15 Dec Jessica Eddings
2025 was a big year for our family. For the previous 5 years, we were navigating an undiagnosed journey with our youngest child, Isla. Isla received many diagnoses in her first 2 months of life: microcephaly, hypotonia, global developmental delay, cortical visual impairment, all pointing to an underlying genetic disorder. Within 6 weeks of her birth, she had her first imaging, a brain CT. Instead of finding answers, it led to more imaging, blood tests, and lots of questions.
The next 5 years were full of therapy appointments, specialist visits, genetic testing, and labs. All leading us to the same conclusion: Isla has an undiagnosed genetic condition, and we just had to wait for science to catch up with her.
Just before Isla turned 5, I decided to try one more avenue and reached out to the Undiagnosed Diseases Network (UDN). Their amazing team walked us through the process. We submitted all of her records, completed all the forms, and waited. My husband and I went into this with very low expectations. Ideally, we thought, at least we’ll have Isla’s data in a larger database. Maybe down the road, it will lead to someone else’s diagnosis.
However, within a few months, we received a call from Jill Mokry, the genetic Counselor at UDN Baylor, letting us know.
Within a few months, we received a call from Jill Mokry, the genetic counselor at the Undiagnosed Diseases Network (UDN) Baylor site letting us know Isla had a diagnosis. She has ReNU Syndrome. Her whole genome sequencing (WGS) had been reanalyzed: a recently discovered genetic disease caused by a change in her RNA (RNU4-2) was identified.
With ReNU Syndrome being a recent discovery (early 2024), there wasn’t a whole lot of data available. Jill told us to check out ReNU Syndrome United (RSU) to connect with other families. We finally had a name; we finally had a community.
I remember my husband and I just sitting on the couch, looking over the website, seeing other children who looked like our daughter. Children who loved music and water, a nice breeze, and clapping. And we cried. We just sat and cried, tears of joy and relief.
Was there a therapeutic treatment available to help with symptoms? Not yet. But now we weren’t alone. We connected with the Facebook group. Within a week, I had a call with the President and Vice President of RSU.
Dana Sayer, our UDNF Patient Navigator, was also with us every step of the way and helped guide us along and connect us with other resources. When following up with Jill and Dana, we asked what the next steps were. They connected us with Christin Siscoe, another UDNF Patient Navigator who was on the Therapeutic Matching Committee.
Christin Siscoe, another UDNF Patient Navigator, helped coordinate a group of parents and caregivers of individuals with ReNU who were diagnosed via the Undiagnosed Diseases Network (UDN) to join a Therapeutic Matching Committee meeting. This meeting included the two teams of scientists who discovered ReNU. They presented their findings, the current state of their research, and hope for future therapeutic treatment options.
The discovery of RNU4-2 was huge in the scientific world because genetic studies had not focused on non-coding genes like RNU4-2. RNU4-2 is the second-largest monogenic rare disease to be discovered. Researchers estimate 100,000 individuals with neurological developmental disorders will be diagnosed with ReNU Syndrome.
Being a part of the Therapeutic Matching Committee (TMC) meeting was enlightening and moving. Getting to meet the researchers and hear their scientific understanding about ReNU was mind-blowing.
Over the next 6 months, after our diagnosis was received, I jumped in to help ReNU Syndrome United (RSU) by writing funding requests to help support our Inaugural ReNU Hope Conference & Scientific Symposium. Working with the board to raise funds and getting to know this team at a deeper level was amazing.
The conference was a huge success. We met the teams that discovered ReNU Syndrome, as well as other scientists and researchers interested in and continuing research on ReNU Syndrome.
Meeting other ReNU families at the conference was also life-changing. I was asked to be on the parent panel with three other ReNU parents. As we sat on stage answering questions, I looked out and saw other parents with tears streaming down their faces because they got it. They understood every experience we discussed.
Parents of older children were able to offer insight into things we haven’t experienced yet. This journey isn’t easy. Day-to-day life is hard, but having this community walk through it with you is a huge comfort.
My biggest focus now is patient advocacy. Getting the information out there about ReNU Syndrome. Encouraging the undiagnosed community to request whole-genome sequencing, since ReNU is only identified by that method. Reaching out to genetic testing companies to request RNU4-2 be added to their whole exome and epilepsy panels.
RSU is now focusing on the roadmap to treatment. A big part of this will be conducting a natural history study and funding research.
Without the UDN and UDNF, we would likely still be waiting for a diagnosis. We felt like this was our last shot at finding an answer. We enrolled with very low expectations, but also knowing we needed to exhaust all options.