Barbara Roxas, mother to Kieran, would like to share her personal experience with the diagnosis of Down Syndrome Regression Disorder (DSRD).
Two years ago, my son and I stood in our kitchen as he told me, “Mom, I have two years left of high school, then I graduate. I’m going to college!” He was fully engaged in family life and his school community in general education classes, played several sports, and was chosen as the senior male athlete to represent his school in a sportsmanship event. In the fall of 2023, his senior year of high school, we noticed some changes. He was acting and behaving out of the ordinary: very slow and stilted movements, staring off, less engaged with people, he stopped speaking (except in whispers, then sign language only, progressing to little to no communication), slow eating and loss of weight. His high school team of teachers, support staff, and administrators noticed the changes as well and were equally puzzled. He was becoming someone we didn’t recognize anymore.
In December, Kieran reached critical decline and was admitted to Seattle Children’s Hospital where he went through an extensive medical workup over eleven days to exhaust all other potential illnesses that may have caused the presenting symptoms. We left the hospital without any answers but, in March 2024, he was diagnosed with Down Syndrome Regression Disorder by a doctor at the Down Syndrome clinic at Virginia Mason. He began treatment immediately and got progressively better over time but never returned to his baseline. In August, we had an appointment with Dr. Santoro, a neuro-immunologist at Children’s Hospital Los Angeles, he confirmed the diagnosis given earlier and we have a plan for treatment moving forward, though it is not certain of the outcome yet.
Dr. Eileen Quinn, a developmental pediatrician at the University of Toledo, and Dr. Jonathan Santoro have been crucial in bringing attention to what is truly a devastating experience for families. Dr. Santoro launched a research paper in 2022 that describes the current research on regressive symptoms for people with Down Syndrome. An article in the Washington Post featured Dr. Quinn and includes other key players like Dr. Santoro:
“Santoro and his team say they now have evaluated over 500 patients from all over the world, and many had abnormal brain scans or immune systems in overdrive, leading to inflammation that appeared to have affected their brains, possibly triggering the regression.”
There is a lot that is still unknown about this disorder but if you are concerned about a loved one with Down Syndrome with unexplained regression, note the following symptoms but see the full list here: Regression & Down Syndrome | National Down Syndrome Society (NDSS)
· Behavioral changes
· Changes in thinking and processing of information
· Loss of functional and social skills
· New seizures or neurological deficits determined by a physician (weakness, slurring of speech)
· Difficulty sleeping or sleeping at irregular times
· Language difficulties
· Irregular movements
· Mental health symptoms
If you have concerns, reach out to your primary care provider and share the information about Down Syndrome Regression Disorder so they can help support your loved one.
Regression in Persons with Down Syndrome: Current Consensus Update for Families
A strange regression was linked to Down syndrome. These moms found answers. – The Washington Post
Down Syndrome Regression Disorder: short video resource (youtube.com)
