Welcome! Collin is our son and we are located in South Carolina. At a routine 28 week ultrasound, we learned Collin would have a clubfoot. At birth, that was the only indication that something may be wrong. After the intense part of the clubfoot treatment came to a close around 6 months old, we noticed that Collin’s eyes were bouncing around and that he held his head in a chin down position when he sat up. At this point, he was also starting to fall behind on his developmental milestones. We were quickly referred to several specialists and, with a normal MRI of his brain and initial genetic testing finding nothing abnormal, we were told to wait and see.
Collin continued to grow and develop, although remaining delayed on his milestones. He didn’t sit up assisted until around 10 months old, he was well over a year old before he crawled, and he did not take his first unassisted steps until almost 2.5 years old. His speech was delayed and his fine motor control was a struggle.
At 2, we moved from our hometown in Louisiana to South Carolina. A new set of specialists was an opportunity for us to begin to question how much testing we would want to do to find an answer. We ran several more basic genetic tests and labs, and also completed a second MRI of his brain and spine…all with normal results.
By age 4, at a yearly geneticist visit our doctor brought up whole exome sequencing. A year and a half later, we were finally able to have this test drawn. The results revealed three different variants, but one stuck out to our geneticist as the likely cause of Collin’s symptoms. This was the mutation on the DAGLA gene. With this information we applied for the Undiagnosed Diseases Network and were accepted to the Duke University site. In August 2019 we visited Duke for a week of testing and appointments. It was there that we found out there were three other people with a similar mutation and symptoms. At the conclusion of that visit to Duke, we left with the hope that we were on our way to a diagnosis for Collin. In June 2022, the study was published and Collin’s diagnosis of NODRS became official.
Collin continues to struggle with balance and coordination, but is walking independently and uses assistive technology at school for lack of fine motor function. He still experiences an occasional fall, but he hops right back up and continues what he was doing! He continues to impress us with all that he has and does accomplish each day! He LOVES to play and watch soccer, play his Nintendo and anything related to Pokémon. We are so proud of Collin and hope that we can use his story to give some hope to new patients diagnosed with NODRS and any patient still looking for a diagnosis.
DAGLA gene & NODRS Family 