Let's Welcome Harvey

Harvey was born in March 2020, in Seattle, WA at the start of the Covid pandemic. When we came home with a healthy baby boy, we felt so fortunate. I had had an uncomplicated pregnancy and undergone all of the genetic testing available during pregnancy. We thought our worries were behind us. The next several months went by with little concern. The only presenting concern at birth for Harvey was intermittent strabismus, which his physician’s assumed he would grow out of overtime. By 5 months, though, we began seeing Harvey’s first specialist, the Ophthalmologist for worsening concerns over strabismus. Little did we know that this would begin our medical journey.

By 7 months old, we began having concerns over Harvey’s global lack of development. Fortunately we had a very proactive pediatrician, and by 8 months Harvey was referred to Seattle Children’s Neurology department. At 8 months old Harvey wasn’t rolling or beginning to crawl. He hated tummy time and had a difficult time holding his head up. He was also not grabbing or playing with objects as he had lost his initial grasp reflex, and we had noticed a tendency for Harvey to just whack at objects with his left hand. I remember working tirelessly with Harvey. Thinking, we’ll catch-up.

I’ll always remember his first Neurology appointment. It was two days before Christmas 2020, and the Neurologist believed Harvey was showing signs of a perinatal stroke. At this point, Harvey began undergoing several diagnostic tests (MRI, several rounds of metabolic testing, and ultimately two rounds of genetic testing), but the MRI and metabolic testing were not indicative of a perinatal stroke. After a family move across the country to Austin, TX in early January 2021, I remember the Neurologist reviewing his MRI and stating he had a beautiful and healthy looking brain except for some signs of delayed myelination, which he was not overly concerned by at the time. Despite Harvey’s brain looking great on a MRI, we would later learn through the research on DLG4, that his brain wasn’t working properly. I also remember one specialist saying Harvey was a ‘mystery.’ By 10 months of age, Harvey was diagnosed with a Cortical Visual Impairment (CVI), which his Ophthalmologist observed long before he received his DLG4 diagnosis, and he was given a prescription for glasses for the strabismus. At this point we were also referred to a slew of specialists and therapies: GI for constipation and possible food intolerances due to rash and days of inconsolable crying; Orthopedist for concerns about leg length discrepancy, hip dysplasia monitoring, and concerns over possible scoliosis; ENT for swallowing concerns; Audiologist to rule-out hearing concerns; OT for fine motor and sensory defensiveness and self-stimulatory behaviors such as rocking and staring at his hands; PT for ongoing gross motor delays; ST for speech/babbling delays as well as feeding therapy due to his lack of muscle control when swallowing; dietitian to better understand the inconsistencies in bloodwork and better control his diet with his limited eating abilities. It took until 17 months of age for us to get the results of the full Xome genetic testing. At that point we learned that Harvey had experienced a spontaneous genetic mutation of the DLG4 gene. All of a sudden, everything made sense, all of the delays, all of the confusion, all of the sleepless nights due to anxiety over Harvey’s needs and his uncontrollable crying. We finally had an answer.

We don’t really know what’s ahead for Harvey, as we await what life brings. There will be several more specialists, I’m sure, including ruling out any signs of seizures common with DLG4 and getting a gait trainer soon, and likely years and years of therapy. But, we do understand the power of one simple mutation and its devastating effects on a child and their family. Our sweet baby boy has the best giggles, especially when he sees his big sister, he now loves to pull my hair and headbutts me out of affection, but most days are a real struggle. Some days, he cries for no understandable reason, has no self-feeding skills, has limited mobility, and limited communication except for cries of frustration. His therapy, doctor’s appointments, and the ongoing fights with insurance can be exhausting. It’s also incredibly difficult finding a daycare, even special needs daycares, which would accept my son with the level of care he requires, so ultimately one caregiver often has to quit working in order to meet the needs of a child with DLG4. Despite all of this, he’s my baby boy. We still get to watch him grow and change, and he is slowly making progress. He now rolls, can sit independently, does some grunting for communication, and can bear weight when standing in his new foot braces and is starting to take steps with assistance.

My hope is that one day we’ll have more than answers, we’ll have solutions for other children and their families. I truly believe that the scientific progress in genetic therapy will one day be a solution for DLG4, which is why I’m here posting about my child, in hopes that another child and his/her family may not have to face the devastating consequences of a rare genetic disorder like DLG4. I hope that researchers will hear these stories and have the will and drive to find answers, and I hope we can find the financial donors to support such research. I hope, for me, for my family, for other families, but mostly, I have hope for my son.