Dr. Cara O’Neill, Chief Science Officer for Cure Sanfilippo Foundation, is also mother to a 10-year-old daughter with Sanfilippo Syndrome. She urged that the traditional “watch and wait” approach by physicians when a child first exhibits developmental delays is not acceptable anymore in today’s age of genetic medicine during an interview with Sonia Adnan of Instagram’s autismlifegram.md.
“Special needs parents spend so much time [with their children] in therapy and with therapists and their kids. Their [own] lives don’t get featured anywhere. Especially their ‘special lives.’ We see them at parties being typical people, but their is a side to their lives that is very unique. And [that part] has pain and grieving with it,” said Adnan as introduction to the value of hearing from parent caregivers.
When asked how the diagnosis of Sanfilippo Syndrome was found for Eliza, O’Neill heartbreakingly shared the guilt she carries. “This is always a really difficult question for me because there’s a lot of guilt associated with that. That somehow I [asa physician] didn’t put two and two together faster. Or what if we had done this or that. I know I’m not the only person or the only kind of disease that a parent feels that way. But looking back in hindsight, everything is super crystal clear. I can see all those points along the way where we might have dug a little deeper.”
O’Neill emphasized during the conversation with autismlifegram.md that rare disorders can seldom be determined simply by taking a family history. “In this kind of [autosomal recessive] inheritance, in rare disorders, a family history is almost never going to lead you down the path of looking towards these disorders,” said O’Neill. “While family histories are an important piece of an exam, it is certainly not something you can rely on to help you with a diagnosis always.”
“The challenge is: You see so many kids as a pediatrician, how do you narrow that down to what’s really abnormal? We’re taught [in medical school and residency] the ‘watchful waiting.’ Refer only if it’s needed. Test only if it’s needed. A little bit of a hesitancy. And I would say, in this day and age of genetic medicine and all that’s been learned over the years about what we understand about the genome and these emerging therapies, that the ‘watch and wait’ approach is not acceptable anymore.”
“When a child has their very first developmental delays, we [pediatricians] need to not be thinking about things like, ‘I’m just going to send them to early intervention … and see what happens.’ We need to be, from the very beginning, thinking of all of these causes of developmental delay and not just assuming it’s going to get better with therapy and do a medical workup.”
She shared how many of Eliza’s symptoms of Sanfilippo Syndrome like large head size, recurrent sinus and ear infections, early speech delay, umbilical hernia, and frequent loose stools were mistakenly attributed to chance, environmental factors, or simply needing time for development. “All of these are pretty common, individually features, but when you put them together,” should trigger a physician to do more of a workup. “And it doesn’t mean you have to refer to a geneticist. These are tests that can be done in the primary care office easily.”
Watch the entire interview with autismlifegram.md, which included several other topics and issues.