Background
Normally, humans have 23 pairs of chromosomes (46 total), 23 from their father and 23 from their mother. The chromosomes are numbered according to size. The first 22 pairs are of the same type, one copy from each parent, and the 23rd pair establishes whether the child will be male or female. Here’s a simplified version of how it works: a mother always contributes an X chromosome while the father will contribute either an X to create a girl (XX) or a Y to create a boy (XY). All of our cells’ nuclei contain these 46 chromosomes.
Occasionally, there is an error in division when the sex cells (egg or sperm) are produced and an extra copy of a chromosome is included. When this sex cell with two copies combines with the sex cell of the other parent with one copy at conception, the child ends up with three copies of the same chromosome. The condition of having a tripled chromosome is called a trisomy. Some trisomies produce few to no symptoms; others are life threatening or universally fatal.
You may know of someone who has Down’s Syndrome which is caused by a trisomy of the 21st chromosome. Often these children will have learning delays and other sometimes serious birth defects. Similarly, children with Trisomy 18 or Edward’s Syndrome have three copies of the 18th chromosome. However, since the 18th chromosome is larger, the developmental defects are often more profound.
Symptoms and Outlook
Some of the outward expressions of Trisomy 18 could include:
- Defects of the heart and other major organs
- Unique head shape and lower ear placement
- Small mouth and jaw, some may have a cleft palate
- Clenched fists, often with overlapping fingers
- Feet with curved bottoms (like a rocking chair)
- Low muscle tone (leading to floppiness and weakness)
- Learning difficulties and slower growth
- Lower birth weight
- Perhaps more or fewer signs of the condition; every child is unique
In Stanley’s case, he had a small mouth and jaw which made feeding a challenge, clenched fists with overlapping fingers, interesting ear shape and placement, lower birth weight (5 pounds 12 ounces). He did not have a cleft palate, noticeable rocker feet or any other major issues that we knew of. His head did not seem abnormally small. Unfortunately, he also had a major heart defect which we originally were told was a “simple” ventral-septal defect (a hole between the left and right half of the heart), but turned out to be a more serious condition called Tetralogy of Fallot.
Really though, even with all of those technicalities, he looked like a handsome little guy to us! He seemed to be aware of his surroundings, he would respond to touch, he would let us know if he needed something (but wasn’t as demanding about it as some babies are), and even seemed to attempt verbal communication at least once by attempting to imitate talking sounds while looking directly at his dad. Aside from his heart problem, our hope was growing that he would beat many of the expectations we had read about.
How Long Will Our Baby Live?
For most babies with Trisomy 18, the only melody they will hear is the soothing sound of their mom’s heartbeat as they slowly and peacefully fade away before birth. Of those who do survive to birth, the majority will experience a fleeting life measured in minutes, hours, or days, the average being somewhere between 3 days and 2 weeks. A minority will see their first month. About one or two out of ten will make it for 6 months and about one or two out of twenty will celebrate their first birthday. There are rare reports of individuals living into their late teens and perhaps beyond.
We were blessed with much more time with Stanley than most: just over 24 weeks. We will forever be grateful for every one of those moments. In that time, his expressions and movements showed us and the medical staff that he knew us as he would respond to our words and touch. We got to know his personality — he was more than just a statistic, he was a person who made this world a better place.
What Happens At the End?
The information we received was that many of those with Trisomy 18 will pass away from “central apnea” which meant, as the doctor put it, that the baby would be sleeping and would simply “forget to breathe.” Others would succumb to an illness, still others would go when their heart would suddenly stop for an unknown reason. The way it was described to us sounded peaceful.
On the other hand, considering that we were referring to our child, the prospect was troubling and something which no parent wants, It was good to know that Stanley wouldn’t likely feel any pain, but we were prepared to try just about anything to prevent it.
Is the Journey Worth It?
In a word: ABSOLUTELY.
Stanley’s life was like the unforgettable bloom of a rare flower: tragically fleeting, beautiful, precious, and life-changing. Before he was born, we (like many others) were counseled to terminate his life, advice which we immediately and steadfastly rejected. We reaffirmed our decision to give him his chance at life, for however long it would last – even if he would only experience the warmth, safety, and love of his mother’s womb – because every human is indescribably valuable, even those with disabilities. We asked God to bless us and strengthen us, because we knew the road ahead would be difficult.
Once he was born and we were all surprised at how well he was doing, we started to get to know him. We have had other children and have met countless others, but Stanley was like no one else. He brought a lot of joy to our home with his sweet personality. He had a way of communicating, of trusting, of just being – he left a mark on us with his strength of character and will to live.
We found that the more he lived, the more we wanted him to keep living, and the more difficult would be the wait to see him again in the world to come. At the time, we felt like we were helping him with all of his needs, but he was also helping us to become better parents, more aware and present, more grateful, more connected to family and friends, more willing to risk loving, more ready to learn.
Our journey with a child afflicted with Trisomy 18 was challenging, scary, joyous, heartbreaking, overwhelming, and worth every minute.