My son, Bentley, just got diagnosed with ReNU Syndrome.

He is 3.5 years old and we have been searching for an answer from genetics since he was just a few months old. All his doctors would call him a mystery and I had kind of just accepted that he is just “Bentley” and accepted that he will show us who he is. We live in the Dayton, OH area and we get his care at Cincinnati Children’s! He sees a lot of specialists including gastroenterology, neurology, physical medicine and rehab, cardiology, developmental pediatrics, ophthalmology, orthopedics, urology, ENT, genetics, and pulmonology.

From the time I was pregnant with him, there were what I now know were little signs of ReNU. At my 20-week ultrasound, they discovered a VSD, microcephaly and dilated kidneys so they watched him closely the rest of my pregnancy. He was born at 39 weeks and stayed just one additional day in the hospital for poor feeding. His VSD closed before birth, but kidneys remained dilated until just recently. When he was born, I kept asking about why his thumbs were tucked into his palms, which all doctors brushed off as normal. They were tight at first but with massaging and bracing have loosened up a lot and he will use them functionally sometimes.

He had torticollis and plagiocephaly as a baby, so he wore a helmet for 4-5 months to correct his head shape. He was a pretty “floppy” little guy for at least the first year. He has been in PT and OT since around 4 months and started speech therapy around 1.5 years old. We are working towards using an AAC device currently since he is nonverbal as of now. He was delayed on holding his head up (around 6 months), sitting up on his own (around 1 year but still wobbly), crawling (23 months), currently working on standing and walking!

Bentley had a Microarray, Karyotype, and a whole exome sequence which were all negative before he was a year old. We did a whole genome sequence in April 2024, still nothing. In late 2024, Boston Children’s sent out information about ReNU syndrome which prompted Bentley’s genetics doctor to have the genetic scientists reanalyze his data and look for the RNU4-2 gene and, he was positive! We got our diagnosis March 2025 at 3.5 years old!

I always wondered if it was something I did wrong during pregnancy or if there was birth trauma that I didn’t know about or if it was because I had Covid-19 in my first trimester (around the time of conception) that caused his cerebral palsy but now I know it was ReNU all along!

He has a slew of characteristics that fit with ReNU: microcephaly, increased ventricle sizes in his brain, thin corpus callosum, bicuspid aortic valve, constipation, reflux, failure to thrive, poor feeding, aspirates thin liquid, G-tube dependent, coxa valga (at risk for hip dysplasia), has already had his first fracture at 3.5 years old (wrist), wears AFO braces, had a febrile seizure two weeks ago (first seizure ever), nystagmus a few times when he was a baby, developmental delay, CVI, cerebral palsy, and nonverbal.

He also has a happy demeanor, loves the wind, loves playing with water, loves to clap, and is very affectionate. He has a 6-year-old sister that he adores and loves to laugh and play with.

He has many GI issues as well. He took bottles as a baby until he was 1 and then just completely refused. He has reflux and also got an NG tube around 10 months, followed by a G-tube was placed at 14 months. He had always been low in weight, usually not even on the growth chart. He’s had a NG, G-tube, NJ-tube, GJ-tube, and most recently had to get a PICC line for TPN to help him catch up in weight because he just isn’t growing.

Additionally, he had lip, tongue, and buccal ties that have all been revised, has obstructive sleep apnea requiring oxygen at night, loves being upside down (hanging his head off his nuggets couch or laying in my lap with his head back), and he also has dimples on most of his joints.

Bentley has been such a light in our lives; through all the hard medical stuff, hospital admissions and unknowns, he’s a trooper with a smile on his face which makes it all easier!

I’m so excited that we finally found an answer after 3.5 years of wondering “why” and can’t wait for more research and developments to come out!