March is Trisomy awareness month. I found it fitting that this part of our story is when we became aware of the condition our son has. We are forever learning about the "enigma" we call our child!
Our son received a diagnosis of Trisomy 18 on January 6, 2011 when we were 17 weeks pregnant. Trisomy 18 occurs in approximately 1 in 2500 pregnancies. Almost 70% of unborn babies diagnosed with this condition are stillborn, so 1 in 6000 babies born have this diagnosis. The babies born living only have a 50% survival rate at 1 week of age and only 10% will celebrate their first birthday. Of those that see their first birthday, 60-70% will also live to see their 5th.
Receiving this diagnosis sent our family into a tailspin. I immediately began planning for all situations. My husband went to the internet while I turned to medical literature. He found hopeful stories while I dug into statistics. He remained hopeful while I feared that every moment would be the last with our son.
The medical literature gave me definitions of what we would be facing. I researched all of his potential external and internal anomalies. I researched treatments for each. I pondered over what I would be willing to do to help my son after he was born.
Medical research has found that 90% of children with Trisomy 18 have a heart defect. Our son was not found to have a defect on ultrasound. We did later discover his heart defect (a mild coarctation of the aorta or constriction of the major blood vessel that comes from the heart) when he was 3 months old.
We had already decided that we wanted him to be comfortable. Sounds easy enough until you think about what that word actually means. We decided that starving is not comfortable, so we agreed that if he needed it, we would place a feeding tube that would go either in his mouth or his nose and then into his stomach. We also decided that breathing was a comfort thing as well, and that if he needed oxygen, we would provide that as well. We were unsure about any other interventions, and we knew we did not want to immediately send him to surgery.
I realized around 30 weeks gestation after all my plans were made that I needed the hope my husband had found, so I too began search blogs and websites. Medical research can only take you so far. Even some of the websites for "Trisomy 18" left me feeling even more depressed.
I came across a blog about a little girl who lived 5 months with Trisomy 18. The mother had amazing faith, and her journals filled me with the desire to focus on love for my son and not his condition. I have since went in search of this blog, and it has been taken down. I wish I could let this mother know what her blog and journals did for me during that time of desperation.
My husband found hope in a blog about a little girl who received a trach because of obstructive apnea (something blocking part of or all of the airway so that air cannot pass). She was two years old during our pregnancy. We have since been blessed to meet this family and this amazing almost 6 year old little girl. She has been picked as one of our son's potential girlfriends.
I was still terrified by the time we hit the day of his birth, but I had strength through my research. I felt knowledgeable. I felt confident that we would make the right choices for our son.
He has continued to prove to us that we can never be prepared for what he has is store. He teaches us something new on a daily basis. It might be something pathological with his body, or it might be a reminder of what is important in life. I guess we fit right in with Janvier et al, 2012’s research study that found 97% of families described their child as enriching their family…our son certainly has!