We’re still trying to find out!
If you were to meet Scott today, you would immediately see that he is a friendly person with a big smile. But you’d also notice that he has a significant hearing loss, trouble speaking clearly, muscle atrophy of his left hand and arm, scoliosis (curvature of the back), weakness in his left foot and leg, an awkward gait, and impaired balance and coordination. Other symptoms—vision issues, breathing problems, and general fatigue—would not be apparent, but affect him just as much.
You might assume from Scott’s physical symptoms that his cognitive abilities are impaired as well. Fortunately, that’s not the case. Scott is a super-smart person!
Other than a mild-moderate hearing loss identified at the age of 3, Scott’s childhood was normal and carefree. He was strong and active, spending most of his free time outside playing with friends. No one suspected that he would become ill as a young teen with a mysterious condition that would severely limit his physical abilities.
The symptoms began in the fall of 2008 when he was 13. Scott’s physical health deteriorated over several months. Multiple doctors and dozens of tests could not pinpoint the problem. His doctors, we (his family), and Scott himself thought the deterioration would continue and he would die. Those were extremely difficult times. After several months of deterioration, his condition plateaued in March 2009, followed by small improvements. Again, his doctors could find no cause.
What we do know is that Scott has a neuromuscular disorder of unknown origin, although he’s received many possible diagnoses over the years. Most recently, we met with a metabolic doctor who thinks Scott has a mitochondrial disorder. In 2012, his neurologist, then at Children’s Hospital in Pittsburgh and now at Children’s Hospital in Philadelphia, identified a motor neuron disease called BVVL (Brown-Vialetto-Van Laere) as a possibility. Both are extremely rare. Scott has tested negative for the known BVVL genes; other genetic testing has been inconclusive. We will continue to work with doctors and researchers at various medical facilities in the U.S. and abroad to find the cause of his symptoms and, hopefully, a treatment and maybe, someday, a cure.
Despite his medical issues, Scott was able to continue to attend his local school and graduated from high school in June of 2013. He is currently attending college, majoring in software engineering.
Life can be challenging for Scott and his family. We’re grateful to his doctors and medical caregivers as well as family, friends, neighbors, teachers, and volunteers who have expressed interest in him and who have offered support in so many ways. We’ll keep the site updated with new information, so please stop back.
Thank you!
C.K. (Scott’s mom)
