My story ends at Texas Children’s Hospital in 2011, but it started much earlier and over a thousand miles away in Milwaukee, Wisconsin. My first son, Grayson, was born in February 1997 after an uneventful, full-term pregnancy. The first day was, well, normal. However, within twenty four hours, it was clear that something was off and not quite normal. Grayson was cranky, irritable and inconsolable – even the pediatric nurses felt something was off. Then grandma pointed out that his eyes were not symmetrical – one seemed small. This was the beginning of my journey to understand Grayson’s diagnosis.
Within a day we had the first diagnosis – optic nerve colobama with a microthalmic left eye. Then came the specialists and the tests – they ruled out CHARGE Syndrome early on and genetic tests showed nothing. We were sent home with a newborn who was most certainly blind in his left eye and would need to wear a prosthetic eye.
Time passed; Grayson was joined by three younger brothers – none of whom had any health issues. Over time I gave up on finding what caused Grayson’s eye condition – multiple specialists were unable to tell me why. But I made the decision to let others learn from him and study his eye condition. I found studies that asked for families to donate their DNA and medical history (parents, siblings and the affected child). That led me to a UCLA genetics study in the late 90s using salvia, which in turn led to a study by Einstein Hospital in Philadelphia a few years later, this time collecting blood samples. I learned early on how to FedEX blood samples!
By the time he was thirteen, the vision was no longer a major concern – now I was concerned about his quirky behaviors (brilliant, socially awkward and delayed language). I had tried for years to understand if he was on the autism spectrum – multiple medical reviews left me with no formal diagnosis. A few days before Christmas in 2010, I got an early present. The genetics department at Einstein called to let me know that they had found copy-number variations (CNVs) of gene 16p11.2 in his DNA. With advancements in testing, they had gone back to look at Grayson’s blood samples – tested years after we donated them. The testing we had performed in 1997 was too crude to find his chromosomal deletion.
Einstein geneticists referred me to the SIMONS VIP project that was studying this relatively new and poorly understood chromosome which was being linked to autism. The study seemed too good to be real. Grayson applied for and was accepted into their study – within weeks! The SIMONS team had multiple testing locations and they selected Texas Children’s Hospital for us. In August 2011, our entire family traveled to Houston for a week of detailed research that included mental health surveys, blood work, MRIs – they did it all and they did it wonderfully. After the data was collected, the diagnosis I had waited years and years for was finally complete – at age thirteen Grayson finally was able to name what we all thought for years – he was autistic. His genetic deletion, combined with his optic nerve coloboma, is rare enough that his case has been written up in genetic journals. Their testing confirmed that his deletion was de novo, not impacting his siblings or parents. Grayson understands the probability that he can pass this to his children – knowledge that we struggle with but are so grateful to know.
Now, three years after the study, I struggle to explain what this meant to my boys and me. The medical diagnosis has opened up a new world for him – knowledge that he is not alone. It’s not always easy for him – navigating the complexities of high school social norms is hard on any kid and harder on him. Texas Children’s diagnosis led him to embrace social support groups (PEERs), he is now a paid participant in Marquette University’s engineering department’s research on autism and he even told his high school biology class about his testing. The incredibly well documented diagnosis from Texas Children’s has been instrumental in getting improved school special education plans, medical coverage for mental health issues and passage into Wisconsin’s vocational support programs. None of this would have been possible without that crucial week we spent in Houston.
I cannot begin to express my gratitude to the research team from Baylor College of Medicine, the staff at the Texas Children’s Hospital and the SIMONS VIP project for funding all of the testing and travel expenses. We were truly and utterly pampered. For the first time in his life, Grayson was proud of his uniqueness. To this day, our week in Houston is considered in the top three coolest things ever for the Dugall family (ranking only after Green Bay Packer games at Lambeau field and ahead of the family vacation where our van was totaled and we were stranded in Indiana).
For more information about Texas Children’s Autism Center, visit here.