February 2020

"I was three years old when my sister, Josie, was born. After a year it became clear that she wasn’t reaching milestones that most babies do. Her favorite word was, “eee” which meant anything from she wanted something to a whole story she couldn’t quite communicate. I used to ask, “When will Josie be able to play with me?” My mom had no answer, and now, at age 18, I can only imagine the frustration that question brought.

In second grade, I remember giving a class presentation about Josie’s disease. My mom helped me piece together things doctors had told us so far, but it wasn’t a diagnosis, it was a guess. We wanted answers, but doctors didn’t have them.

When I was about to start middle school and Josie was eight years old my parents applied to the Undiagnosed Diseases Program at NIH. This felt like our last hope, and we were beyond excited when Josie got in. During the week in Washington DC, one of my parents and Josie would go through fifty million tests and exams while the other parent and I went sightseeing around the U.S. capitol. This “vacation” was one of the best family adventures I have ever had! Don’t worry, I did my part by giving blood on my birthday so my DNA could help in the search for a diagnosis.

A couple of months after our visit to NIH, we got a call: Josie had Infantile Neuroaxonal Dystrophy (INAD). Not only did the NIH give us a diagnosis but they also gave us an amazing resource: the NBIA Disorders Association which has connected us with many other families who have gone through similar experiences.

It is extremely difficult to come to terms with the fact that my sister will keep losing abilities, or that currently there is no cure, or that Josie will always require a ton of work. I have changed many of Josie’s diapers, gotten her dressed, fed her, brushed her teeth, helped to get her in her stander, gotten her in pajamas, and cheered her up countless times.

Today, Josie is 15 years old; she can’t crawl, she can’t see, and she speaks at a slow pace. I sometimes wonder how my life might have been different if Josie did not have NBIA. Then I realize that I would never want to give up my perspective of what it is like to have a sister with special needs especially because it would mean missing out on her special abilities. Even though Josie is limited, she has brought so much joy into my life. She is caring, has the best smile, and is always willing to give a hug when I’m having a hard day. She loves to laugh, and her laughter is loud, contagious, and pretty much the epitome of happiness. Josie is one of my best friends. She is the best sister I could have asked for and I love her so much."


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