We will be participating in our 4th BCH Walk this year in support of our son Ben! Ben has been followed by BCH since birth. This past year we received a genetic diagnosis of a rare genetic disorder called Cohen Syndrome. His geneticist so compassionately explained all of this in the setting of a new pregnancy.
This diagnosis helps us best understand Ben and his future. He is truly our Powerball Kid. Worldwide there is a 1 in 7.5 million odds of having Cohen Syndrome. We are the lucky ones! I won’t sugarcoat that it’s easy, but it’s rewarding to be Ben’s parents and it has given us tremendous perspective.
Ben continues to be followed by Cardiology, Developmental Pediatrician, Hematology, Opthamalothy, Physical Therapy, Orthopedics, Augmentative Communication and Neurology. We are so grateful for the comprehensive care he's received these past 4 years.
In addition to being the most joyful kid around town, Ben has also advocated on a local and state level for enacting a Rare Disease Advisory Council in NH. We testified at the State House to both the House and the Senate. Ben charmed all the legislators and the bill was officially signed into law last week!
If you'd like to join our team, we will be doing the 2 mile walk with a meet up at Cheers afterwards!
Thank you for all the continued love and support! Stephanie, Matt, and Ben