Newborn’s rare diagnosis echoes father’s past

By Maureen Gilmer, Riley Children’s Health senior writer, mgilmer1@iuhealth.org

When Derrick Keener looks at his newborn son, Brooks, he can’t help but think back to his own childhood, or at least the stories his parents have told him about the time he was a Riley kid.

As baby Brooks lay in a NICU bed at Riley Hospital for Children recently, Keener shared how his son’s journey was a bit like his own start in life.

Thirty years ago, at just 5 days old, Derrick Keener was rushed to a Lafayette, Indiana, hospital when his big sister noticed he was having trouble breathing.

He was air-lifted to Riley, where he was diagnosed with chylothorax, a type of pleural effusion, a rare but serious condition in which fluid builds up between the layers of tissue that line the lungs and chest cavity. It could have been fatal, but the Riley team used a procedure called thoracentesis over several months to drain the fluid and give his lungs and heart time to heal.

Three decades later, Keener and his wife, Allison, of Lafayette were stunned to hear that the baby Allison was carrying was suffering from pleural effusion that resulted in hydrops, a serious condition where fluid builds up in many areas of the unborn child’s body.

Allison, a nurse at IU Health Arnett Hospital in Lafayette, knew something wasn’t right about this pregnancy. Already the mother of a 2-year-old, she had some basis for comparison.

But even she was surprised when at a 30-week appointment, she was measuring as if she were 35 weeks’ pregnant. An ultrasound revealed excessive fluid not just in the baby’s chest cavity around his lungs (pleural effusion), but also in his abdomen and skin tissue (hydrops).

That’s when the Keeners were sent down to Riley and connected with the maternal-fetal medicine team, including Dr. Erin Cleary, MFM specialist.

“Dr. Cleary was amazing,” Allison said. “They did an echocardiogram on him (the baby), and his heart was perfect.”

That was good news, but it was in conversations with Derrick that doctors began to see a possible connection between what dad suffered as an infant and what was happening with baby Brooks in the womb.

The MFM team immediately consulted Dr. Hiba Mustafa, director of fetal surgery for Riley. A thorough assessment was done, including ultrasound, echocardiogram and temporary drainage of fluid in the chest to determine the most likely reason for hydrops.

The team determined based on imaging and testing results that hydrops mostly resulted from primary pleural effusion. They decided to proceed with the placement of chest shunts (tiny flexible tubes) in the baby’s chest to drain the fluid out of the chest cavity and into the surrounding amniotic fluid while the baby was still in utero.

While the procedure has risks, including pre-term labor, not doing it was riskier and potentially fatal for the baby.

All of this happened so quickly that the Keeners were equal parts overwhelmed and impressed.

“When we got here, they were working so fast,” Derrick said, recalling how he was talking by phone with his mom about his own experience as an infant and sharing that information with the medical team.

“They were putting all those pieces together in real time,” Allison agreed. “We kept telling ourselves we’ve never seen a hospital move so quickly.”

The fetal surgery team drained an astounding 3 liters of excess amniotic fluid off of Allison before placing the chest shunts.

“She was a champ,” Dr. Mustafa said of Allison during the shunt surgery. “She watched the entire procedure. Not many people can do that.”

“For my nurse brain, it helped my anxiety,” Allison said. “I had an epidural, they set a screen up, and I’m watching, like, what are we doing now? For my mom brain, it was kind of hard, but it still helped me.”

The weekly follow-up ultrasounds showed resolution of both the pleural effusion and the hydrops, and a plan was made for Allison to deliver vaginally near term.

At the end of January, she delivered 8-pound, 3-ounce Brooks at Riley at just under 37 weeks. Both shunts were still intact after delivery. They were removed, and baby Brooks was taken to the NICU.

After a 17-day stay, Brooks is now home in Lafayette with his family, free of any respiratory support, and he only requires a low-fat, low-lipid, high-calorie formula to help his digestion.

“He is so content,” Allison said. “He doesn’t really let all of this bother him.”

The family underwent genetic testing to get answers, and a gene passed from father to son was discovered – the results coming three days before Brooks was born.

The genetic condition that affects Brooks, Milroy disease caused by a genetic mutation in the FLT4 gene, is so rare that there are only a handful of cases reported in medical literature worldwide, according to Dr. Kristen Suhrie, director of perinatal genetics at Riley.

"The Riley NICU cares for many newborns with rare genetic diseases, so while any one genetic disorder that affects patients is rare, we see many different rare diseases that affect many different patients," she said. "So much so, that we say rare genetic disease is common in the NICU."

“The genetics counselor said they’d never seen this passed from parent to child,” Derrick said, adding that the couple’s daughter did not suffer the same condition. “Apparently, it’s a 50-50 chance that we would pass it on.”

Victoria J. Thomas is an advanced practice provider with Riley’s Perinatal Genetics team. Before genomic testing, she said, infants with a buildup of lymph fluids in the body and similar disorders had prolonged hospitalizations due to delayed diagnosis.

In Brooks’ case, she said, prenatal testing and early identification of Brooks' gene mutation allowed the NICU team to “provide timely, individualized management and specialized care.”

“We are pleased that Brooks and his family received answers and were able to discharge home safely and timely,” she said.

While the shared condition between father and son is rare, Dr. Mustafa said, early identification and treatment made a big difference, and she credits Dr. Cleary and the MFM team for looping in the fetal surgery team from the beginning.

“She got the ball rolling. She had good knowledge that we could do something. Not every case of hydrops is hopeless. That’s how many people perceive it, but we try to educate that there are types of hydrops, particularly with pleural effusion, that can be helped by placing shunts, and that’s the case here. We expect Brooks to continue to do well,” the surgeon said.

"Brooks was able to undergo prenatal treatments for his disorder by our maternal fetal medicine doctors that were lifesaving," Dr. Suhrie added. "He was then able to be born right here at Riley so our neonatology team could continue targeted treatments for his disorder because we knew the exact genetic cause for his symptoms."

While many patients with symptoms of genetic disease may never receive a genetic answer or may undergo a “diagnostic odyssey” of years before the genetic cause is discovered, genomic testing, prenatally or shortly after birth, is allowing doctors to make a diagnosis early, Dr. Suhrie said.

"Here at Riley, we are grateful to have the opportunity to care for patients like Brooks that are affected by genetic disease," she said. "We can’t thank his parents enough for trusting us with his care."

As the Keeners settle in at home, they are grateful for their family of four and glad to have the flurry of activity surrounding Brooks’ diagnosis and treatment mostly behind them.

“We feel amazing about the care at Riley,” Allison said. “I think that if he wouldn’t have had the shunts, he wouldn’t be here, or he would have had a much longer NICU stay.”

Photos by Mike Dickbernd, mdickbernd@iuhealth.org, and Maureen Gilmer, mgilmer1@iuhealth.org