From Despair to Hope: How Trisomy Families Are Reaching Out to Children’s – AND CHILDREN’S IS REACHING BACK

“It’s like you’re on a sinking ship, and you’re throwing your child to a stranger and saying, ‘Save my baby.’ It seemed like that. It felt like a hand reached out and just pulled us up… At the time, I didn’t know what an advocate for children with trisomy 18 Dr. Hammel was; I just knew he was someone who said, ‘Yes.'”

That ‘yes’ saved a fragile, young life, and restored a California couple’s hope in humanity.

“If you’re a trisomy 18 parent, if you look into full intervention, you know you’re going to hit a lot of obstacles and a lot of discrimination,” says mother Meredith Willard. “The doctors we were working with in California told us this isn’t life-compatible and that we could meet with the comfort care team … She wasn’t seen as a baby that was going to live.”

Rose Willard will celebrate her first birthday on February 5. Mellow and sweet — a star cuddler — she is a joy to her parents and four brothers at home. But life will never be easy for Rose — a reality that became apparent when Meredith was 12 weeks pregnant.

“After a sonogram, one of the technicians said, ‘Something’s not right,” Meredith recalls. “They said, ‘Your baby doesn’t have trisomy 21, which is Down syndrome.’ I said, ‘Oh, great.’ They said, ‘This is way worse.”

Rose was diagnosed with trisomy 18, a life-threatening chromosomal condition that batters patient and family with a torrent of challenges, including congenital heart defects, severe physical and mental developmental delays, hernias and feeding and breathing problems. The most common form, full trisomy 18, is linked to a third 18th chromosome — one more than normal — in all of the baby’s cells.

“The message the families get is almost uniformly fatalistic,” says James Hammel, M.D., division chief of Cardiothoracic Surgery at Children’s Hospital & Medical Center.

That was the case for the Willards. Told their baby, most likely, would not survive the pregnancy, “I said “There’s a heartbeat and she’s here, let’s let her be,” Meredith says. “When I said I wasn’t going to terminate, there really was no more help for me there. I went weeks with no one.”

The Willards eventually shifted their care to a health care provider in Moreno Valley, Calif.

“He said, ‘She’ll live through pregnancy and she’ll survive birth, but she will need heart surgery.’ So, from there, I started searching for a heart surgeon.”

More frustration and anger followed, denial after denial, as the Willards inquired at several California hospitals about the possibility of heart surgery. “You’re angry, but it fuels you,” Meredith says. “You know that kids are treated. We just wanted that for our kid.”

Through their affiliation with SOFT — Support Organization for Trisomy 18, 13 and Related Disorders — the Willards caught wind of a potential option 1,500 miles away.

“That Children’s in Omaha said they would operate on Rose just restored our hope in people,” Meredith says.

To Dr. Hammel, it’s just not that complicated.

“Most physicians view this as a hopeless diagnosis — but there is always hope. Yes, these kids have functional limitations, but there is plenty of room to make their life better … I’ve always said if I can improve a child’s chance of survival from five percent to 10 percent, I’m perfectly happy to take that on if that’s what the parents want to do.”

Trisomy 18, which impacts roughly one in every 5,000 babies, is the second most common type of trisomy syndrome after trisomy 21 and before trisomy 13. Within the last year, a growing number of trisomy 18 and 13 families, from coast-to-coast, have been self-referring to Children’s.

“I think the social media awareness of our willingness to take them — instead of throwing them all into a basket of fatality — resulted in people seeking us out from a long distance,” says Dr. Hammel, who spoke at SOFT’s 32nd annual conference, which was held in Omaha last summer.

“We’re enabled to do it because of the desire to work together and make sure we’re collaborative. It’s our culture.”

Meaghann Shaw Weaver, M.D., M.P.H. Division Chief of Palliative Care

Young trisomy 18 patients from California, Iowa, Indiana, Kansas, Tennessee, Michigan, Illinois, and Virginia have all come to Children’s for heart surgeries. Eager to care for them is a collaborative, multidisciplinary team, including Dr. Hammel; Robert Cusick, M.D., division chief of Pediatric Surgery; ENT specialist Ryan Sewell, M.D., cardiologist Howard Hsu, M.D.; neonatologist Nicole Birge, M.D.; and Meaghann Shaw Weaver, M.D., M.P.H., division chief of Palliative Care.

“When there’s a baby with trisomy coming, you can easily get 10 subspecialists at the table,” Dr. Weaver says. “We’re enabled to do it because of the desire to work together and make sure we’re collaborative. It’s our culture.”

Dr. Hammel credits Dr. Weaver with “taking this from a surgery program to a more holistic family program.”

When those trisomy 18 families arrive at Children’s, Dr. Weaver says they are typically in fight-or-flight mode: “They’re used to their room being a traumatic setting, and our intention is that they feel really cared for as a family – not just medically. I try for the first note in the chart to be, ‘This is the family’s goal. This is their understanding. These are their hopes, and this is how we can come together as a hospital to foster that.’ It’s deeply family-driven.”

Rose underwent her life-saving heart surgery in March after being airlifted to Omaha by medical transport. Willard, who equates her previous quest for care to a horror movie, says it was a bit surreal: “Going to Omaha, we were treated the most normal you could be treated with such a medically fragile child. It was like nothing fazed them, nothing scared them. They’re like, “No worries – we’ve got this, Mom. Go get a coffee.”

That’s a crucial point: Dr. Hammel says for the most part, these are fairly standard procedures — nothing extraordinary from the standpoint of risk or invasiveness. “These are things that would be absolutely obligatory for a child without trisomy,” he explains.

“Half of the kids with trisomy 18 have a ventricular septal defect (VSD – a hole in the heart), which is bread and butter. Most of the rest have defects where reconstruction can result in a normally functioning heart … If a family didn’t want surgery for an infant with a VSD or tetralogy or even pulmonary atresia, we would take them to court, take the child out of the family and take care of them.”

And still, as Meredith pursued heart surgery for Rose in California she says, “I had some doctors shaking their heads and telling me I was cruel. You have hospice and palliative care – let this child go.’ And I’m saying, ‘no.”

Dr. Weaver links this obstinacy to a lingering and outdated perception that, for babies born with trisomy 18, death is inevitable: “If you look at the old textbooks, and a lot of them are still being used, the outcome is death. It was one of the few diagnoses that was named lethal.”

It is a self-fulfilling prophecy, says Dr. Hammel: if trisomy 18 children don’t receive proper care, they will die. If they do, they can live a significant amount of time. Seventy to eighty percent of trisomy 18 babies survive cardiac surgery. Dr. Hammel says 50 percent of those children will be alive 16 years later.

“People refer to it as being unethical to operate. I think that’s an example of doctors being confused about who’s investing in the child,” he says. “Whose pain and suffering is it? Whose stress? Whose risk? Who’s really investing in the case? It’s the family.”

Rose was born with a number of heart defects, including a double outlet right ventricle, and tetralogy of Fallot, which encompassed a VSD. Immediately after surgery, serious episodes of apnea — a cessation of breathing — were no longer an issue.

Meredith recalls, “At the hospital we were at, they kept telling me, ‘She has Tri-18; her body is not meant to survive.’ I said, ‘It’s because of her heart.’ When Dr. Hammel repaired her heart, she never had one more episode of apnea. We flew home commercial with her on no oxygen … and I was told this child could never even live outside the hospital.”

Almost a year after surgery, life is still a challenge for Rose and her family. She receives her nutrition through a feeding tube that was placed in California after her heart surgery. She is on two heart medications and medication for seizures, which are under control. A couple of days each week, she attends a dizzying number of clinic appointments: cardiology, neurology, physical therapy, audiology and more.

“We are definitely a medical family,” Meredith says.

But Rose is here — and smiling — and mom says she is wonderful: “Her brothers don’t have a huge issue with how different she is — they just see their sister.”

Dr. Weaver says Children’s approach to trisomy families is an embodiment of its mission to improve the life of every child. Dr. Hammel sees it as an opportunity to provide desperately needed care to families who are challenged to the max: “In the end, we will be judged by how we treat the most vulnerable people in our society.”

From his yes’ that restored the Willards’ hope in humanity sprang another hope — a mother’s hope that her daughter can develop into her best self: “I’m super excited to see what she can do and explore and experience. I was told this kid wasn’t a survivor. I knew she was.”

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