Beyond Spinal Muscular Atrophy: Fifi’s Story Posted on May 18, 2023 Eight-year-old Fifi is, in her mom’s words, a “firestorm of positivity.” Every day, she rises to the challenges of her rare disease with determination, kindness, and a knack for brightening even the darkest days. Through a clinical trial that recently concluded at Connecticut Children’s, Fifi is also part of history. Every four months for the past seven years, Fifi and her family have been making the long drive from Virginia to Connecticut to help researchers study an investigational drug for her disease. Together, they’ve made a revolutionary treatment available to lots of other kids — and with that treatment, hope. It started right around her 1st birthday. Fifi missed some developmental milestones, which led to genetic testing, which led to the diagnosis: spinal muscular atrophy (SMA)… Want more inspirational stories about pediatric care beyond imagination? Sign up for our newsletter. Subscribe What is spinal muscular atrophy (SMA)? SMA is a rare neuromuscular disorder that affects the motor neurons and, over time, weakens muscles. About one in every 6,000 babies is born with SMA. In 2015, there was no treatment for Fifi. The doctors broke the news to Fifi’s parents, Georgia and Aaron. Fifi, who has Type 2 SMA, would probably never be able to stand or walk. Over time, she could lose the ability to use her upper body. Eventually, she could need breathing support. With no medicine to slow any of this, they would mainly focus on keeping her as comfortable as possible, for as long as possible. “We felt helpless,” says Georgia. Clinical trials for spinal muscular atrophy Then Aaron began scouring ClinicalTrials.gov. One day, a research study showed up in Connecticut: An investigational medicine was being tested for SMA. Connecticut Children’s had earned four of the highly coveted spots across the U.S., and one was still open. “There was a huge buzz going around the SMA community about this trial,” says Hendriana Nielsen, RD, RN, Connecticut Children’s Clinical Research nurse manager. Aaron and Georgia rushed to apply, and Fifi was selected. Fifi, around the time she was selected for the spinal muscular atrophy clinical trial at Connecticut Children’s. “Getting accepted in the trial was a ray of hope in the darkest period of our lives,” says Aaron. Still, they worried. What would a clinical trial even look like? How would they fit the trips to Connecticut into their lives, their 1-year-old daughter strapped in a car seat for 6-plus hours each way? They had barely gotten the hang of being new parents. They were still raw from the diagnosis. “I was so scared in the beginning,” says Georgia. “But once we got there, we became this one huge team with Connecticut Children’s.” Connecticut Children’s helped them navigate Fifi’s diagnosis, from emotional support to clinical insights. They bent over backwards to make the travel as easy as possible, helping with hotel arrangements and expenses. When Georgia called Hendriana from a parking lot off the Jersey turnpike, cleaning up a carsick incident and worried about the time, Hendriana offered a steady stream of reassurance. The week after a treatment, they would always get back on the phone, Hendriana checking in on Fifi. “We had gone to a lot of doctors by then. At other places, we felt like a number,” says Georgia. “As soon as we got to Connecticut Children’s, we could tell: They care. From day one, it felt like a family.” The treatments that we all benefit from today exist because of clinical trials. Without the rigorous work of research teams — and the dedication of the patients and families who participate — the life-changing medications, devices and therapies we often take for granted would never reach us, or our loved ones. “Clinical trial work is where the origin of medicine starts,” says Hendriana. Fifi, Mom, Dad and her siblings enjoying life to the fullest. Fifi’s journey with Connecticut Children’s led to the first FDA-approved therapy to treat spinal muscular atrophy (SMA) At Connecticut Children’s, Fifi’s first clinical trial lasted about two years, leading to FDA approval of the drug SPINRAZA® — life-altering news for kids and adults with SMA. That rolled into another five-year trial to study its long-term effects. Fifi and her family completed that too, diligently visiting Connecticut Children’s every four months. With every visit, Fifi had a number of tests: a blood draw, sometimes an electrocardiogram of her heart, often an evaluation with a physical therapist or cognitive specialist. Then she’d receive the medicine (or a placebo) through spinal tap, injected in her back under sedation. This process was expertly guided by the Radiology team and the Sedation Services team, named New England’s first and only Center of Excellence by the National Society of Pediatric Sedation. “The nurses down in Sedation were amazing,” says Georgia. “They’d literally come in dancing and singing Disney songs, just to make Fifi smile, to make her feel as calm as possible.” All this was bookended with time with Gyula Acsadi, MD, PhD, professor and director of the MDA Care Center and division head of Neurology. Fifi grew close with him and Hendriana: “Dr. Acsadi is very gentle and he’s very kind. He smiles more than all my other doctors,” Fifi says. “Hendriana is my friend and she’s so sweet. She loves my family too.” Over those seven years, the team watched Fifi grow from a chatty toddler to a determined, cheerful second grader. They celebrated as she became a big sister once and then twice over. They encouraged Georgia and Aaron through the joyful exhaustion of their growing family. All the while, they completed the demanding requirements of the study. “The thing I’m most impressed with is the consistency,” says Aaron. “We were at Connecticut Children’s for over seven years, and every time, it was this high-performance team where everybody’s doing their part — giving you not only great medical care, but a great experience. It’s not just the technical of applying the medicine. It’s having people that you count on.” Fifi and Hendriana, during one her Fifi’s visits to Connecticut Children’s. A heartfelt goodbye and a hopeful future The last clinical trial concluded in April, bringing Fifi’s visits to Connecticut Children’s to an end. “That last visit was a tearjerker. There were hugs all around,” says Hendriana. Over more than seven years, Fifi contributed to important knowledge about SMA, and helped make a groundbreaking medication available to other kids and adults who need it. In return, participating in the study transformed her future. “The early access to this medication has halted the progression of Fifi’s disease and even more, helped her get stronger,” says Dr. Acsadi. Today, Fifi uses a manual wheelchair to get around, and with a walker, can even stand and take a few steps. She’s still able to breathe on her own, without assistance. So far, she’s only needed one surgery. With a bit of resourcefulness, she finds ways to participate in all her friends’ activities, whether that’s in the classroom or on the playground — and she’s often the first to make sure other kids feel included too. In fact, she’s earned a reputation as a natural leader: Her nickname at school is “the mayor.” Fifi and her younger siblings, reflecting on how far Fifi has come today. When Georgia and Aaron reflect on where Fifi is today, compared to the early expectations for her diagnosis, it’s beyond imagination. “This medicine changed the course of her life completely,” says Georgia. “She’s doing things we never thought would be possible.” And, along with the Connecticut Children’s Clinical Trials team, she’s helping other kids do the same.