Who We Are
The CHAMP1 Foundation is an organization created for parents of children with developmental delay, hypotonia, cerebral palsy, autism, and epilepsy among many other diagnoses a result of a change in the CHAMP1 gene.
Our mission is to improve the lives of those affected by CHAMP1 through clinical research, effective treatments, public awareness, early detection, family support and patient advocacy.
To coordinate and collaborate with the global scientific community to understand the function of the CHAMP1 gene in order to develop effective treatments and a cure for CHAMP1 disorders.
To increase the medical community and public awareness of the complexity and potential severity of CHAMP1 disorders.
To provide educational and emotional support for those affected by CHAMP1 disorders.
Rare Disease Week
CHAMP1 Awareness Day
Making the Impossible Happen
The excitement I felt to see my best friend I had been waiting for was indescribable but, I was also extremely nervous to parent a small child as I still felt like one myself. From the moment I saw my son and held him in my arms I knew my life had changed in more ways than one.
The expectations I had of fatherhood and the life I envisioned with my son suddenly took a left turn. 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 work extra hard with him the gap would close. “He will catch up”, was one of my favorite lines. In desperation for answers we pushed several times for genetic testing to discover we hit the lottery and our boy “JJ” was 1 of 38 in the world with a rare genetic disorder, CHAMP1.
It took several weeks to get over the disbelief. You’re basically given a paper and left to you own devices. I called at least a hundred specialists, but my efforts left me feeling more isolated and surreal. The scientists 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 discouraged, worried, and angry.
This journey has been filled with tears, anxiety, and a transformation of a life I never anticipated. I have spent countless nights frustrated and fatigued.
With all the challenges we’ve faced, JJ is 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 process, 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!
Proud CHAMP Dad