Zachary is an amazing young man who enjoys family and friends. He enjoys being involved with school and participants in the sports programs. This past year he was the freshman assistant football coach, the basketball team manager and now an assistant coach for freshman baseball team. Zach was recently diagnosed with CMT Type 6, a rare form of CMT. This diagnosis came after a life time of countless visits to ophthalmologists, neurologists and orthopedics. Zach is legally blind with a vision of 20/400 and suffers from Optic Nerve Hypoplasia. We have spent a lifetime traveling from specialist to specialist and not one even considered CMT as a diagnosis. It wasn’t until a year ago that Zach’s pediatrician suggested this disease was a possibility. I had never heard of CMT and once we researched it and found out what it was, we were devastated. Further doctor visits to a geneticist were suggested and it was recommended that genetic testing be performed. Exon Genome sequencing is a diagnostic test that had recently become available that helps identify the basis of rare and unusual genetic disorders. Genetic testing was able to provide the answers to a lifetime of questions that were left unanswered and undiagnosed. What’s so amazing is that this disease was discovered over 100 years ago and there is still no cure. Please consider joining or donating to Zach’s Team at http://hnf.donorpages.com/ZachsTeam/ and help us fund research.
Join us on September 9th in Victor, NY for a Scavenger Hunt to help raise funds for CMT 6 research.
When Debi’s son Zach was first diagnosed with CMT Type 6 in 2014, after 14 years of doctors trying to figure it out, she couldn’t believe there was a disease out there that no one has ever heard of. How could this be? After researching on the internet, which didn’t...
Hereditary optic neuropathies are genetic disorders that cause vision loss. Those affected may also experience cardiac or neurological abnormalities. Currently, there are no effective treatments or cures for these inherited diseases. Optic neuropathy is one of the...
We have two choices in this world. We can sit back and do nothing, allowing this disease to happen, or we can go out and fight to make a difference.
Throughout my life many different people have impacted my views on certain things, whether it be how I speak, how I dress, what I eat or even who I’m friends with. I now consider my viewpoint on life much more mature and sophisticated than it was 10 years ago or even 5 years ago. I think more logically than ever before and I am much wiser now because of my mistakes and because of my success. Recently in my life I met another person who greatly impacted my life.