Getting early intervention services is hard, even for me, a Pediatric Physical Therapist by profession. Advocating for my (therapy) kids has always been a passion of mine. I have witnessed how health systems provide variable care based on socioeconomic status, among other factors. I always advise parents to get a second or third opinion. When it comes to our children’s health, more is better. You always have the right to find a new provider and get a new assessment. I want to share the story of my complex journey of getting my daughter diagnosed and how my parental intuition and stubborn persistence were key to getting the attention and treatment she deserved.
Early signs of needing early intervention
As a mom with a physical therapist background, I have always prided myself in being able to provide my daughter with early stimulation and opportunities to optimize her development. However, despite my efforts, I felt she was slightly delayed in communication/language. Even though I noticed it and mentioned it to many others, everyone had many flavors of excuses, from “every child develops at their own pace” or “it is because you are a bilingual family” and finally, “let’s wait and see, since she is too little.”
The old ‘Let’s wait and see’ approach
When my child was two and a half years old, I still could not understand what she was trying to communicate. I decided to do something about my nagging concern that my daughter may have communication issues. I politely asked for a referral to get an Early Intervention assessment. It took 1-2 months to get scheduled 😫!!! And then, she still didn’t qualify because she was rated as “age level or above” in the other 4 domains of development. Yet again, their recommendation was to wait and see if she “catches up.” Time passed, and at age 5, my daughter struggled to speak in short sentences and communicate her needs. She started having emotional outbursts and poor mood regulation. I continued to hear that this was normal for her age.
Things get worse…
When my child started Pre-K, she was lagging in all the communication, language, and cognitive areas, regardless of how hard I tried to reinforce them at home. She had difficulty processing information, had 30-45 mins long meltdowns, and got easily irritated for no apparent reason. She also became increasingly defiant. I knew right then something was not okay, and it was time to act on it. I decided to take her to get evaluated through Child Find, but it was another 6-month wait.
Dr. Google to the rescue!
As a parent, I felt defeated and overwhelmed. I couldn’t keep waiting on the government program (if your kid is in public school this is the process) to get answers, so I searched on the Internet and lookup for other options within our health insurance. I found a few developmental pediatricians. The closest one in town had a 1-year waiting list. However, another provider ran a private-pay practice (not insurance-based), and the other was 150 miles away from home. I took my chances, despite the distance, and contacted them and got an appointment for the upcoming week. That first appointment changed our lives!
Finally, early intervention!
Being a healthcare provider myself, I am very selective when choosing medical services for my family, but this MD was a saving grace in the middle of our storm. Our new developmental pediatrician assured me that some of the behaviors my child presented were expected for her age. However, according to his expertise, her communication delay and difficulty retaining new information raised a flag. Because of this, he recommended 3 referrals: private SLP, Neurology (EEG), and MRI. No questions asked, no fuss! Did I already say he was a saving grace?
Fast forward 3 months since that first assessment; my little one started Speech Therapy right away, MRI was done and cleared, and the EEG was scheduled. On December 4th, 2019, I got a call; I was notified that her EEG returned with abnormal activity.
“Mom, we need to do a 24hr VEEG to make sure is not just a fluke.”
Light at the end of the tunnel!
My world, as I knew it then, crumbled… being a healthcare provider didn’t make me any stronger; I cried! Yet, we still did not have any diagnosis. In my heart, I knew that the activity identified in her EEG was not a fluke. I knew something wasn’t right. By the end of December, we received another call confirming my child was found to have Seizure Activity (non-convulsive) in her sleep. I felt better that my intuition was finally validated. We had something identified to get the treatment for my daughter identified and started.
Another twist in the tale…the pandemic!
After going through hoops to get everything in place, the infamous Coronavirus appeared. We were in the middle of running genetic testing through her neurologist – using Invitae’s ‘Behind the Seizure’ program – when CoVID-19 disrupted our routine and added stress to our diagnostic process. Her genetic panel test came back with a difference in a gene known for cardiac (related to the heart) events. This meant that we had to get more medical testing done.
Due to the pandemic, my town’s medical offices were all closed. I could not get all her medical appointments scheduled. Her neurologist referred us to a whole slew of new doctors in Orlando, Florida – Pediatric Geneticists and Cardiologists. As a mom looking for answers and learning about my child’s new diagnosis, I read and re-read multiple research articles related to her known mutation. I was very overwhelmed, hoping to get clarity through the “specialty” physicians, but they did not give me the needed answers. I felt like they were treating me as an overprotective mom. The geneticist didn’t think much about my daughter’s panel testing results, yet I requested a cardiology evaluation. Luckily, we were able to get an appointment within two weeks. Those 2 weeks were the longest two weeks of my life!!!
The Cardiologist Appointment
We went to her appointment and got some routine tests done: Echo, a 1-min EKG, and a physical checkup. The Cardiologist had already got Manda’s genetic testing results and read them verbatim instead of explaining them in plain English so that an average person, like any mom, would understand. Aren’t these top doctors supposed to know more than me? I continued to ask questions regarding the probability of her having cardiac issues due to this Variant of Unknown Significance (VUS). The Cardiologist said he didn’t suspect any involvement and that her cardiac symptoms were not “worrisome.” Needless to say, I was not satisfied. Hence I requested to see the Electrophysiologist (a cardiologist specializing in cardiac rhythm). Against his initial clinical judgment, he referred our case to this new specialized doctor.
(Bad) history repeats!
To make a long story short, my concerns were dismissed with no further testing; not one test was done! I left the office crying and exhausted, praying my baby didn’t present any other cardiac symptoms until I could get a third opinion. A few months passed, and her Pediatrician agreed we needed a third cardiology opinion. Our Pedriatician gave me the name of an Electrophysiologist who collaborated with him; he was definitely another God-sent doctor who listened and ensured my concerns were addressed! Seven months later, we finally found answers and some peace. We finally got our new norm one year and nine months later.
From PT to warrior mom
It was and still is exhausting to advocate for our kid’s health, access, and even the bare minimum! I knew all the procedures due to my clinical background. I am very vocal and outspoken. However, I could not imagine how hard it could be for those parents that do not have a medical background. Parents need trusted guidance on how and where they can receive services for their kids. Parents could easily get lost in the bureaucracy of three systems – the healthcare system, the insurance system, and the public school system. Being an advocate for families like mine is a passion for me. I have now seen both sides of the table, both as a therapist and as a parent!
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