Charlotte’s Story: From Trisomy 13 Diagnosis to Lasting Legacy

Our daughter, Charlotte Grace, was diagnosed with trisomy13 (an extra copy of the 13th chromosome) at 16 weeks gestation. We were hit with all the grim stats, myriad potential birth defects, and the term “incompatible with life.”

She was born full term at 39 weeks, breathing and fully alive, and began to defy every statistic we were given.

She lived for 6 days. We were discussing ways to improve her quality of life. Her QUALITY of LIFE, after being told she was “incompatible with life.” I have trouble not believing that, had the infection not happened, there is a good chance she would have still been with us here today.

This is Charlotte's Story and the story behind the Compatible with Life 5k that carries on her legacy.

We found out I was pregnant with our third child in November, excitedly told our family at Christmas, and not so secretly hoped for a girl (a baby sister to our two boys). At my 10-week appointment, we drew blood for the NIPT test and excitedly waited to be able to reveal the gender. Instead of getting the “your results are in” email, I got a call from our midwife. Immediately my heart sank. I heard “high risk for trisomy 13,” “incompatible with life,” “a genetics counselor will call you on Monday.”

Why they didn’t just wait until Monday to call instead of just before the offices close on a Friday, I have no idea. Ultimately, spending the weekend going down my own rabbit hole ended up being a blessing in disguise. The resources I found myself were infinitely more helpful than the awful stats and support said genetics counselor provided the following week.

I had only briefly heard of trisomy 13 before this. Most of my friends and family had never heard about it at all.

Information and Statistics about Trisomy 13

Here is some basic information about trisomy 13 (and trisomy 18 because they are closely related)

Because most people have heard of Down Syndrome, it’s a helpful comparison. People with Down Syndrome have 3 copies of the 21st chromosome instead of the typical 2. Trisomy 18 (Edwards Syndrome) and trisomy 13 (Patau Syndrome) means 3 copies of the 18th or 13th chromosome respectively, instead of the typical 2. Trisomy 21 occurs in approximately 1 in every 700 babies. Trisomy 18 occurs in approximately 1 in 7,000 live births, while trisomy 13 occurs in 1 in 12,000 live births. Trisomy 18 is the second most common genetic disorder and trisomy 13 is the third most common after trisomy 21.

The actual effects of trisomy 13 and 18 is a very broad spectrum but generally mean a predisposition to congenital malformations (birth defects), especially midline defects affecting the heart and brain.

The statistics given to us by our genetics counselor for trisomy 13 were outdated and unnecessarily bleak, saying a 50% chance of being born alive, a median survival of 2.5-7 days, and a 6-month survival of 5%. No hope beyond that was given.

The outlook for this diagnosis is changing all the time. With new research and greater availability of medical interventions children with trisomy 13 and 18 can live for years. A study done in 2017 (1), the largest cardiac surgery study for kids with trisomy 13 and 18 in the US, reported that the median survival post-discharge was 16.2 years. Another study in 2012 (2), concluded that “of infants who received interventions, 50% lived to over 1 years old.” Additionally, “89% of parents from this study reported a positive enriching experience regardless of lifespan.” This is so different from the information I and most parents in a similar situation received about our children.

Resources for families with children who have Trisomy 13 or 18:

• SOFT - Support Organization For Trisomy
• The Stella Effect
• Extra to Love 
• Verity’s Village 
• Abel Speaks
   

Charlotte’s Story - From Diagnosis to Legacy

We first found out that Charlotte had a strong probability of having trisomy 13 via the NIPT genetic screening test at 13 weeks. It was a huge blow. Everyone was so excited to find out the gender, hoping for that girl after 2 boys. They called on a Friday and basically dropped the term “incompatible with life” on us then said the office was closing for the weekend and someone would call me on Monday to set up an appointment with a genetics counselor.

I spent the weekend spiraling, going down the rabbit hole of statistics on the internet and then finally finding some hope and community through many of the resources listed above. 

We met with the genetics counselor the next week. To be honest, she was the worst person we interacted with out of all of it. We confirmed her diagnosis via amniocentesis at 16 weeks. At that time the only intervention offered was termination of the pregnancy.

For the record, I believe in the woman’s right to choose. I also believe parents given the diagnosis of trisomy 13 and 18 deserve to be informed of the hope alongside the statistics. Frankly, that didn’t happen for us until we found it for ourselves.

At the 20-week ultrasound we were prepared for the worst and actually ended up getting better overall news than we expected.

In her brain they were saying she would have very mild Dandy Walker Syndrome, but it should not affect any vital function - mostly balance and coordination. In the end her brain trended more and more toward normal. She ended up having some issues with her pituitary gland and that's about it as far as we knew in her 6 days. She had an MRI scheduled for the next week but there was nothing overlay concerning there.

Her heart was the big thing we were watching. At the 20-week ultrasound they said Tetralogy of Fallot, then they said Double Outlet Right Ventricle when we met with the fetal cardiologist at 24 weeks, then at the follow up at 28 weeks they were saying “only” a moderate VSD (ventricular septal defect, a hole in the wall of her heart) which ended up being the case after she was born. I’ve talked to a lot of moms where this was the case with their little ones' hearts as well, as in the prognosis got better each time. It seems that often babies with trisomy 13 and 18 are simply slower to develop in that area.

Some other things they noted on that first ultrasound were a missing gallbladder and some enlarged kidneys. The kidneys also trended normal throughout the pregnancy, but she did not have a gallbladder or spleen.

The big unknowns leading up to her birth were her lungs and digestive system because my body was doing that work for her. She far exceeded our expectations after birth with her heart and lung function, only needed a cannula in her nose with a little extra oxygen on day 1, down to room air on day 2 and off all breathing support on day 3. All while maintaining her oxygen saturation systemically.

The doctors, nurses, and therapists were all in awe of her. They had never seen a baby with trisomy 13 thrive the way she did. She changed hearts and minds to what being diagnosed with trisomy 13 meant. We begin occupational therapy for her hands and feet and discuss other ways to improve her quality of life. 

On day 4 of her life, she developed an aggressive infection called Necrotizing enterocolitis (NEC - 1 out 1,400 full term babies in the NICU are affected) that ended up perforating her intestines a few days later. At that point we had to decide between a very risky, unpredictable surgery with only at 30% success rate in “normal” babies. We honestly don’t know if it was just horrible luck that she ended up with that nasty infection or if there was anatomical defect that made it more likely. The fact that she had no spleen likely means her immune system was more compromised than most. Ultimately, we chose not to put her through any more pain with a risky surgery, make her comfortable, and let her go peacefully in our arms. 

Bottom line: Charlotte Grace was a fighter!

Medically, from diagnosis to delivery, her prognosis continued to improve.  She grew strong, measuring near the 50th percentile at birth. The abnormalities in her brain, heart, kidneys and bladder continued to trend closer to “normal” with each scan.

She was born breathing and fully alive and began to defy every statistic we were given. We were discussing ways to improve her quality of life. Her QUALITY of LIFE after being told she was “incompatible with life”.

She lived for 6 days, her heartbeat, she breathed on her own, she was compatible with life and knew so much love. I have trouble not believing that, had that infection not happened, there is a good chance she would have still been with us here today.

During pregnancy, the waiting to see and the not knowing was so hard. But the truth is there is no way of knowing. These babies surprise us sometimes and thrive. Everyone is different and special no matter how long they live. I connected with so many other moms who experienced so many points on the spectrum. Babies that lived only minutes or hours to weeks and months. I was fortunate enough to meet and spend time with a 3.5-year-old girl named Journey who has trisomy 13. She, now 5 at the time of my writing this blog, is beautiful and oh so happy!

The Compatible with Life 5k

The news (and the way it was originally delivered) was devastating, to say the least. So much was out of our control (which I do not do well with). Being given a life-limiting diagnosis for your baby sucks more than words can describe and then if you want to be fully informed to advocate for your child, all the burden seems to fall on the parents.

I am lucky to have found Chelsea, founder of The Stella Effect, and so many of the mothers in the rare trisomy community who have been incredibly supportive in this journey. These moms are true warriors.

They armed me with the questions to ask our medical team so that we finally felt supported, hoped that there may be a life for her on the outside (albeit shorter than we’d like), and celebrated her exactly as she is. They were some of the biggest cheerleaders for her in her short life and since her death have been an ongoing support system.

While still pregnant with Charlotte I was presented the opportunity to host a virtual race experience and asked Chelsea if she’d want to host it with me to benefit The Stella Effect and families of children with trisomy 13 and 18. Putting together the race was something I could do with all my anxious energy, and it grew into something bigger than I could have imagined. We’ve now hosted our second annual event!

The Compatible with Life Virtual 5k is filled with education, advocacy, community, and stories from some amazing mamas about their beautiful children. Most of all, it is filled with so much love for our children and determination to change the narrative about trisomy 13 and 18.

Over the past two years, we have raised over $27,000 through this 5k for The Stella effect to help children with trisomy 13 and 18 and their families.

But it’s about so much more than money!

It’s about hope.

Hope that families given this diagnosis in the future will see this and have a community to turn to.

Hope that medical professionals who are quick to offer the grim stats and “incompatible with life” wording will see this and open their minds and hearts to possibility.

Hope that this awareness and advocacy leads to more support, more medical options, and more hope in the future!

The Compatible with Life 5k is her LEGACY because Charlotte and all of our babies are compatible with life, love, and worthy of celebration.

Want to learn more about The Compatible with Life 5k?

1 - Peterson, Jennifer K., et al. "Long-term outcomes of children with trisomy 13 and 18 after congenital heart disease interventions." The Annals of Thoracic Surgery 103.6 (2017): 1941-1949.

2 - Janvier, Annie, Barbara Farlow, and Benjamin S. Wilfond. "The experience of families with children with trisomy 13 and 18 in social networks." Pediatrics 130.2 (2012): 293-298.