Confirmation of diagnosis

Sigh. Where to begin. 

Campomelic Dysplasia, “CD”. That’s Abby’s official diagnosis. When I first got the call I was happy. I was grateful that it wasn’t Ostogenesis Imperfecta Type II, aka “Brittle Bone Disease”, which is lethal. That was their second prediction if it wasn’t CD. But then deep sadness appeared later that day because reality kicked in. 

CD is a very rare disease. 1 in 80,000 babies are born with it. It is a sporadic gene mutation. It is not genetic nor could it have been prevented or avoided.

There are many complications with CD. The doctors have told us that she has a 25% chance of surviving past the neonatal period (the first 28 days of an infant’s life). The doctors have told us that babies born with CD have weakened cartilage that forms the upper respiratory tract. Cartilage is needed to contract and expand as we breathe, but with weakened cartilage babies are unable to expand and contract on their own and therefore their windpipes collapse. There are medical interventions that are available and we hope she is a good candidate, but we won’t know that until she arrives in March.

Other serious complications of CD are bowed legs and limbs, club feet, short stature, possible cleft palate, 11 sets of ribs instead of 12, and spinal problems. Her ultrasounds show her legs and arms bowed, club feet and spinal problems. As for the other characteristics mentioned, we won’t know how ‘good or bad’ it will be until she is born.

I am now 25 weeks pregnant and I hope she stays put until her due date. I can feel her movements and flutters and I love it. She is growing everyday. She is small in length and okay in weight. But she is 0.5 ounces heavier since our last ultrasound and my belly is widening so I know she is growing. The bigger the better I say!! Otherwise, I feel fine pregnancy wise!

Every day is a gift. Before that day when we received the initial news that something was wrong, I took this pregnancy for granted. I took Abby for granted. I was like, this is my fourth baby, nothing can go wrong, nothing will happen to us. But here we are, faced with life changing decisions that will forever be with us. I’ve been told that God will guide us in making those decisions. I am certain He will.

Abby is a person, a life, a soul!! I love her!! She has chosen me. She has given me gifts and treasures already, before even meeting her!! What a blessing!!

Abby and I are on a voyage together with an unknown destination for now but a guaranteed one in the end. I see myself as her vessel. God is the steering wheel and she is steering with Him at her side. Right now, we are traveling in rough waters, but a calm wake awaits us.

Please continue to pray for Abby. Pray for her safe arrival and journey into this world. And may God take care of the rest. Amen.