March 18 was selected as Trisomy 18 Awareness Day because it is the 18th day of the third month. I’m sure this is a day you’ve never heard of. Just as it was to me 11 years ago. But I’d like to change that by sharing my daughter’s story and our journey with Trisomy 18.
Some Medical Background
Trisomy is the presence of an extra chromosome in some or all of the body’s cells. This results in a total of three copies of that chromosome instead of the normal two copies. Most people are familiar with a form of Trisomy commonly known as Down’s Syndrome (technically Trisomy 21, or 3 copies of the 21st chromosome). But there are other forms of Trisomy as well. Most commonly Trisomy 13 and 18. I had never heard of Trisomy 18 until my daughter was born and diagnosed with Trisomy 18 (3 copies of the 18th chromosome).
Trisomy 18 affects one in 3,000-11,000 newborns and affects girls three times more often than boys. There are 3 forms of Trisomy:
- Full (3 full copies, a genetic fluke)
- Mosiac (an extra copy in some cells, but not all, also a fluke)
- Partial (a partial 3rd copy of the chromosome, which is an inherited form).
A Pivotal Decision
My husband and I declined to have any prenatal testing done when I was pregnant with our first child. This turned out to be the most povitol decision of our lives. We learned after she was born that she had Trisomy 18. Had we done testing, the doctors would have told us the absolutely horrible things they believed would happen to our daughter. They would’ve told us her chances of surviving to birth were slim. They may have told us flat out that she wouldn’t survive.
And being the niave, first-time mom I was at the time, I would’ve believed them. And out of fear, I would’ve terminated my pregnancy. Instead, we had 9 months of a purely blissful pregnancy unaware of what was to come. (And we have a beautiful, amazing, happy 10 year old now.)
Our Daughter’s Trisomy Diagnosis
The pediatrician quietly looked her over after she was born without uttering a word to us. When he did speak, he shattered our world. He told us he believed our little girl had Trisomy 18. And, following textbook knowledge, he told us she would live a few weeks to months. He advised us to take her home and love her while we could.
Before he came in, I had recently put some makeup on in anticipation of friends coming to see us. My dad had just come with some breakfast for me. I think I’d taken one bite or sip, maybe, before the doctor started talking. My makeup poured off my face and the food sat, getting cold. My husband and I held each other and our baby girl and bawled.
Learning More about Trisomy 18
After our daughter’s diagnosis, we naturally went to the internet for more information. What we found was so heartbreaking and overwhelming. If you google Trisomy 18, you will find heartbreaking data and statistics. Doctors will tell you that children with Trisomy 18 don’t survive pregnancy, and if they do, they will only live a few weeks or months. Statistically, they say only 5-10% will live to see their first birthday. The statistics were grim. It seemed like there was nothing but negative information.
But, I also learned that doctors used to tell parents of children with Downs Syndrome the same grim statistics. Before the medical community knew how to treat the heart defects of Down’s Syndrome, it was basically a death sentence. But today, thanks to modern medicine, there are many people with Downs Syndrome thriving in their lives and communities.
Finding Support & Others Living with Trisomy 18
I found a support organization and a Facebook group of other parents of children with Trisomy. It was difficult to see all the suffering families who had lost their babies or children. But it was also reassuring to see those who were living their lives with Trisomy 18.
In those early days and months, I was struggling to come to terms with my own reality. It was too hard to absorb all the information available and learn about all those other families. But it was reassuring to know they were out there. And when I was ready, I returned to those families for support and to support them.
They range in age from angel babies to 40 years old!
Changing Minds
They say everything happens for a reason. They say God gave me this child because I could handle her diagnosis. For me, understanding the reason why I was chosen to be the mother of a child with Trisomy was crucial to my survival as her mom. It took me a long time to come to the conclusion that my daughter was put here to educate others. Her purpose is to change the minds of others about what it means to have Trisomy. And it’s my job to help spread her message.
Educating Doctors
In the 10 years of my daughter’s life, I have learned more about chromosomes than I ever wanted to know. Most importantly, I’ve learned that chromosome research and education is still a relatively new thing. In fact, many doctors are not well educated about the effects of a chromosome abnormality. I’ve witnessed the shock on a doctor’s face who, after reading our daughter’s chart, meets her for the first time and was expecting something completely different than the thriving little girl she is. I have had to educate ER staff about Trisomy 18 when we’ve taken her to the hospital. I’ve educated doctors and nurses caring for her about what limitations she has and doesn’t have due to her diagnosis.
One time, I even found myself in the unenviable position of educating an OBGYN about how he should counsel his patients about prenatal screenings. I was sitting in an exam room waiting for the doctor when I could hear him in the adjoining exam room. He was explaining to a pregnant woman and her husband the reasons for doing prenatal screening tests. He told that family that babies with Trisomy 13 and 18 don’t survive so they may want to do the testing so they can make decisions about their pregnancy. I broke down in tears.
When the doctor came in to see me I told him what I’d overheard. I told him about my own daughter, who I desperately wished I had there with me at that moment so he could see her in person. I encouraged him to do some more research and better educate himself on the current realities of Trisomy. Yes, the statistics are true and my daughter is a miracle who defies those statistics every day. But the reality is that chromosome research and treatments are changing every day and many doctors are still sharing information they learned from their outdated textbooks.
The Reality of a Trisomy 18 Diagnosis
My daughter’s life hasn’t been easy. We’ve almost lost her and we’ve struggled to get her to gain weight. She didn’t learn to walk until she was 4 years old. She is still nonverbal (but has no trouble getting her point across in other ways!). The other children I know living with Trisomy have varying degrees of abilities and disabilities. But there are two things they all know and spread like wildfire: love and happiness! And I shouldn’t call them children…the oldest living person in the US with Trisomy is currently 58 years old! So take that, medical statistics!
