For as long as they can remember, Zinnia, 13, and Lainee, 12, have done everything together. Born in China to separate families, the girls were both diagnosed with a genetic blood disorder called beta thalassemia, which causes severe anemia, poor growth, bone deformities and damage to organs if untreated. The two were orphaned at a young age and bonded during monthly blood transfusions to treat the disorder.
When Laura and Chris Jones of Wheaton visited the girls’ orphanage in hopes of adoption, they could not bear the thought of separating Zinnia and Lainee. They began a long and arduous process of adopting both girls, making a family of 10.
When Zinnia and Lainee were six and five, respectively, they began to see Dr. Alexis Thompson, Head of Hematology at Lurie Children’s, and a pioneer in the treatment of the blood disorder.
After years of treating the girls with frequent blood transfusions, Dr. Thompson told their parents that she was leading a new gene therapy clinical trial for thalassemia, one that uses the patient’s own stem cells to treat the blood disorder, eliminating the need for regular transfusions. The results of the study made headlines worldwide. Using gene therapy, 15 of 22 adolescent and adult patients achieved transfusion-free status, while others required transfusions less frequently. Hopeful for a cure, the family agreed to participate, and enrolled Zinnia in the same treatment protocol that was used in the trial. Now Lainee is receiving the same gene therapy treatment that her sister has benefited from.
Because the conditioning and chemotherapy regimen for the stem cell transplant is known to impact fertility, the family elected to have one of Zinnia’s ovaries surgically removed and frozen, in the hopes of preserving her future fertility.
While Dr. Thompson’s research has transformed Zinnia and Lainee’s lives, their mom, Laura knows they are just among the first to benefit from this breakthrough.
“We are part of something bigger that’s happening for patients all around the world,” she says.
Sometimes life’s most difficult moments are lightened by unexpected good fortune. For the parents of Taylor Peterson, the devastating diagnosis of spinal muscular atrophy (SMA), an incurable neuromuscular disease, arrived almost simultaneous with the news that the first effective treatment for SMA had received FDA approval that very week. And the first hospital in the United States to offer the treatment? Lurie Children’s.
Taylor’s parents had been concerned when she started showing decreased muscle function around eight months of age. An energetic crawler, she had already started trying to pull herself up but over the course of a few months began losing the ability to do the things she’d already learned to do. Taylor’s mother is a physical therapist and had worked with children with SMA in the past. After noticing Taylor’s symptoms, she recognized that an SMA diagnosis was a possibility and brought Taylor to a neurologist. A blood test confirmed the difficult diagnosis.
Spinal muscular atrophy is a genetic disorder characterized by gradually increasing difficulty with sitting up, walking, feeding and breathing. The earlier the age of onset, the greater the impact on motor function. Children who display symptoms at birth or in infancy, like Taylor, typically have the lowest level of functioning and the lowest life expectancy. With no form of medical therapy that changed survival or function, families had to face a slow, progressive loss of function.
Taylor began receiving the new treatment via lumbar puncture and saw the effects almost immediately. The progression of the disease slowed, then halted, and her parents soon saw her regaining functions she had lost and even reaching some new developmental milestones. Using her pink walker, Taylor now scoots around the playground energetically, keeping pace with her friends and seeing no limits to what she can do.
Lurie Children’s was very involved in the clinical research program for the new treatment, and was the largest site in the U.S. for the clinical trial that proved its effectiveness. Additionally, researchers at the Stanley Manne Children’s Research Institute have investigated neuromuscular disorders for years, seeking to understand the underlying causes so that new treatments could be developed. The Children’s Research Fund has supported research into neuromuscular disorders and clinical research.
“To see these children now not only regain function they had lost but also reach new milestones is mind-blowing,” says Nancy Kuntz, MD, Medical Director of the Mazza Foundation Neuromuscular Program at Lurie Children’s. “There are so many parents of children with similar disorders who are hopeful that the same principles can be applied to help their child’s disorders. There are bright scientist working on this. We just need a reliable stream of resources and funding, and the advances won’t stop.”
Karter was diagnosed as a baby with choroid plexus carcinoma, a rare and aggressive form of brain tumor that grows in the ventricles of the brain. He underwent two surgeries at Lurie Children’s to remove the baseball-sized tumor, but neurosurgeons were unable to remove all of the cancerous cells. Ultimately, Karter received 30 rounds of chemotherapy using two separate drug protocols. Unfortunately, neither of them were effective in completely destroying the remaining cells.
Now, Karter and his family, which includes his twin brother and best friend Khristian, have new hope. He is enrolled in a new Phase II clinical trial of the drug Nivulomab. Using a precision medicine approach, his neuro-oncology team hopes the drug will prompt Karter’s immune system to produce T-cells that will, in turn, target his remaining cancer cells.
Nivulomab has been used successfully in treating adults with other forms of cancer, but has only recently begun evaluation as an immunotherapy drug for brain tumors. Karter will receive infusions of the drug every two weeks and will undergo weekly lab work to monitor him for any complications.
“Despite all the rounds of toxic chemicals that have been pumped into his system, Karter has been amazingly resilient,” says his mom, Alyssa. “I can’t say we’re exactly looking forward to being back at the hospital every week, but if this therapy is the key to Karter’s longevity, we’re all in.”
“Precision medicine is the wave of the future; it’s the next-generation standard of care,” says Stewart Goldman, MD, Head of the Center for Cancer and Blood Disorders at Lurie Children’s, whose research is conducted through the Stanley Manne Children’s Research Institute. “By combining everything currently known about a disease with everything currently known about an individual child, including their genetic code, precision medicine is offering hope of a breakthrough in the treatment of cancer.”
Jen was thrilled to give birth to a healthy baby boy in 2011. But as the weeks went on, she was worried that her newborn son’s Nate coloring was just not quite right. At five weeks old, doctors at Children’s Memorial Hospital (now Ann & Robert H. Lurie Children’s Hospital of Chicago) performed a biopsy on Nate’s liver and concluded that he had biliary atresia, a life-threatening condition in which a blockage forms in the tubes that carry bile from the liver to the gallbladder.
Doctors attempted to save Nate’s liver surgically. But when his health declined six months later, he was put on the organ donation list for a new liver in June 2012.
That September, Jen got the call that would change their lives. “My best friend Laurie called me to say, ‘I’m a match!’ Nate was inpatient at the time, and I just started crying in the room. The nurses and fellows were there with me, asking what was going on, and when I told them they started crying, too.”
In October 2012, surgeons at Lurie Children’s removed Nate’s liver and transplanted a part of Laurie’s liver. Last fall, his family, friends and caregivers at Lurie Children’s celebrated the five-year anniversary of his transplant with a special party that raised funds and awareness for organ donation. According to Jen, the staff who has cared for Nate are like family.
“Dr. Mohammad is Nate’s primary attending physician,” she said. “He was in the room the night we found out he had biliary atresia, and it means so much to have someone who’s been with us since day one all the way through now and is still there for him many different ways.”
Over the past few years, Nate’s family and clinicians at Lurie Children’s have worked closely together to manage his health and prevent complications. “Dr. Mohammad and his team take my intuition and my knowledge of my son to heart when they make their decisions. They’ve done their job in getting to know us clinically, but also personally.”
Advocating for pediatric research and parental support
Medical research played played an important role in Nate’s journey as a way to create healthier futures for other children with biliary atresia. “When Nate was diagnosed, one of the clinic research nurses asked if we wanted to be a part of research on the condition and we were like, ‘Absolutely.’ With biliary atresia, a breakthrough is not going to happen overnight. Even if it doesn’t help our son right now, it can help somebody else. Even just an answer of why it happens is one step in the right direction.”
As an organizer of an online support group for parents of children with liver diseases at Lurie Children’s, Jen has also become a vocal advocate for families. She is currently serving on the parent council for a mobile app designed by a Johns-Hopkins pediatrician called Liverspace that connects parents to useful information about liver disease, enables them to graph labs and meet up with other people within the liver disease, and more.
‘You really can’t say thank you enough’
This year, Nate started kindergarten—a milestone Jen said she feared she would never get to see as his mother. Since his transplant, he’s also become a big brother to his younger sister Allyson, now 3, who Jen describes as one of his closest friends. “She’ll come with when we take him to appointments and she comforts him. She’ll say, ‘If you don’t cry, you’ll give them good numbers and your rhythm will be happy!’”
Today, Laurie and Jen remain close, and Nate is beginning to understand the magnitude of Laurie’s gift.
“At first he thought Dr. Mohammad bought his liver at Target,” Jen said, laughing. “But now he’s really starting to piece things together and understand he has a piece of her for the rest of his life. It’s just amazing. You really can’t say thank you enough.”