When Harvey was born in March 2020, just days before the first COVID-19 shutdown, he appeared to be a healthy baby boy. Within months, his parents began noticing developmental delays. He struggled with head control, avoided using one arm, and wasn’t meeting milestones like crawling.
By eight months, his parents, Adam and Jackie, knew something wasn’t right.
What followed was what many rare disease families call a “diagnostic odyssey.” Years of specialist visits, imaging, therapies, testing, and still, no clear answers.
Eventually, after extensive genetic testing, Harvey was diagnosed with a rare genetic condition called DLG4-related synaptopathy, caused by a mutation in the DLG4 gene. That variant affects how his brain forms connections necessary for learning, movement, and speech.
Huge advances in the world of genetics have allowed neurologists to identify 100s of individual genes where a single mutation can affect everything about how the brain works. Unfortunately, identifying the cause of the problem does not bring easy solutions. Understanding why a child’s development is different can answer that burning question, but finding ways to help all the consequences of that mutation remains a daunting challenge.
Today, Harvey is one of only about 200 individuals worldwide identified with DLG4-related synaptopathy and just one of two children in the world with his exact mutation.
Because of the severity of his mutation, Harvey’s life is significantly impacted. He experiences frequent seizures, has limited mobility, does not speak, and requires assistance with feeding and daily care. Public outings can be difficult due to irritability and sensory challenges.
But Harvey’s story is not defined by his limitations. Rather, his story is one of resilience, advocacy, and hope.
Finding the Right Partner in Care
As Harvey’s neurological symptoms became more complex, his family was referred by other rare disease parents in Austin to pediatric neurologist Dr. Karen Keough.
For Jackie and Adam, finding a physician who prioritized individualized treatment and symptom management made all the difference.
Dr. Keough was responsive, proactive, and willing to listen. Most importantly, she was willing to act.
“Some providers told us there was nothing we could do,” Jackie shares. “Dr. Keough has always been open to treating symptoms, reviewing research we bring her, and trying options that could improve his quality of life.”
“With every child I see in clinic, I have the opportunity to make a difference in their life,” shares Dr. Keough.
“Sometimes it is harder than others, and for Harvey it took quite a few different approaches to find treatments that were helpful,” Dr. Keough explains. “We celebrate the small victories, and keep looking for more possibilities that could increase his quality of life.”
From Diagnosis to Action: HOPE for Harvey
In May 2022, Harvey’s family founded HOPE for Harvey, a 501(c)(3) nonprofit dedicated to advancing research and developing treatments for DLG4-related disorders.
The foundation supports scientific efforts to better understand the condition and explore potential targeted genetic treatments, not only for Harvey, but for others affected worldwide.
Recently, they filed an application with the FDA for the first targeted treatment of DLG4 with hopes of launching a clinical trial, and Dr. Keough is expected to serve as principal investigator.
“I have been truly inspired by Harvey’s family and everything they have done to make this treatment a real possibility to help their son,” Dr. Keough said.
Gene therapy has been a long-awaited goal in medicine for decades. We have now entered a new era in which gene therapy is becoming part of clinical practice for a growing number of conditions, with neurologic disorders among the areas showing greatest potential.
Next month Dr. Keough and Harvey’s family will meet with the FDA to get approval for Harvey’s “N of 1” trial, meaning Harvey will be the only patient studied with a gene replacement therapy. This approach is based on similar treatment trials in other genetic diseases that affect the brain.
Based on successes in these other trials, Harvey’s care team is very hopeful that this gene replacement therapy can make a real difference for Harvey as well.
“This is a great example of how progress in one rare disorder can benefit children who have different rare disorders,” Dr. Keough explains. “They can share in the successes and get one step closer to better solutions.”
Why Rare Disease Awareness Matters
For families facing ultra-rare diagnoses, the path forward can feel isolating and uncertain. But progress happens when families, physicians, and researchers work together.
In honor of Rare Disease Day, we recognize children like Harvey and the importance of compassionate, individualized neurological care for every child, no matter how rare their diagnosis.
About Child Neurology & Consultants of Austin
At Child Neurology & Consultants of Austin, we believe kids come first. Our friendly team of doctors takes care of children and teens with neurology, rheumatology, and sleep problems.
We have three offices in the Austin area and offer many services in one place, so families don’t have to travel far.
We also work with Texas Children’s Hospital and St. David’s HealthCare and to care for kids when they need to be in the hospital.
Our vision is to help every child become their best self.
Please contact us for more information at 512-494-4000.
