Roller Coaster

In the past few weeks we’ve been given an enormous amount of “ifs.” Nobody likes “ifs”, at least I don’t. We received two dramatically different calls from Dan, our genetic counselor. The first one was on a rainy Friday and the news was upsetting. Bennett’s body was looked over by a retired doctor that does consultation work at Winnie Palmer Hospital. His specialty is skeletal dysplasia and he believed through observations that Bennett’s diagnosis was a rare form of skeletal dysplasia. This was very upsetting to Travis and I because it was very likely that we were both carriers of this genetic disorder. We would have a 25% chance of reoccurrence risk with another pregnancy. As you can imagine, I was upset because it added so much concern to extending our family. We truly believe that Emerson should have a sibling yet I wasn’t prepared to put myself through this much anguish again. After a depressing weekend, we received a 7:30 am house call from Dr. Dan on Monday morning. I could tell from the excitement in his voice that he was about to deliver new news, better news! He had just entered his office and found the chromosome analysis from Bennett’s body. From the chromosome testing, he believed that Bennett’s diagnosis should be Triploidy. He proceeded to explain that this was not a genetic disorder (Travis and I were not carriers) and this would not have a reoccurrence risk with another pregnancy. I almost fell over with excitement until he told me that this was not the official diagnosis- he still wanted to talk to some of his colleagues.
A week had come and gone and I was growing impatient, I needed answers. Without Travis’ approval I called Dr. Dan’s office to hear if he had any new information. I ended up leaving a message and he quickly returned my call and spoke with Travis. The official diagnosis is Triploidy!! I honestly can’t explain how thrilled I am to hear this wonderful news! I finally have the answer that we’ve been praying for- and fortunately it is a diagnosis we can bare. Without getting into too much detail, Triploidy happens when 2 sperms and 1 egg join together when making a baby or 2 eggs and 1 sperm join together. Either way it happens, the baby will receive 1 set (23 chromosomes) from each part. Bennett was given 69 chromosomes instead of the normal 46 that humans need. Though both of our children have been given extra chromosomes, Emerson’s 3 #21 chromosomes and Bennett’s 69 chromosomes the conditions are not related- they are both just extra special.
I was given the book Gracyn’s Song after Bennett’s birth. I would like to share one of my favorite quotes:
There are three types of people in the world: those who are going through a storm, those who are coming out of a storm, and those who are about to enter a storm. As much as we would all like to avoid the storms in life, no one is exempt from them.
I never imagined myself learning about genetics or chromosomes when I was younger. To be truthful they are both way over my level of thinking. I’ve learned more than I ever thought I was capable of from my two children. I continue to learn and remind myself that someone much greater is in charge of my life. I have to trust in God to show me the path that I am meant to walk down!