Jeff D’Angelo’s Story Shortly after the birth of our son JJ it was clear there were some complications and we knew JJ was different. We went to every specialist across the country and tried every therapy under the sun. It wasn’t until he was 4 years old, we discovered he was 1 of 37 kids

The Road to Diagnosis: Jump Into Genetics Let me just tell you something. You never sit through a high school science class thinking that you’ll someday have a child who requires extensive genetic testing. If I had known, trust me, I would have paid a lot more attention. At this point in our journey I could

I will never forget the day my son was born; I was so excited to meet my best friend. Little did I know what was ahead, and there is nothing I could have done to prepare me for what the future had in store for my family.

Jeff D’Angelo shares his personal journey as a father and advocate for families affected by an alteration of the chromosome alignment-maintaining phosphoprotein 1 gene (CHAMP1). RMF’s Bernie Siegel supports Jeff in his mission to increase scientific and public awareness, funding and support for this rare and minimally understood diagnosis. Jeff and his wife founded the

When they first discover their child is suffering from a genetic condition many parents turn to the internet for knowledge and to connect with families going through the same experience. Full story here

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,

Like many in rare disease, Jeff D’Angelo is in a race against time to find a treatment for his son JJ. This sense of urgency led to the formation of the Champ 1 Foundation, who are driving clinical research with the laser focused mission to improve lives of those affected by Champ 1 gene disorders.

Motivated by a desire to make a difference to his son’s life, and the lives of others with the same condition, Jeff D’Angelo co-founded The CHAMP1 Research Foundation. He talks to RARE Revolution about his drive to accelerate research and about his hopes of achieving the ultimate goal of a treatment. Full story here

She’s been attending training camp and games since she was little, and now that she has a daughter of her own, the Richmond resident has been taking her to camp in their own backyard. However, she’s using the opportunity for more than just a chance to watch football. Full story here

New screening helps find diagnosis for Arkansas girl with rare genetic mutation. Maebel’s version of playing, Shelly said, usually involves her standing still, watching other kids interact. In one video of a sleepover with her friends, she bounced on a bed with them, holding hands and giggling for a few seconds before moving off to