Written on Jun 2, 2021 10:33:42 AM
Join Lowman Law Firm in Supporting CHAMP 1 Disorder Research
As your hometown legal team in Hernando county, Lowman Law Firm is dedicated to supporting local causes and organizations. One organization working to make a difference both locally and globally that is near and dear to our hearts is the CHAMP1 Research Foundation. The foundation’s mission is to improve the lives of children and families impacted by CHAMP1 disorders through clinical research, effective treatments, public awareness, early detection, family support, and patient advocacy. An upcoming CHAMP1 Charity Golf Outing is just one of the ways the foundation raises funds to support its goals.
What is a CHAMP1 Disorder?
CHAMP1 is short for Chromosome Alignment Maintaining Phosphoprotein. This extremely rare genetic disease, which was just discovered in 2015, is caused by a mutation of the CHAMP1 gene (known as Haploinsufficiency).
Children with the disease have a CHAMP1 protein below the 50% necessary for proper neurological function and development. Depending on protein level, children with CHAMP1 will have varying levels of functionality and a variety of different symptoms, the most common being developmental delay or Intellectual disability, as well as severe speech delay or loss. You can find other FAQs about CHAMP1 here.
About the CHAMP1 Research Foundation
The CHAMP1 Research Foundation is an organization created for parents of children with developmental delay, hypotonia, cerebral palsy, autism, and epilepsy, and other diagnoses resulting from a change of the CHAMP1 gene.
The foundation coordinates and collaborates with the global scientific community to understand the function of the CHAMP1 gene in order to develop effective treatments and ultimately a cure for CHAMP1 disorders. The foundation also strives to increase awareness of the disease within the medical community and the public at large, and to provide educational and emotional support for those affected by CHAMP1 disorders.
When Jeff D’Angelo, the Founder of CHAMP1 Research Foundation and a proud CHAMP Dad, welcomed his son “JJ” into the world, he and his wife quickly realized he was “different” as he struggled to keep up with his peers. Looking for answers, the couple pushed for genetic testing which eventually uncovered that JJ was 1 of 38 children in the world with the rare CHAMP1 genetic disorder.
In disbelief, Jeff called at least a hundred specialists. Many were unfamiliar with CHAMP1, and those who were familiar with the CHAMP1 gene would tell him, “there is no treatment, there is nothing we can do, good luck.”
“I felt discouraged, worried, and angry,” writes Jeff on the foundation’s website. “There was no one fighting or advocating for CHAMP1 kids affected with this life-altering condition.” But JJ is a fighter. “[He is] 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.”
This story of perseverance, along with the stories of other families impacted by CHAMP1 we found online, inspired us at Lowman Law Firm to join the fight!
CHAMP1 Charity Golf Outing
One way the CHAMP1 Research Foundation raises awareness and funds to support its cause is through local events, such as this weekend’s CHAMP1 Charity Golf Outing. Tee-off is at 9 am on Saturday, June 5 2021 at the Hernando Oaks Golf & Country Club. This year’s tournament is already sold out with all 100 tee times having filled up fast. That’s good news for the foundation, but not so good news for others wanting to hit the links in support of the event! So, be sure to keep it on your radar for next year.
In the meantime, please join the team at Lowman Law Firm in the fight and consider contributing to the cause. The efforts of the CHAMP1 Research Foundation would not be possible without the caring support of our community! You can fundraise or donate on the foundation’s website right now!