James was born December 2, 2022, in Wichita Falls, TX.

He is our first kiddo, and like all new parents, we knew very little of what to expect. He was born 4lbs, 15.5oz at 37.5 weeks. My pregnancy was completely normal except for less weight gain than anticipated and a small amount of fluid on one of his kidneys detected on an ultrasound. He had a near perfect delivery at a birth center, and we were able to take him home about five hours after his birth. He seemed so little and fragile and was already our biggest blessing.

A few days after he was born, he started having difficulty feeding. He would get so tired, so we syringe fed him, and within a week had started him on a bottle. Three weeks into his life, he struggled to maintain his weight and started projectile vomiting. He’d struggled with reflux since day one, but we knew something was wrong that first Christmas Eve. He got his first helicopter ride that night to Oklahoma University Children's Hospital. They couldn’t tell us why he was vomiting, but they discovered elevated liver enzymes. We stayed a few nights in the hospital and discharged home with a new feeding plan and a follow-up with Duke GI for when we moved back to NC just a few short weeks later.

We started noticing developmental delays around the third month. He didn’t seem to be doing “normal” baby things and was quite floppy. We would always tell people he was born really small, so he was probably just playing catchup. By his 6-month visit, he was still borderline failure to thrive, and his head was measuring small as well. At his 9-month appointment, he was referred for PT/OT/speech. As we started introducing solid foods, he started to have severe constipation. He wasn’t interested in touching foods and only seemed ready for purees. We worked for months to figure out a diet and medication regimen that would keep him gaining weight, while controlling his constipation. It took about 8 months, and around 15 months old he started taking off developmentally. It was around this same time that we received approval for genetic testing.

James seems to be fairly high functioning and does not have all of the typical characteristics or challenges of ReNU Syndrome. Early on, we were told by many well-intentioned doctors and people that perhaps he just needed more social interaction, or a little extra time to catch up. While a part of us hoped for that to be true, a bigger part of us was relieved that there was a physical reason for the challenges he has faced since birth.

We are so grateful for the doctors who advocated for James to have testing and additional support, so that we can help him develop as much as possible in these early years, and to help him live the fullest life possible. Having such a supportive community of ReNU parents who have faced many of the same challenges, and having hope for a cure in the future has been amazing.

Developmental Timeline:

• 9 months: can sit up with assistance, unstable

• 11 months: sits up by self

• 13 months: crawls for the first time

• 14 months: pulled to stand by self

• 18 months: takes first steps

• 23 months: walking primarily. Waves for the first time. Plays conversational games. Says “mama” consistently. Can learn what other words mean (dada, grandpa, sleep time)

• 26 months: practicing walking up stairs with assistance, kicking ball with encouragement, brings fork with food on it to mouth (cannot put food on fork), uses hands to pick up food and eat, pushes away what he doesn’t want, high pitched sound for wants something or is tired, can sometimes climb onto couch independently.

• 29 months: attempting to run. Beginning to show interest in potty training.

James loves to play in water, swing, throw grass and rocks, wrestle, and listen to his parents sing. He would be outside 24/7, if possible, as long as the temperature stays between 70-80 degrees.

He is a joy to be around and is nearly always giggling. Our biggest prayer for him is that he would be able to speak words to communicate, but regardless of if he is able to attain this, we are confident he will continue to find other ways to interact with the world around him.

We have so much hope for his future, and the future of all ReNU kiddos.