Editor’s note: Occasionally, we invite authors to write first-person account essays. We hope their reflections offer insight to readers.
As many as 200 million children globally have a rare disease, yet most aren’t diagnosed for years after birth. Instead, parents face an array of difficult symptoms often dismissed by doctors as “typical” developmental delays. In honor of FOXG1 Syndrome (FS) Awareness Month this November, we’ll look at this disease as an example. I’m the mother to a little boy with FS, and I, too, was once dismissed by doctors—to the point where I felt powerless and alone, with nowhere to turn to help my sick baby.
What is FOXG1 Syndrome?
For context, FOXG1 Syndrome (FS) is an ultra-rare neurodevelopmental genetic disorder that occurs due to a mutation of the FOXG1 gene. It’s usually a non-inherited mutation. The FOXG1 gene is crucial for the brain’s proper development. Mutations of the gene, therefore, result in underdeveloped brain function. Children with the most severe mutations of FS cannot walk, talk, sit up, or hold objects. My three-and-a-half-year-old son, Domenico, falls into this group. He also has a feeding tube and severe epilepsy. He’s had double eye surgery to correct his strabismus—which is when the eyes turn in or out, out of unison. Some other “foxes,” as we lovingly call our children with FS, have had surgeries for tracheotomies and spinal cord fusions. Both may be in Dom’s future—only time will tell.
Developmental delays ignored
When a child experiences developmental delays, you’d likely imagine that doctors suggest further evaluation. Instead, parents are often told to take a “wait and see” approach. This thinking may have worked well 50 or even 25 years ago, when fewer children had severe disabilities. Delays and disabilities have continued to increase since then. In fact, the American Academy of Pediatrics, the Center for Disease Control, and various international agencies have all documented these increases over the years. Instead of a “wait and see approach,” it is essential that developmental delays are not dismissed as “normal” and are instead properly evaluated alongside other signs and symptoms.
Early diagnosis of underlying conditions is crucial. In our case, we saw over a dozen doctors, each of whom told us he was fine, and would be fine. One pediatrician said, “Everyone is developmentally delayed these days.” We wanted to believe it, but it didn’t explain the endless crying or why he wouldn’t sleep more than two hours at a time. It didn’t explain why he had trouble eating. It didn’t explain why he couldn’t use his hands to hold objects, but instead was constantly clasping them. It didn’t explain his tongue thrusting. He seemed more than “just delayed.” Unfortunately, none of the doctors suggested further evaluation or genetic testing. And we hadn’t known to ask for it, either.
The dark days
It was the darkest, loneliest period of my life. My mother, wanting the best for us, assured me he’d be fine. My in-laws joked that if I let them take him, they could get him to sleep. I went to an older friend who said, “Megan, I had to do it. Everyone else had to do it. You can do it, too.” She dismissed my cry for help as though I was having trouble with new motherhood. Everyone had dismissed my concerns. In their eyes, I was a new mom unable to cope with a little bit of crying and a few sleepless nights, and I was dramatizing the situation exponentially. In defense of the older generation, disability was likely an unimaginable possibility. After all, they grew up in an era with much less of it.
The good days
Not all days were bad. We did our best to imagine that maybe the doctors were right and he would grow out of this. We tried to go for walks on the weekends and enjoy life. We had a few days out, enjoying what the world had to offer. But for the most part, feeding, sleeping, and even bowel movements were difficult for Domenico. I was caring for him around the clock, so I wasn’t showering regularly. I was too exhausted. We did our best, but for the most part, we couldn’t get outside often.
Dom’s diagnosis
At 14 months, we decided to take Domenico to have strabismus double eye surgery. It was one problem we knew how to fix. We hoped that correcting his eyes would improve his depth perception, better equipping him to push himself off the floor. Little did we know he had an underlying neurological disorder causing his strabismus, which would always prevent him from pushing off the floor, even with corrected eyes. Sadly, his first seizures began the next day. This prompted an in-patient hospital stay where we connected with an excellent neurologist who suggested and explained genetic testing to us. Within two months, he was diagnosed with FOXG1 Syndrome.
Missing out
FOXG1 Syndrome doesn’t currently have a cure or treatment, but some genetic diseases do. When diagnosis is delayed, kids may be prevented from receiving specialized treatments because some treatments can only be given during the first months of life to be effective. Regardless of specialized treatments, each day a diagnosis is delayed, kids miss out on quality care. In Domenico’s first few years of life, we missed out on speech therapy, physical therapy, and occupational therapy—all crucial for early development. We also missed care from our future neurologist, pulmonologist, gastroenterologist, endocrinologist, urologist, and dietician. At the time, we hadn’t known we needed each of these doctors to help us. We had only understood that we were facing impossible circumstances—and no one would tell us what was happening or why. Equally devasting, we missed out on knowing, and learning from, other FOXG1 families. Our “FOXG1 parents” have been an extension of Domenico’s care team. Many times, they are the first to help us identify symptoms and direct us to which type of doctor we should see for the next steps.
It’s time to wake up
I’m discussing this openly because it’s time for a wake-up call. Women around the world continue to be in these situations. Given that parents usually head to pediatricians with concerns before another type of doctor, help must begin with them. Pediatricians must understand when to suggest further evaluation via genetic testing and autism testing. Parents, alongside them, should know the early signs and symptoms of genetic disorders, and they should know they can, and should, ask for further evaluations if they’re unhappy with a “wait and see” approach. Pediatricians are not gatekeepers. In fact, it’s unlikely a pediatrician would say “no” to this request.
If you know someone facing similar struggles, share this article with them and tell them about genetic testing and all the doctors and other individuals available to help them. They are not alone—help is out there.
Great article.