“What happens is her blood cells kind of get caught in her kidneys and they’re not broken down the right way,” says Lacee Gengenbacher, describing how she understands one of her daughter Adeline’s diseases, thrombotic microangiopathy (TMA), a treatable condition associated with bone marrow transplantation. “Her immune system was attacking her kidneys.”
Adeline's cancer treatment
It all started in fall 2015, when doctors at their home in Montana found a softball-sized tumor in Adeline’s chest; they immediately flew her to Children’s Hospital Colorado for cancer treatment. Adeline endured resection surgery, chemotherapy, radiation and a bone marrow transplant, and then developed idiopathic pneumonia syndrome (IPS), which physicians treated with steroids.
Though her blood pressure was elevated, her physicians assumed it was from the steroids, which they expected she’d come off of once her IPS resolved. The cancer now gone and the IPS under control, they sent her home (to their temporary home in Denver) on July 13, 2016.
Not three weeks later, Adeline went unconscious and began seizing. She was rushed back to Children’s Colorado. They scanned her head and found “massive amounts of fluid in her brain,” her father, Derek Gengenbacher, remembers.
A new, life-saving diagnosis
Initially, physicians thought it was malignant and that Adeline would not survive. But just before caregivers began preparing the Gengenbachers for the worst, they discovered that the fluid was not malignant, but was instead posterior reversible encephalopathy syndrome, or PRES, an indication of high blood pressure. That’s when pediatric nephrologist Danielle Soranno, MD, — who was consulted to try to resolve the high blood pressure — found that Adeline’s kidney function was at about 30%. That, combined with the PRES and several other factors, led her to diagnose Adeline with TMA.
“I think there was a general sense when we were discharged in July 2016 that there was still something lurking out there that we didn’t know anything about,” Lacee says. “Everyone was right — it was TMA.”
A complication of bone marrow transplant, TMA causes inflammation, which creates rough and irregular linings in the blood vessels in the kidney. Red blood cells get caught in that irregular and rough environment, and they break apart, instead of carrying oxygen to the kidneys and other organs as they’re supposed to.
A multidisciplinary treatment plan that beat the odds
A few days after the TMA diagnosis, the Gengenbachers met Jens Goebel, MD, pediatric nephrologist and Medical Director of Kidney Transplantation at Children’s Colorado. He recommended a new treatment plan for Adeline that included furosemide and weekly infusions of the drug eculizumab. He and Dr. Soranno worked quickly to get Adeline approved for the eculizumab, which was flown to Denver less than 24 hours later.
“Adeline was very sick in the pediatric ICU with her TMA, which historically has a substantial mortality risk,” Dr. Goebel said. “And the drug is very, very expensive, so the stakes were very high both in terms of time and cost.”
The drug infusions helped immediately by attenuating the inflammation in the blood vessels, and the Gengenbachers were discharged a few weeks later.
“If we hadn’t met Drs. Soranno and Goebel, we wouldn’t be here right now,” Lacee says. “I don’t think anyone thought we would be here. Adeline’s beaten the odds at every turn.”
A long-term outlook for recovery
Now 3 years old, Adeline lies on her side while receiving her weekly outpatient infusions at Children’s Colorado to keep the IPS and TMA at bay. She watches Top Gun on her mom’s phone while her little brother squirms next to her. She is a spirited, extroverted child who loves to sing and dance, and loves Star Wars, Derek and Lacee explain. She calls her surgery chest scar her “light saber scar.”
She has finished her cancer treatments, and the family is waiting for Adeline to be healthy enough for post-treatment scans to determine that there's no evidence of a tumor. Adeline will likely be on the TMA medication for the next six to 18 months. Though she’ll have permanent kidney damage, she should be able to manage it through lifelong medication and a healthy lifestyle.
“Her kidneys will never recover fully,” Lacee says. “One of our fears is, ‘What will this look like for the long-term?’ Then we remind ourselves: Anything is better than not having a long-term.”