Trisomy 18: Facts and Friendship

I have a close friend who is expecting her second daughter in about four months. The other day I received an email from her about her baby girl. I opened the email, fully expecting to see ultrasound pictures, read wonderful news about how the baby is developing, how big the baby is measuring, and other joyous news about her pregnancy. Instead, I opened an email filled with heartache. My friend’s baby daughter was recently diagnosed with a condition called Trisomy 18, or Edward’s Syndrome.

I will be honest with you, I didn’t know much about this condition when my friend emailed me. I have had two successful pregnancies and never gave a thought to something potentially being wrong with either of my children, or to any of my friend’s children. This just doesn’t happen to anyone I know, it just couldn’t happen to anyone I know. Unfortunately, I was wrong. I knew I needed to educate myself if I wanted to be any help to my friend during this difficult time.

Trisomy 18 is a chromosomal abnormality that occurs in 1 out of 3000 live births. At conception, 23 chromosomes from the father and 23 from the mother combine to create a baby with 46 chromosomes. When an infant is diagnosed with Trisomy 18, it means that the baby has three of the eighteenth chromosome. Trisomy 18 is most always fatal, with most of the babies dying before birth. My friend has a 40% chance of her child being born alive, a 20% chance of her daughter living less than one week and a 5% chance of her daughter living one year. Heartbreaking!

Trisomy 18 is diagnosed using extensive prenatal testing. Most often, there are some underlying abnormalities that are discovered at a routine ultrasound. This is where my friend’s journey started: a routine ultrasound. The doctor’s discovered during this exam that my friend’s daughter had Spina Bifida, which is common with Trisomy babies. Because of this, they were asked to come in for an amniocentesis. The amnio came back positive for Trisomy 18. That was when my friend and her husband were faced with the very real fact that their daughter was not only going to have multiple disabilities, but also will most likely be born an angel.

There are several characteristics that babies born with Trisomy 18 may have. They often have heart defects, kidney abnormalities, Omphalocele(a portion of the intestinal tract located outside of the stomach), esophageal problems, clenched hands, cysts on the brain, delayed growth, a small jaw, and low set ears. Most infants will also have severe developmental delays.

After diagnosis and much discussion with medical professionals, parents are faced with deciding between terminating the pregnancy, or carrying the baby to term. It really is a decision that no parent should have to make. It is also a very personal decision based upon many things. It is not a decision that is made lightly, by any parent in this position. As my friend said, it was truly the hardest decision she and her husband have ever had to make.

My friend continues to amaze me with her strength. She has offered all of her friends and family advice on how to be of support to her and her husband: be honest, ask questions and don’t be afraid to cry about it. I have definitely done all of that. I have also educated myself on this particular condition. I now feel more prepared to be there for her as she continues in this journey. Trisomy 18 is definitely a journey for any family experiencing this diagnosis. It won’t be an easy route to travel and it won’t be the outcome parents hope for after birth. No parent should have to say goodbye to their child, and unfortunately with this particular condition, they will.

My advice for people who are close to someone carrying a child with this condition is to simply listen. Ask questions. Learn as much as you can. Be supportive. According to my friend, these are the things that are getting her and her husband through this incredibly trying time.

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