Our son, Ethan, was diagnosed with peroxisomal biogenesis disorder - zellweger spectrum disorder (PBD-ZSD), a very rare genetic disease, when he was just four weeks old. There is no cure for PBD-ZSD and treatment is symptomatic. This is our PBD-ZSD journey.
PBD-ZSD affects every child differently. In the first year of Ethan's life, when he was meeting a few of his gross milestones not all that far behind schedule we hoped and prayed that Ethan would end up developing the skills and abilities that would put him on the milder end of the spectrum of the disease. However, as he continued to fall further and further behind, develop additional health challenges, and faced multiple setbacks it became clear that Ethan's symptoms (or ability level) place him somewhere closer to the middle of the spectrum of severity for PBD-ZSD.
Ethan will be 6 in July and while we are thrilled to say that Ethan can walk short distances independently, his balance and endurance continue to be a major issue. Since the return of the seizures late this past Fall, we have been fighting hard to keep the mobility that he has fought so hard to achieve.
One of the things that Ethan has been working on for months, both at school and at outpatient PT is riding an adaptive bike (tricycle). In the last few weeks Ethan has seemed to really be catching on to the process and he seems to enjoy going fast!