acute medical conditions (e.g. hemorrhage, shock, infections) or future consequences for pregnancy (e.g. no more vaginal births depending what kind of incision is made, higher risk for placenta previa, scar tissues that impact our chances of getting pregnant, etc). There is also a chance that C-section could be smoothly done.
2) As Bubbles' condition worsens, I have a very small risk of developing "mirror syndrome" where the mother develops sudden eclampsia (high blood pressure), swelling of hands and feet, which could be dangerous if undetected and untreated.
3) When Bubbles is approaching 30 weeks, and when we are ready, we can discuss with OB, neonatologists, and pediatricians to determine how I will give birth, my comfort measures, Bubbles' comfort measures (e.g. medicine, oxygen, etc), how much medical intervention (e.g. resuscitation, ventilators, etc) until Bubbles' enters eternal rest with God.
It is all too soon to tell because I am only at 22 weeks, but these are things for us to keep in mind when making decisions. We just want to keep loving our baby... we are not ready to let go of her. We want to meet her, hold her. I personally don't want to stop cleaning up the room to make way for a nursery... I don't want to stop doing the things that I would do as an expectant mother, like buying a crib, her little clothes, making a blankie for her, writing love letters to her, just because our situation tells us we would not be bringing Bubbles home. I want to create and preserve pieces of her.
I know you will all send us positive thoughts and keep us in your prayers, which I greatly appreciate. I am overwhelmed by your kindness, but at this moment, I personally just need some quiet time and not talk about Bubbles with others.
For now, please pray that:
- We endure, and walk through these valleys hand in hand with God, coming out as stronger husband and wife
- God's promises and comfort over our families
- Bubbles fights for as long as she could
- My health and safety throughout pregnancy and Bubbles' birth
- We create the best possible birth plan for me, Bubbles and DY
Need God to make us brave, casting out fears and doubts...
You make me brave - Amanda Cook
