Rare Condition Does Not Stop Woman’s Dream of Becoming a Mother

Sandy Pineda knows the grief of losing a child, but she doesn’t let her personal pain stop her from helping other women bring babies into the world. As a certified nurse midwife, she shares great joy with her patients, but she’s also called upon to face her grief afresh whenever one of her pregnant moms loses a baby unexpectedly.

Her first daughter, Yesenia, was born 13 years ago and lived 29 days. The grief is still sharp today, bringing Pineda to tears as she tells her story of losing Yesenia to an extremely rare condition called neonatal hemochromatosis (NH)

“At 32 weeks along, I had a nagging feeling that something was off. I’d go to work and listen to her on the Doppler to reassure myself,” says Pineda. “One day, my blood pressure was borderline, and I asked my doctor for labs and an ultrasound. It snowballed from there.”

Tests revealed that Yesenia’s abdomen was enlarged with fluid, and doctors at Pineda’s local hospital in San Jose, California, diagnosed hydrops—when fluid accumulates in several compartments of the fetus’s body, causing severe swelling. The fluid buildup in the placenta backed up and caused mirror syndrome in Pineda in the form of preeclampsia—life-threatening high blood pressure during pregnancy—and Yesenia needed to be delivered immediately. After birth, Yesenia was rushed to the Neonatal Intensive Care Unit (NICU), where she lived out her short life.

“My husband, Luis, and I were grateful to see her alive, but it was also really hard. On her last day, she went into respiratory distress. We held her, and she passed away in our arms,” Pineda says.

Neonatal hemochromatosis, one in a million

Pineda’s local doctors suspected NH—something they’d never seen before—but Yesenia had a normal liver enzyme test, which wasn’t consistent with the diagnosis. NH is an extremely rare condition that damages the liver of a developing fetus. Abnormal amounts of iron accumulate in the liver and injure it, sometimes destroying it completely.

“When NH is severe, the fetus’s liver is in profound failure right from the get-go at birth, and the baby’s health rapidly deteriorates. Some babies can be saved by liver transplant,” says William Berquist, MD, a pediatric gastroenterologist at Stanford Children’s Health.

Pineda used her medical know-how and resources to investigate further. She came across studies by Peter Whitington, MD, a primary NH researcher, now retired from Lurie Children’s Hospital of Chicago. She emailed him, and he wrote back immediately, asking for tissue samples and records. He verified that Yesenia had developed NH as a result of gestational alloimmune liver disease (GALD).

“Researchers estimate that a vast majority of cases of NH are linked to GALD,” Dr. Berquist says.  

With GALD and other alloimmune responses, the mother’s body perceives a part of her fetus’s liver as foreign. Her body then creates antibodies that attack the liver, causing liver damage.

“I requested an autopsy, and it revealed that Yesenia’s liver had been completely destroyed. That’s why her liver function tests came back normal. There simply wasn’t anything to measure,” Pineda says.

“Although NH is rare, I also think it’s underdiagnosed. Sandy really advocated for herself. It was her perseverance that drove her to find out what went wrong during her pregnancy with Yesenia,” says Natali Aziz, MD, maternal-fetal medicine specialist and director of Perinatal Infectious Diseases at Stanford Children’s Health, who cared for Pineda in her following two pregnancies. “Few people know about NH, and I hope our center can raise awareness about this condition so that more families and physicians may seek evaluation for NH when liver failure is suspected in fetal demise or infant death.”

Looking back, Pineda credits her experience with making her a better midwife. She has turned her immense loss into something positive. She reminds moms who lose a baby that they are not alone, and she urges women to speak up if they have a feeling that something’s off during their pregnancy.

“I also advise moms whose babies pass away late in pregnancy or soon after delivery to get an autopsy to investigate the cause. It’s hard in the moment, but in the long run it can be really important. If doctors know that it’s NH, they can prevent it in the next pregnancy,” Pineda says.

Hope through prenatal treatments for future pregnancies

Pineda’s story doesn’t end there. She went on to have two healthy babies, Max, 11, and Rubi, 8, at Stanford Children’s Health.

Once a woman has a fetus who develops GALD that leads to NH, she has an approximately 90% chance of the same outcome with subsequent pregnancies. Fortunately, GALD can be treated with intravenous immunoglobulin (IVIG) during pregnancy. IVIG infusions start around 14 weeks and continue weekly until delivery, giving babies a nearly 100% chance of being born without NH complications.

“Dr. Aziz was a fellow at the same hospital I worked at when I was a new midwife, and I remembered that she was all heart. When I learned she was at Stanford Children’s, I reached out. She was just great. She said we’d figure it out together, and she was there by my side the whole time,” Pineda says. “We all held our breath because Max was only the 75th baby to receive IVIG treatment for NH in the whole world.”

Even though the IVIG treatments demanded that Pineda sit in the Infusion Center for six to eight hours a day once a week, she didn’t mind. She knew it was giving her a chance at being a mother.

“I’d wake up and say, ‘It’s an IVIG day!’ I thought of IVIG as putting liquid gold into my body,” she says.

Finding a fetal center to help

NH is so rare that many obstetricians never see a case in their whole career. Few major hospitals have helped women who have lost a fetus to NH to go on to have healthy babies. That’s why it’s important for moms who have lost a fetus or newborn to unexplained liver failure to find a fetal center for treatment, especially one that can help determine if the loss was due to NH.

“While IVIG treatments are not unique to us, Stanford Children’s Health is the right place to treat NH because we have the continuum of care within our Fetal and Pregnancy Health Program to address every need an expectant mom, fetus, or newborn baby might have,” says Alexis Davis, MD. “Our maternal-fetal medicine experts partner with pediatric gastroenterologists, and neonatologists to provide the very best care available for NH.”

The Stanford Children’s Health team is happy to co-manage care with referring doctors around the nation and world. Most full-service infusion centers can administer IVIG. Raising awareness about NH and IVIG treatment is a collective goal for the hospital.

“One of the biggest joys in my career has been experiencing successful IVIG treatment with Sandy and Luis. It was a privilege to help provide new memories of healthy pregnancy and birth to balance out their past memories of loss,” Dr. Aziz says.

Sandy and Luis couldn’t bring themselves to prep for Max’s arrival, just in case the infusions didn’t work. They didn’t have a single diaper or pacifier in their house. Yet none of that mattered when Max was born healthy, weighing 9 pounds 3 ounces at 38 weeks.

“That day is so clear in my memory. We both just started crying. We couldn’t believe we had this healthy baby. That was the day we came back to the world of the living,” Sandy recalls.

Then, they had a second healthy baby, Rubi. Rubi was IVIG baby No. 139 in the world for NH, and she made their family complete. Sandy and Luis were so grateful for Dr. Aziz’s willingness to help that they included her name, Natali, on their short list of names for Rubi.

Sandy says her kids are helping to heal her wound. She tells them that they are here because of Yesenia.

“Yesenia gave us the knowledge we needed to save her brother and sister,” she concludes. “It’s such a tremendous gift to have them.”

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