For the first few months of Arianna Condon’s life, everything was moving along fine. She was a happy baby, and seemed to be developing much like her older sister, Tessa.
“She was gaining weight, and seemed to be doing great,” says Arianna’s mom, Marina. “She did have problems with reflux, but it was nothing too unusual for a baby.”
But by the time Arianna was 3 months old, Marina started to have concerns. Arianna wasn’t lifting her head the way Tessa had at that age. Something didn’t seem right.
“I brought it up to her pediatrician, but she told me that all babies develop differently and there wasn’t a cause for concern at that time.”
At 5 months, Arianna still couldn’t lift her head, and had developed some other unusual symptoms. Marina noticed she used her belly to breathe and her muscles seemed weak and floppy. A different pediatrician at a follow-up visit shared Marina’s concerns and suggested they make an appointment with the Department of Neurology at Boston Children’s Hospital.
A difficult diagnosis
At the appointment, the neurologist did an assessment and ordered an electromyography (EMG) test, which is an electrical testing of the nerves and muscles. The results weren’t encouraging. They suspected spinal muscular atrophy (SMA), a rare genetic condition that causes weak muscles throughout the body. Infants diagnosed with SMA usually have type I, the most severe form. Many children with type I do not live past 2 years.
The diagnosis needed to be confirmed with a genetic test, which would take two to four weeks.
“We had never heard of SMA,” says Marina. “But while we waited for the results, we went online and started reading about it and all of her symptoms started matching up. She was using her belly to breathe, she had reflux and she couldn’t create a productive cough.”
A few weeks later, on Oct. 31, 2016, the family got a call saying the diagnosis was confirmed. They were scheduled for a visit to the Boston Children’s SMA Clinic the next week, where they met with Dr. Basil Darras, director of the Spinal Muscular Atrophy Program.
An offer of hope
Although the SMA diagnosis was devastating, Darras offered them hope. A new clinical trial for a drug to treat SMA, called Spinraza, had been so successful that researchers like Darras at Boston Children’s and elsewhere had stopped the trial early. The FDA was allowing eligible patients to start the drug under an expanded access program, but it would be a few weeks before the program began. Passionate about this program, Darras spent many hours of his own time bringing it to Boston Children’s and having it approved.
The timing was a stroke of luck, but waiting wasn’t easy. The study results had shown that the sooner babies started the medication, the better their results.
Thankfully, the call from the Boston Children’s SMA team came a few weeks later, and Arianna received her first dose of Spinraza the day after Thanksgiving 2016.
Arianna has been receiving treatment for about a year now — and the results have been amazing.
“She’s slowly gaining strength, and can now hold her head up and move it from side to side,” says Marina. “Before she would just follow me with her eyes.”
Arianna is also starting to sit up and can balance herself for a few seconds. These are huge gains for a child with type I SMA.
“Dr. Darras has been great,” says Marina. “He’s very conservative with giving us expectations because the treatment is still brand new. But he’s very hopeful and he thinks she’ll continue to progress.”
Arianna will continue to get Spinraza for the rest of her life. She still needs respiratory support, so she sleeps with a bilevel positive airway pressure (BiPAP) machine and works with a physical therapist to build her muscle strength. Meanwhile, her parents are thrilled to see her slow but steady improvement.
“We’re very thankful for the whole team of doctors at Boston Children’s,” says Marina. “They have put in so much work for this treatment. We really appreciate all they’ve done for Arianna.”
She hopes the next step is to make SMA testing a part of all newborn screenings. “Now that they have a treatment that’s working, I think it’s important to test for it right away, especially since the sooner they start the medication, the better kids do.”
Learn more about our Spinal Muscular Atrophy Program.