Driving to D.C. Children’s Hospital yesterday was so much different than my first trip there. On a wild ambulance ride, I had arrived there on a stretcher to be reunited with my husband and my sweet little girl, Callie. I was filled with anxiety, fear, and physical pain from my C-section. Yesterday was a completely different experience. I felt pain, but this time it was emotional pain and a sense of dread as we neared the hospital. We were on our way to meet with the genetics team that had analyzed Callie’s chromosomes and determined that she had Neonatal Marfan Syndrome.
As we drove through the city, we passed a deep gaping hole where construction crews and cranes busily worked to build a new building. I couldn’t help but think of how that deep hole in the ground was much like the feeling of emptiness I had in my heart without Callie. In the hospital for the first time since her death, I had to fight back the tears that welled up in my eyes. It brought back so many hard memories. I was a bundle of nerves as we made our way to the genetics office. When we got there, we were the only people in the waiting room without a child. It just felt so wrong. I couldn’t help but wonder what brought the other people to this place. Were they dealing with hardships too? Were they scared like me? After Callie, I will never look at people the same way again.
After being called back, a member of the blur of doctors that assessed Callie sat down and explained her diagnosis to us. She was kind and put things in a way that we could understand. Thinking back to the construction scene we had driven by on our trip to the hospital, I couldn’t help but think of the parallels between genetics and construction blueprints. I will try not to bore you, but here is how I understood it:
Just like blueprints are the plan for how a building is constructed, genes contain the plans for how we should be built. They tell your body what “building materials” it needs in order to give you blue eyes instead of brown, or how short or tall you will be, for example. The genes are stuck together in long strings called chromosomes. Imagine stapling all of the blueprints for the individual rooms in a skyscraper together to form an overall construction plan for the building…that is like chromosomes. We each should have 23 pairs of chromosomes, one set from mom and one set from dad.
The genetic counselor told us that there was a “misspelling” on Callie’s 15th chromosome on the FNB1 gene. She had some “insertions” and “deletions” that affected the gene’s ability to create the protein fibrillin effectively. So going back to the construction analogy, on one page of Callie’s blueprints, someone left out crucial information (like a support beam or something!) and put in extra stuff that didn’t belong. That could really mess up the whole building! When these happen on the 15th chromosome at that location, a person winds up having Marfan syndrome, a genetic disorder that affects a person’s connective tissue. Connective tissue holds your body together and helps control growth. You can find connective tissue throughout your entire body, so the disorder affects many different systems. People with Marfan Syndrome are often very tall with long limbs. They also often have heart, vision, and/or skeletal issues. The National Marfan Foundation’s website is a great resource if you would like to learn more.
After researching Marfan Syndrome, we learned that many people with the disorder live full and healthy lives. So why then, was Callie’s life cut so dramatically short? The genetic counselor explained to us that Callie’s “misspelling” occurred in the “critical region” on the gene that can cause Marfans. Most of the time this means that a child with this sort of misspelling will develop Marfans in its most severe form, where physical symptoms are glaringly obvious at birth, thus the term Neonatal Marfan Syndrome. This explains Callie’s long fingers, loose wrists, contracted joints, and heart valve issues among many other things. The prognosis for Neonatal Marfan patients is very grim… living only 1-2 years max due to the severity of the heart issues with these babies. The doctor explained that to have a case as severe as Callie’s is extremely rare. According to her research, approximately 1/20,000 people have Marfan Syndrome and about 10% of those cases are Neonatal Marfans. Someone want to try the math on that for me? It might as well have been one-in-a-million in my mind.
All I know, though, is that it is much more likely for us (or anyone for that matter!) to have a child born with a genetic disorder than actually hitting the lottery. So why does no one talk about this? Before having Callie, genetic disorders seemed like a distant thing that could never happen to me. I did not give it a second thought. And now we are those people…the ones that it happened to.
We continued to grill the counselor with our burning questions. How did this happen? If this is genetic, do we have Marfan Syndrome too? How will this affect future pregnancies? She patiently answered each one of them. About twenty-five percent of Marfan cases are the result of a ‘de novo’ mutation…essentially that means that they are spontaneous, not inherited from the parents. Most neonatal cases are the spontaneous type. She said that no one knows why these mutations occur. They are a true mystery of life. It is unlikely that John or I have Marfan syndrome since we show no physical symptoms, but the genetic counselor began the process for us to be tested just to rule it out. As long as we come back negative, our chances of having another baby with Marfan syndrome are slim, but slightly higher than the average person since we have already experienced this mutation once before. We will have to have future pregnancies monitored very closely by a maternal fetal specialist.
It felt good to have answers and it was reassuring to hear that it is unlikely that we will have to face this again, but it was so scary and hard to talk about our sweet little girl in such a scientific way. Despite the error in her “blueprints”, we think that Callie was a beautiful baby. Unfortunately, the building that was her body was not built to last. We are only left to wonder about God’s architectural plans. Life feels a bit like a demolition right about now. But I suppose, if I put on my hard hat and stick to His plans, that through the ashes- God will build something beautiful with this life I live.