Dr. Cara O’Neill, Chief Science Officer for Cure Sanfilippo Foundation, discussed her own journey with Sanfilippo Syndrome, issues causing diagnostic delay, and how the Foundation is helping advance science for a cure in an interview as the Aug. 28 guest on Global Genes’ RARE Cast podcast.
Causes Of Diagnostic Delay
The “Wait and see” approach and mindset of people who take care of young children is no longer appropriate in this day and age of genetic discovery and available science. “We need to be really aggressive and upfront when delays present and ask, ‘Why is this happening? We need to do a medical work up.'”
Many symptoms of Sanfilippo Syndrome and other disorders can be “easily explained away,” said O’Neill. Clinicians and others who care for children need to proactively pursue answers whenever delays or symptoms present themselves, she urged.
Details About Sanfilippo Syndrome
O’Neill shared in-depth information about Sanfilippo Syndrome, a terminal, neurodegenerative disease that causes children to lose all the skills they’ve gained, suffer seizures and movement disorders, experience pain and suffering, and then die.
Currently there is no FDA-approved treatment or cure for Sanfilippo Syndrome.
Children are born with Sanfilippo Syndrome, but it is invisible until they start exhibiting developmental delays or regression in their early years.
Early symptoms of Sanfilippo Syndrome are often: respiratory distress at birth, umbilical hernia, speech delays, frequent ear infections, poor sleep, hearing loss, “Autistic” behaviors, and hyperactivity.
“In later stages, it progresses with more severe developmental and behavioral aspects. In the middle stages, these children are extremely hyperactive and they have severe sleep disturbances,” explained Dr. O’Neill.
More Information: Signs & Symptoms of Sanfilippo
Mission of Cure Sanfilippo Foundation
Sharing the research strategy of the Foundation, O’Neill spoke of the unifying vision to push the pipeline of translational research to reach clinical trials.
Because there’s no way to know what therapeutic strategies is going to be effective for patients at different stages of the disease until it is tried, said O’Neill. “Animal models are great, but they can only tell us so much.”
She also noted that clinical trials are only successful if you’re measuring the right things. “Things that have a chance to show change and that are important and impactful in the patient’s life and are well suited for the patient population.”
The Foundation’s experiences with clinical trials over the past several years enables it play a part in closing the gaps in clinical outcome measures
Listen to the Podcast
To hear Dr. O’Neill’s entire interview, access the complete RARE Cast podcast at https://globalgenes.org/rare-cast/episode-297.