The expectations I had of fatherhood and the life I envisioned with my son drastically and suddenly turned. My wife and I knew our son was different, as each month passed the gap grew wider between him and his peers. I started to fear time. We thought if we worked extra hard with him the gap would close. “He will catch up”, was one of my most common lines. In desperation for answers we pushed several times for genetic testing to discover we hit the lottery and our son “JJ” was 1 of 38 kids in the world with a rare genetic disorder called CHAMP1.
It took several weeks to get over the disbelief. We were basically given a paper and left to our own devices. I remember calling at least a hundred specialists, but my efforts left me feeling more isolated and surreal. The scientists that I were able to connect with, who were aware of the CHAMP1 gene, gave a similar response, “there is no treatment, there is nothing we can do, good luck”. I felt full of discouragement, worry and anger.
This journey has been filled with tears, anxiety, and a transformation of a life I never anticipated. I have and continue to spend countless nights frustrated and fatigued.
With all the challenges we’ve faced, JJ is still the biggest blessing and purpose for my life. My wife and I take nothing for granted, a step, a word, a new skill. I try to live in the moment. I have patience and compassion I never had in my former life. My comfort zone has been pushed aside and I do whatever is necessary to fight for my son, for the best quality of life possible.
There was no one fighting or advocating for CHAMP1 kids affected with this life altering condition. Even with the odds stacked against us, my son is a fighter, a true CHAMP1ON! It’s ingrained in his DNA. I have no choice but to give all that is in me to fight for him. This ends only one way, a cure. By working with the experts to accelerate the science, we will discover a treatment that has an impact on the lives of children struggling with CHAMP1.
Partner with us, help make the impossible happen, join the fight!
