The following week I booked our officiant, which I was able to get recommended from a friend. And in the midst of it all, I got a phone call from the hospital. George’s genetic test results were in. Rich panicked and held my hand as I placed the genetic counselor on speaker. She proceeded to tell us that the findings were inconclusive. We were mind blown.. what in the world did this mean? She explained that they could neither confirm nor deny any CTD based off the panel; however they did find a FBN2 mutation that has never been reported. There was a chance that he had CCA- Congenital contractural arachnodactyly, and of course this was extremely rare. Some of the physical characteristics that come with CCA are tall height; skinny, long limbs; long, skinny fingers and toes; multiple joint deformities present at birth,”crumpled”-looking ears; and scoliosis. After we hung up the phone, I turned to Rich and told him there is absolutely no chance George had this. He was so incredibly active all day and the more he grew, the more active he was.

We took this information to our OBGYN where he continued to explain that he noted they were not able to locate the CSP- cavum septi pellucidi in his brain. He also suggested that we have blood drawn for a parental genetic sample. This would provide more information in regard to the FBN2 mutation that was found. It constantly felt that George was under a microscope. We were told that usually the CSP is harder to find later on in pregnancy, but they expected to see it. It wasn’t as concerning because they saw the corpus callosum, which was a thick band of nerves that connected the left and right sides of the brain.  The doctor also said that he noticed some scalloping in his brain. He recommended they conduct a brain MRI where I’d lay in a machine for 40 minutes while they took images of George’s brain. So we went ahead with the brain MRI, conducted a glucose test, and Rich and I had blood drawn to send off for parental testing. Rich went into a panic and of course, hit google instantly. He wouldn’t sleep and couldn’t focus on anything. He would tell me he just couldn’t handle if something was wrong neurologically and he felt so helpless. The next two days felt endless for us, but on October 5th, we got the phone call from our OBGYN to tell us that the brain MRI and glucose test came back normal. Another relief and that night, Rich booked our wedding venue at Asiate in the  Mandarin Oriental.

On October 11th, we received a call from genetics. I was in a flower shop with my mom trying to figure out arrangements for the baby shower, as well as, the wedding. This is the call we had been waiting for as it would provide a lot of information. If either Rich or myself had this gene that George presented it would be reassuring that he would most likely be healthy. Rich was constantly texting and calling me to see if I had gotten a phone call. While I was on the phone with the geneticist, he texted me yet again asking if the results came in and I texted back, “Yes, I have it!” He was so anxious and asked, “and????” I again responded with, “Yes..I have it.” He called me immediately, but he didn’t catch the hint that it turned out I had the same genetic mutation. I could hear the excitement in his voice and until this day I’m sure he teared up. He told me to come home because he’s taking everyone out to dinner to celebrate. The next day Rich seemed like a different man and it was as if it was all he needed to finally enjoy our pregnancy.