A frequent problem with for rare disease patients worldwide is being correctly diagnosed. Prior to the diagnosis you won’t know the proper treatments, you don’t know why you’re experiencing your symptoms, and sadly, people question the legitimacy of your symptoms.
You know what you’re feeling, it’s your body after all, and you wish you were feeling something different and people still might attribute an illness with a character flaw.
That was initially the case for a very little girl named Lexi. As a baby, her symptoms were dismissed at first. As Lexi continued to grow, however, she continued to miss milestones and her parents and then her doctors knew that something was physically wrong. Lexi wasn’t crawling.
Lexi was diagnosed with type 2 spinal muscular atrophy (SMA) as a toddler.
The relief of a diagnosis however, was immediately followed by worry. Her parents were told that Lexi would eventually be immobile and wouldn’t be able to breathe. She would slowly lose her ability to sit up and she would never walk.
Thankfully hope was on the horizon. Lexi started a drug called nusinersen in a double-blind trial, and that chance has made all the difference. Now four years old, she can walk with a walker. The family is feeling positive about the future, and little Lexi is signed up for dance classes!