COLORADO SPRINGS, Colorado (KUSA) – From the moment their feet hit the ground, there’s no stopping kids on the go. But for one little girl in Colorado Springs, living with a neuromuscular disease made the ability to walk nearly impossible. That is, until recently thanks to a correct medical diagnosis and a promising new drug.
Nearly two years ago, doctors at Children’s hospital Colorado diagnosed Lexi Pacini with type 2 Spinal muscular atrophy (SMA) – a genetic disease that impacts part of the nervous system that control muscles movements. The diagnosis came months after Lexi’s parents noticed she wasn’t sitting up, crawling or standing like other toddlers her age.
“At first, we felt relieved because we finally learned what was wrong, but then we realized there was no cure,” said Tammy Pacini, “But our saving grace was, the day Lexi was diagnosed with SMA, we were told that there was a drug trial that Lexi probably qualified for.”
After passing the proper screening and tests, neurologist Dr. Julie Parsons enrolled Lexi in a new clinical drug trial called Spinraza. It’s the first of its kind drug to specifically treat all types of SMA that was just approved by the FDA on December 23rd.
“It’s an amazingly exciting time in neurology to have identified a diagnosis, and the treatment, to improve the lives of our kids,” said Dr. Parsons, “And Lexi has been responding very well.”
When Lexi first began the clinical drug trial nearly 18 months ago, she was only about to stand for 7 seconds, unassisted. About six months later, Lexi was able to take 20 steps all by herself. Now she is standing, walking some, and even climbing.
“It was amazing to see how quickly she improved and how much stronger she got,” said Pacini, “It would be great to see her, one day, not need her walker or walking sticks at all.”
But for now, Dr. Parsons and Lexi’s family are just grateful the drug is working. As for Lexi, she’s just happy to have some mobility and a little independence.
“She’s already in dance class.. and she loves it,” said Pacini.
(© 2017 KUSA)