(I hope Jo’s important story about her son’s diagnosis from Autism to a Rare Disease will enlighten you as it did me. -Vickie)
He had just turned two when he was diagnosed with Autism.
It was 2004, and Autism was rarely discussed in the pediatrician’s office. Still, Andrew’s missed milestones had begun piling up. His doctor was no longer able to ignore what was right in front of him: A child unable to speak or play with his toys or point to airplanes in the sky. A child who had lost what few vowels and consonants he had managed to string together before his first birthday.
Our child, whose chubby arms would begin flapping whenever he was excited or stressed. Gone was his eye contact, his beautiful blue eyes always seemingly fixed on something right past us. Gone too were the silly games we used to play together. His ability to reciprocate seemed to vanish into thin air overnight.
We watched as our friends’ children, similar in age to our son, meet their milestones quickly. Yet, Andrew seemed suspended in developmental limbo. It wasn’t long before those same kids were surpassing Andrew in every way, and our firstborn son was regressing before our very eyes. A few weeks after being diagnosed with Autism, Andrew collapsed in our front yard. This was his first drop seizure rendering him unable to move his body.
It’s difficult to describe the fear and helplessness we felt as we watched seizure after seizure take our little boy hostage. As the months passed, epilepsy was added to his autism diagnosis. Global developmental delay and intellectual disability diagnosis followed soon after.
Before the ink had dried on Andrew’s medical records, we had joined local and national autism foundations. We hoped to find answers and support in a growing community we were now a part of. And we still remain friends with many of the families met in those early years of our autism journey. We are bonded forever by a shared passion for improving the quality of life for our children and bringing autism awareness into the world.
A Loneliness to the Road we were on with our son.
Despite our involvement in organizations and connections with other autism families and seeing Autism become a mainstream subject in schools, medical communities, and society as a whole, there was a loneliness to the road we were on with our son.
So Much Was Still Unknown
While Autism encompassed a part of Andrew’s challenges and unique perspective on the world, so much of our son still seemed unaccounted for. Intractable epilepsy, hypotonia, severe intellectual disability, and global developmental delay all remained part of the bigger picture of our son and the many struggles he was facing in his life. Years of genetic testing had yielded nothing more than negative results. Hope remained a quiet background presence, yet we resigned ourselves to likely never knowing Andrew’s full story. Instead, we threw ourselves into advocacy work, therapy appointments, IEP meetings, and helping our son live his very best life any way we could.
And then it happened.
His new epileptologist wanted to run a genetic panel. His hope was to uncover answers about Andrew’s epilepsy and guide us towards better treatments and seizure control. We went home with a small box filled with everything our phlebotomist needed to collect the necessary samples. We made the appointment, had Andrew’s labs drawn, scheduled a FEDEX pick update, and then forgot all about it.
Until the phone rang two weeks later.
He Was 16 When We Received The News
I will never forget sitting in the epileptologist’s office, watching as he held Andrew’s genetic report in his hands. He began reading, and my eyes blurred from the tears as I heard him say the words “genetic variant,” “rare disease,” and “SynGAP1.” I didn’t know what any of it meant yet, but at that moment, I knew we finally had the answer we had been so desperate to find. The specialist handed me the report, and as I read the symptoms and clinical presentation of SynGAP,. It was like reading our son’s developmental history as if someone had written nearly word of what we had witnessed and had been through over the years.
The missed milestones, the regression, even his clumsy gait was on there. For the first time in sixteen years, we had our child’s complete diagnosis: he had a rare disease called SynGAP, and it caused his epilepsy, global developmental delay, intellectual disability, and Autism.
Three Years Later
It’s been three years since we found out. There are days I’m still wrapping my brain around the news. Our identity for so long was wrapped up in all of Andrew’s separate diagnoses, and while having them all explained by SynGAP has been amazing, it’s also taken some adjustment. Am I still an autism mom? Yes. But I’m also a SynGAP mom, and in a lot of ways, it feels like we are starting over.
I am well-versed in all things ASD, yet, I still stumble when it comes to this rare disease. I am learning as I go while navigating a new community of families and advocates. One of the greatest gifts of this diagnosis has been the amazing people we’ve met so far along the way.
We joined the SynGAP Research Fund founded by two SynGAP parents and dedicated to funding science to accelerate treatments to improve our loved one’s quality of life. In the same way, autism families have propelled meaningful changes over the years. SynGAP families, too, are doing what is necessary to give their children access to the best treatments and services. While the rare disease is different in many ways from Autism, the common denominator among these two groups remains the same; wanting a better life for the people we love.
Strength in Numbers
Since Andrew’s diagnosis, I think about how many more people out there have undiscovered SynGAP. The most current SynGAP census shows 883 patients globally and 246 in the United States, with the oldest known individual with SynGAP to be in her 60’s. But we see the number of people with SynGAP is much higher, which is why stories like Andrew’s matter, and they need to be shared. As the autism community well knows, there is strength in numbers; it’s how we’ve moved mountains for individuals with ASD.
The rare disease has its own mountains we need to move. Helping families with SynGAP get properly diagnosed is imperative for furthering our mission to fund science. We need to expand supports and resources and bring awareness to the world. Not to mention, every diagnosed family can join the SYNGAP1 Registry, which improves the understanding of the disease for all patients, including those not yet diagnosed.
Autism and Rare Disease
If what you’ve read has resonated in any way, and you suspect your loved one may be a candidate for genetic testing, I urge you to speak to your treating physicians and specialists. Share the wealth of information you’ll find on the Syngap Research Fund website. Autism is a diverse spectrum, and indeed, not everyone with Autism has SynGAP. But, perhaps you know and love someone like Andrew too, and like us, you are searching for more. While Andrew remains the same amazing person, he’s always been, knowing the full story behind his many challenges has empowered us as a family in ways we never could have imagined. We have reignited our hope of giving him the best possible chance at living his very own best life.