Cincinnati Children's Fetal Care Center

Patient Stories | Anna and Trisomy 13

With First Birthday, Anna Defies Odds of Trisomy 13

Despite her condition, Anna enjoys a good quality of life

Megan and Neil DeRuiter never thought they would be celebrating their daughter Anna’s first birthday. 

Born with trisomy 13 – a rare and life-limiting genetic disorder in which a baby has an extra 13th chromosome – Anna wasn’t expected to live past her first month. 

But Anna’s case proved to be comparably mild. And now one year later, she is defying the odds and opening presents. 

Daniel T. Swarr, MD, a neonatologist and geneticist who studies trisomy 13, describes the bleak reality for most families and the ray of light for others like the DeRuiters. 

“The majority do pass away in their first 1-2 weeks of life, but there seems to be a small subset of children with trisomy 13 – on the order of 10-20 percent – who live for quite a long period of time,” said Swarr. “Those that survive the first six months to a year often live for many years afterward.”

Anna is different from most babies born with trisomy 13, in that she didn’t have the same life-threatening birth defects or breathing problems that lead to early death, according to Leandra Tolusso, a prenatal genetic counselor.

“While we don’t completely understand why some kids with this condition do “better” than others, we do know that certain factors – such as not having a serious congenital heart defect – are associated with longer survival,” said Tolusso.  

Even more good news is that Anna is getting bigger, eating well and meeting more developmental milestones. 

Significant improvement in her obstructive sleep apnea means she no longer needs to wear oxygen during the day, only at night. Ongoing treatment will continue at both Cincinnati Children’s and near the family's home in West Virginia for a wide range of other conditions, including seizures, speech therapy, occupational and physical therapy, congenital heart disease, eye conditions and dietary needs. 

Some might see a list of conditions but Megan sees something else. She sees a happy child. She sees her daughter smiling and playing every day. She sees a good quality of life.

Swarr smiles too when he hears of Anna’s continued success, and that of other patients like her. He believes their milestones and achievements should not only be celebrated, but also studied by geneticists around the country who can learn more about the developmental outcomes of children like Anna.   

“I think we can learn from all our patients, as physicians. And particularly from someone like Anna,” said Swarr. “It’s valuable for all of us to learn from her and the experiences of her family.” 

In Megan's Own Words

Anna’s mom, Megan, shares aspects of her pregnancy and thoughts about the treatment her daughter has received from our Cincinnati Children's Fetal Care Center team and other specialties.

On what she’d like people to know about trisomy 13: 

“What I want people to understand, and what I don’t think people understand, is that trisomy 13 is a spectrum. It can cause very severe defects, to where the baby passes away in utero. It can cause severe defects to where the baby lives for minutes after being born. Or it can cause more mild defects. I was told it was a death sentence. It is not a [guaranteed] death sentence. And whether these babies die in utero or live for a couple of minutes or for a couple of hours or for years – these kids are a blessing.”

“What people should also understand about trisomy kids is they do meet milestones. It’s delayed. It’s not at the same rate as a chromosomally typical kid. But Anna, she smiles, she plays, she laughs, she rolls, she lifts up her head, she lifts up her legs. She has just gotten so strong. She eats from a bottle. She eats baby food. She eats infant cereal. She eats Puffs. She loves to eat! She’s been doing wonderful in that aspect."

On Cincinnati Children’s: 

“We were very impressed by the facility, by the hospital, by how professional everybody was. The hospital is huge. It’s like an airport, almost. Once we figured out where we were going, we were just very impressed by everything.”

“We saw kids there with all kinds of different conditions. So I guess I didn’t feel so alone, knowing there were lots of parents with kids with different conditions who were seeking treatment, who were doing everything they could to get their kids the help they needed. That made me feel good.”

On how she felt the family's voices were heard by staff: 

“Anna being born in Cincinnati saved her life, not because she needed a lot of intervention – she really didn’t. But because it was never a question of how far do you want to go? What I liked about Cincinnati is they let us – my husband and I, as her parents – make the decision. They didn’t just say: ‘We are not doing this and we’re not doing that because she has this life-limiting diagnosis.’ They said 'these are the facts, these are the statistics.' They gave us really good information about what her fetal MRI showed and what was going on with her, but still they let us make the decision as far as what types of treatments and interventions we wanted.”

On doctors' honest expectations for Anna and her treatment: 

“They weren’t unrealistic. They gave us the facts. They gave us the same statistics and the medical literature that our local doctors were giving us, but also with the caveat that no one truly knew what was going to happen until she was born.” 

“It felt like we were being treated like she mattered. Even though she is special needs, even though she is not typical, she still matters. She is a person and she matters, and that’s how we were treated at Cincinnati, and I really appreciated that.” 

On how she handles the realities of the condition: 

“As she has lived, and grown and exceeded expectations, I have kind of stopped the ‘IF she makes it a month.’ ‘IF she makes it two months.’ ‘IF she makes it six months.’ I’ve stopped doing that because she has shown us that she is here and she is here to stay.” 

“There will be difficulties, she’s going to need help, for sure, but I’ve stopped, basically, expecting her to die.”

On how Anna is doing now and plans for the future: 

“It’s been a hard year, but also an amazing past year. And Anna is just an absolute blessing.”

“Yesterday I was like, 'Oh, I need to find a Halloween costume for her.' Stuff I never dreamed we would be doing! So I’m careful. I’m cautious. I understand that she’s not going to run around, go to daycare and do kid things like my son has, but that doesn’t mean she can’t live a long time or a good quality of life. She has trisomy 13, but she is living a good life. A good quality of life.”

(Published October 2020)