I Don't Even Know...

Oh boy I don't know. I don't know where to begin. I tried making a blog once before and kind of gave up. I had no idea what to write about. But my life sure has changed since then. It's like I jumped on this crazy roller coaster that I didn't even know I was waiting for, and it hasn't stopped yet. I guess I'll just start with our long journey to this point in time.

My husband and I have an amazing daughter named Ayla Quinn who just turned two. She is the funniest little thing I have ever had the pleasure to know. She is so smart and amazing and we are truly blessed to have her in our life. My pregnancy with her was as normal as it could have been. Absolutely nothing out of the ordinary. 

After having her we knew that we wanted to have more children. So three months after having her we started trying for baby #2. We anxiously awaited the day we could give our daughter a sibling. Well, a year passed and we were still trying. It was beyond frustrating and heartbreaking for an entire year to go by and be at the same place you were before. I went and talked to the doctor and she said to give it a few more months, so we did.

Finally, 16 months after deciding to have a second baby, we got our positive pregnancy test! We were so excited and happy, and just beyond words. But something felt off. I never really mentioned it to anyone else, but to me something didn't seem totally right.

Well we had our first "viability ultrasound" and the baby was measuring perfect! We heard the heartbeat, and my mind was at ease. I thought to myself, "baby is okay, you are just being overly cautious. Now you can relax."

We did the Sequential Screen with our second pregnancy just as we did with the first. We figured nothing would be wrong and hey, we'd get an extra ultrasound out of it so why not. After our second round of blood work, we got a call from our doctor's office. The PA called and said she didn't want us to worry too much, everything is usually fine, but our screen came back with an elevated risk for Down's Syndrome. We were really shaken up but were thinking that everything would most likely be fine and tried to not worry ourselves. 

At 18 weeks and 2 days pregnant, we went for a level 2 ultrasound. First we found out we were having a baby boy! Which I had a feeling about the whole pregnancy. Then genetic counsellor joined us in the room when the ultrasound tech turned to the counsellor and said he had some concerns about our baby's femurs. We asked him before he left the room if he could give us any more information and he said the baby's femurs were curved and short, it was a significant find but he couldn't tell us more than that. 

The doctor came in and said our son's long bones were all measuring about 3-4 weeks behind and his femurs had a significant curve. He said the baby had some type of skeletal dysplasia, or dwarfism, but he couldn't tell us what type it was. At this point I was okay and thought that wasn't too bad, something we could easily handle. Then he mentioned that some forms of dysplasia are lethal where the baby would not survive once born. This is the exact point that I lost it. Tears were streaming down my face. What if my son doesn't make it? I just couldn't even handle that thought. 

So we were next told to go to the Children's Hospital of Philadelphia (CHOP) to see if they could help us diagnose what type of skeletal dysplasia our son had. We got a call from CHOP a few days later saying that we had an appointment scheduled for two weeks later. So cue the first scary two week wait.



-I will continue with the rest of the story on my next post-