8 minute read
The Perils of HLH
Cliffhanger After Cliffhanger, a Young Patient Defeats a Rare Disease
Mikey Scott’s life unfolded like an old movie serial. Every Saturday, the hero overcomes danger only to encounter a new predicament as the episode ends. As the credits roll, future scenes flash across the screen: a rare disease, global bone marrow search, international rescue flight, worst winter storm in a decade, race to the emergency department, resuscitation, babbling and smiling.
The perils of Mikey, now 2, began with a difficult pregnancy. “I was hospitalized for a long time. At 26 weeks gestation, they did an ultrasound and noticed that his bowels were dilated,” says Mikey’s mother, Gina Scott. “Every time I went, they found something else. His liver was enlarged. He had ascites (excess abdominal fluid), and then edema on his scalp. They couldn’t figure out what was wrong. They ordered every test under the sun.”
Gina Scott was warned that her son could be born with many challenges. “I thought, ‘As long as he is alive, we will get through it.’”
Mikey arrived prematurely. Dad, Michael Scott, drove quickly to the high-risk pregnancy center at SSM Health St. Mary’s Hospital. “At 4:30 in the morning, we made it from Fenton to St. Mary’s in under 15 minutes,” Gina Scott says.
Mikey weighed 4 pounds, 15 ounces and had jaundice and trouble breathing. “His abdomen was so large. He had an adult-sized liver,” mom says. After 12 days at St. Mary’s, Mikey’s doctors transferred him to a higher level of neonatal intensive care.
Gina Scott had been hospitalized with meningitis at SSM Health Cardinal Glennon Children’s Hospital when she was a child and later spent nine years there as a staff nurse. Now, she was going back again. “We ended up with Dr. Hillman, by the grace of God, who had studied in Cincinnati,” she says.
Noah Hillman, MD, is a SLUCare neonatologist in The Dana Brown Neonatal Intensive Care Unit (NICU) and professor of pediatrics at Saint Louis University School of Medicine. “Mikey came in horribly sick. We didn’t have an explanation. We got him through one really sick period, but he got very sick again. The normal tests came back negative,” Dr. Hillman says.
Tests for uncommon diseases also were negative. “I was thinking, what if this is HLH?” says Dr. Hillman. “It is terribly rare. I only knew about it because I trained at Cincinnati Children’s Hospital, which is one of the major centers in the world for HLH.”
“Children born with this disease don’t have a gene that shuts off inflammation after an infection. Once something triggers it, it continues...”
Dr. Hillman enlisted Deepika Bhatla, MD, a hematologist/ oncologist in The Costas Center who cares for patients with bloodborne diseases. She also trained at Cincinnati Children’s Hospital, where HLH was first described.
In patients afflicted with HLH, histocytes and lymphocytes destroy viruses and bacteria, then continue to attack healthy cells in other tissues and can cause organ failure. Many neonatologists have yet to treat HLH. “Once they have seen it, they don’t forget it, because it can be so devastating,” Dr. Bhatla says. HLH is roughly estimated to affect one in 50,000 children.
“When I started my fellowship in 2004, they knew about two genes, maybe three, for HLH,” Dr. Bhatla says. “Now, we can describe many more genes and their functions and test for them.”
HLH Support says that seven genetic causes of inherited HLH are identified. The current survival rate after treatment is 30-50%. “Specific incidence is unknown,” according to the group.
Mikey had a variety of symptoms that “can mean many things,” Dr. Bhatla says. “HLH is just one disease it could have been.” However, genetic tests showed Mikey did carry HLH genes. Subsequent tests found that both of his parents were carriers of an HLH gene. “My husband researched everything with HLH,” Gina Scott says. “If you try to find people who survived it, you will find…I refused to think about it.”
One Option
“The only cure is a bone marrow transplant to try to give him enough normal cells to stop inflammation,” Dr. Hillman says. “His parents knew he may not survive the transplant, but they knew he wasn’t going to survive if we didn’t do it,” Dr. Bhatla explains.
A bone marrow transplant involves eliminating bloodmaking cells with chemotherapy, transfusing donor cells and waiting for them to engraft, making the immune system unable to fight infections. Mikey’s family and caregivers had to decide where to keep him during this time. “Normally we do the transplants in the bone marrow transplant unit where everything is super-sterile,” Dr. Hillman says.
“The problem was, he was so sick and so small.”
“He was on a ventilator, so there was no way he could come to the transplant unit,” Dr. Bhatla adds. It was decided that Mikey, 4 months old, would be the first patient to undergo chemotherapy and transplant in The Dana Brown NICU at SSM Health Cardinal Glennon.
The Hospital maintenance staff joined Mikey’s care team. They modified two NICU patient rooms, cleaned them to transplant-unit specifications and installed HEPA air filters. “We measured the air in the rooms and picked the cleanest one,” Dr. Hillman says. “Mikey lived there for 100 days.”
The best transplant match for Mikey was found through the World Marrow Donor Association registry. The donor, a 20-something woman in Switzerland, confirmed her willingness to undergo the surgical marrow donation procedure. Medical teams on both sides of the Atlantic Ocean synchronized calendars so the donated marrow would arrive at the peak of Mikey’s conditioning.
Dr. Bhatla gave the NICU nurses an intensive course in transplantation and the safe handling of the toxic chemotherapy drugs. “Doing this in the NICU was the best scenario because we knew Mikey and had developed relationships with his family,” said Tessia Childs, MSN, APRN, NNPPC, a neonatal nurse practitioner. “There was a lot of education. Dr. Bhatla lectured and prepared a binder on the medications and a log of his treatments.”
Now, the Weather
The bone marrow drawn in Switzerland needed to reach St. Louis within 72 hours to remain viable. As a courier and the cells flew to Atlanta en route to St. Louis, the eastern United States was struck by the heaviest winter storm in a decade. On February 2, 2022, airlines cancelled 2,000 flights across the country, including 300 at St. Louis Lambert International Airport. Businesses and schools closed. MetroLink suspended rail service. A transport team waiting for the courier at the airport found that only one flight had been cleared to arrive that afternoon.
“It must have gotten clearance from the FAA, because those cells were on there,” Dr. Hillman says. The transport ambulance traversed icy roads to reach the Hospital. The donor cells were processed and transfused that evening.
The marrow cells engrafted for a time then began to be rejected. Some that remained from the original donation were transfused. The donor was asked to send more.
Eventually, Mikey’s body settled into a combination of his cells and donor cells. “He’s about 20-percent
donor and 80-percent Mikey,” Dr. Hillman says. “He has done quite well. He just needs enough donor cells to stop the attacks.”
During his recovery, Mikey encountered additional complications. “He got past all of them, and we sent him home,” Dr. Bhatla says.
Home…and Back
Mikey continued to recover under sterile conditions at home and received medications to boost his donated marrow. Then, yet another peril arose. One night “he was not acting right. I thought I would bring him to the emergency room,” Gina Scott recounts.
As his father drove speedily to the Hospital, Mikey’s breaths rattled. Reaching The Dan Dierdorf Emergency and Trauma Center, Gina Scott rushed her son into the building. Moments later, he was in cardiopulmonary arrest.
After Mikey was resuscitated and intubated, doctors determined that he had suffered an upper airway obstruction. He was
admitted for a few days, this time in the pediatric intensive care unit. “They took him to surgery and extubated him,” Gina Scott says. “He came off oxygen quickly. Then, he started babbling and smiling.”
“That is where we are now. He is extremely active. He is all boy,” says Gina Scott as Mikey scoots around the house in his wheeled walker. “And he shouldn’t have been born — he is the only known survivor of fetal HLH.” However, she continues, “he is still not out of the woods. He needs to keep a certain amount of donor cells to keep the HLH in remission.”
Mikey is one of the youngest patients to undergo a bone marrow transplant successfully, Dr. Hillman believes. “I would credit the entire NICU team,” Dr. Bhatla says. “If they saw him now, they would be quite surprised. They did an awesome job.”
“Everyone who took care of Mikey in the NICU learned a lot,” Childs says. “His chances were quite slim. It’s satisfying to know that we came together, worked hard and overcame this for Mikey and his family.”
