It didn’t take long for Jeff and Katis D’Angelo to realize that something was up with JJ, their newborn son. The biggest indicator that something was off was that the youngster didn’t cry. Initially, the boy was diagnosed with cerebral palsy. JJ failed to reach essentially all of his earliest developmental milestones. Despite the diagnosis, Jeff and Katis were concerned that something more was going on and pushed for JJ to undergo whole exome sequencing, a type of genetic test. On April 10, 2018, four year old JJ received a new diagnosis: CHAMP1 disorder. Seeing his son struggle made Jeff feel helpless.
About CHAMP1 Disorder
CHAMP1 stands for chromosome alignment-maintaining phosphoprotein1. In people with CHAMP1 disorder, this gene is mutated. The disease was first described in 2015 and there hasn’t been much research conducted on it at all; less than 100 cases of the disease have been documented, making CHAMP1 disorders one of the rarest of rare diseases. In most cases, mutation is believed to appear spontaneously and is rarely inherited from parents. No two patients appear to be affected identically, but some of the most common symptoms include intellectual disability, behaviors similar to autism, difficulty feeding, dental abnormalities, cyclic vomiting syndrome, brain abnormalities, incontinence, vision problems, and seizures. There is unfortunately no known disease-altering treatment or cure for CHAMP1 disorder, meaning that treatment is supportive and based on addressing symptoms; however, speech therapy, physical therapy, and occupational therapy can be beneficial if implemented early in the patient’s life. To learn more about CHAMP1 disorder, click here.
Searching for Answers
Jeff and Katis searched frantically to learn all they could about CHAMP1, but it didn’t take long for them to realize that there was very little information available about the disorder: they were on their own.
“I was on the phone for weeks. Every researcher and scientist that we called hadn’t even heard of it.” – Jeff
They eventually found a support group on Facebook of affected families and learned that JJ was the 37th known patient. Jeff was able to get in touch with some of the mere handful of scientists that had conducted research on the rare disease.
It was clear that if any progress was going to be made, Jeff was going to have to get the momentum going; this is what led him and Katis to found the CHAMP1 Research Foundation. The couple eventually received some research proposals from several scientists, and since then the main activity of the organization has centered around fundraising for research. Last year, the foundation also hosted a gathering for patients in which they donated blood samples that would go towards research.
Like many other nonprofit groups, the COVID-19 pandemic has had a strong negative effect on the CHAMP1 Research Foundation’s activities:
“Scientists can’t get into their labs…there’s a lot of restrictions. It halted progress completely. ” – Jeff
The pandemic forced them to cancel in-person events and has caused significant delays with research; in addition, access to treatment for JJ and other patients has become more difficult.
Despite the challenges, the foundation is continuing to do its best to create a path forward for the development of a treatment or cure for CHAMP1 disorder.
Check out the CHAMP1 Research Foundation website here.
Watch this video to learn more about JJ’s story.