Our fourth daughter was born with a rare condition, Trisomy 14 Mosaicism, a rare, difficult to diagnosis, and unpredictable condition. This is the story of her birth, diagnosis, and current life.
Six years ago there was anticipation and excitement for a new baby girl coming into our family. We already had three beautiful and healthy girls, so they were excited about the arrival of another sister. We were excited for another baby. We had completed all the preparation needed for our new arrival. We had great reports and ultrasounds from our routine doctor visits. We were just waiting for the arrival of our new little one.
Then, three weeks before the due date, worry had overcome us all. Why? Well, at a routine doctor exam at 37 weeks, the Doppler picked up on an irregular heartbeat. I was sent to the ER for further examination. Through hours of further ultrasounds and examinations, I was sent home with, “We will schedule an appointment with a high risk OBGYN.” Nothing else, no answers, nothing!
Fear, anxiety, worry — it all was very real! What was wrong? What happened? What did I do? Why? All the questions flooded my brain. The High Risk appointment came, and further evaluation determined the baby might have Down syndrome.
I was induced a week later and gave birth to a baby girl. Delivery was quick and seemed smooth, but our precious girl was struggling. She was not making it on her own. Off to the NICU she went. Throughout three full weeks in the NICU, we were told numerous possibilities about our new daughter, whom had been named Libby.
She did not have the traits of Down syndrome, but she was far from healthy. Libby had a heart defect, short proximal length, small chest size, frontal bossing, extra vertebra, hypoperfusion, hypoglycemia, and she required respiratory support upon delivery. Our visits were limited and Lib’s sisters went days without knowing what their new baby sister even looked like.
Three weeks into our NICU stay, doctors suggested genetic testing be completed. Libby had gotten stronger. Lib’s heart rate, blood pressure, oxygen saturation, and respiration had all stabilized, her sisters were able to view her through the windows, and our visits were unlimited.
Now all we were tackling was the heart defect and feeding. Libby was struggling to eat the required amount and had been kept on a feeding tube. As Libby got stronger, she began eating a little more, her heart defect had been identified as an Atrial Septal Defect (ASD), and genetic testing results were in.
Trisomy 14 Mosaicism
Trisomy 14 Mosaicism was the answer — or better yet — the question. What was it? What did it mean? What would happen? WHY did this happen? Would our baby be able to live or overcome this? We were devastated, upset, worried, and nervous, but also filled with love for our fourth baby girl.
Honestly, this condition presents differently for each one of the children affected. The actual disorder is an exceptionally rare condition where some cells in the body have too many chromosomes. A person usually has 46 chromosomes in a cell. In mosaic trisomy 14, a child has one extra chromosome or chromosomal material in some cells. Chromosomes are all numbered 1 to 22, and therefore trisomy 14 is where the extra chromosomal material is present in chromosome number 14. In Down syndrome the extra material is found at chromosome 21.
Typically, chromosome pairs have exactly the right number and amount of chromosomes, not too much or too little. For example, think of it as a book. If you were missing a page of a book, or a book had a random page added to it right in the middle of the book, the book would not be completely understandable. So, the 14th chromosome in some of Libby’s cells has extra genetic material, but because it is not in all her cells, which is called mosaicism, the impact is reduced. Think of a mosaic art piece as a combination, and our daughter has a combination of chromosomally normal and abnormal cells, though we have no knowledge of what cells are normal or abnormal. However, this makes the effects even more variable and very hard to predict.
There are common features to Trisomy 14, including short statue, failure to thrive, developmental delays, speech and learning difficulties, slightly asymmetrical growth, abnormal skin pigmentation, and heart defects. Some children experience eyes that are further apart, unusually formed ears, a broad upturned nose, small chins, a cleft or unusually formed palate, narrow openings for eyes, large mouths, narrow chests, and lowered eyelids.
How does this happen? Well, the actual cause of the trisomy is not known and is basically said to be an accident of cell division. It seems to be a mistake either in cell division of the embryo or in the egg or sperm themselves, which may have two copies of chromosome 14 instead of one each. This means all cells in the baby start with three chromosomes at chromosome 14. But next, typically at a very early stage of cell division in a baby, one chromosome 14 is lost, meaning some cells then have the correct number of chromosomes. This is why some cells have two chromosomes and others have three.
In 2012 when Libby was born, our genetic counselor found approximately 27 reported documented cases of Trisomy 14. As technology continues to advance, it is noted that more cases may be identified. Also, as the technology advances, while the research does not include life expectancy of patients, it seems to be that if the patient makes it through infancy, his or her survival rate is much higher. Identified patients survive with few medical problems, thanks to the advancements in medicine and surgery options for heart defects.
Libby continues to be the sunshine to everyone she meets. She has had her ASD heart defect repaired, and her submucous palate and velopharyngeal dysfunction repaired. She wears a heel lift for an inch leg length difference and continues to have intensive speech therapy sessions.
She will be starting school in August and does not meet a stranger. She certainly does not see herself as any different than her sisters and keeps right up with all that they do. She is a very gentle, caring, young soul waiting to make each person happy. When our skies are gray, she is the sunshine and happiness to help us through each day. While we try to teach all of our girls all about life, Libby teaches us all what life is really all about. A single sunbeam will drive away all the shadows, and this girl is our sunbeam. When storms come her way, she just adjusts her sails and teaches us all how to dance in the rain.