Our amazing son, Sam, was diagnosed with a Peroxisome Biogenesis Disorder in the Zellweger Spectrum of Disorders in November 2002 at 4 1/2 months of age.
At that time, we were told that he would be deaf, blind, mentally retarded, physically disabled, and likely wouldn’t live beyond the toddler years. Our research led us to several specialists that shared the same bleak news.
This July, Sam will be ten years old. He acquired abilities and skills beyond what others projected. In November 2008, he was diagnosed with Acute Lymphoblastic Leukemia — completely unrelated to his PBD diagnosis. He is the only child known to have PBD and any type of cancer.
At first, it seemed like Sam would get through his 3 1/2 years of treatment for leukemia with no effects. Sadly, after a year, we started noticing changes in Sam’s physical abilities. The skill we worked so hard to attain — walking — was becoming difficult for him.
Over the last year, Sam has gone from having independent mobility to total dependence. He has lost the use of his right hand (hemiparesis), has neuropathy in his feet, cannot balance on his own, and can no longer straighten his legs. The neurological effects of his disorder are taking a toll on our son. There is no treatment or cure for PBDs, and, eventually, it will be his demise.
Sam has an amazing spirit and attitude. Despite his regression, he is happy, expressive, and capable in so many other ways. It is our hope that increased awareness for ultra-rare diseases, like Sam’s, will bring attention and funding to discover ways to help children like Sam.