For Joel: Fragments of an Undiagnosed Life — A Family Story

PATIENT STORIES

FEBRUARY 11, 2020

Ashley Evans is a co-founder of the SynGAP Research Fund.

Joel as a baby on the left. His parents June and Fred on the right.

Joel Maurice was born in a small town in Iowa in the late 1940s. He was an uncannily happy baby, giggling and cooing at every turn. He had trouble learning to walk, though, and it wasn’t clear whether it was because of his lazy left eye. He didn’t speak much either during those early years; his brother John David, only 17 months older, would be his voice, telling all comers, “Joel wants…”

Joel was unsteady on his feet, and had trouble keeping pace with childhood games. He loved setting off fireworks with his cousins, he loved the Peanuts characters and he loved music. He would often sit away from the crowd, tapping his fingers to a beat only he could hear.

Soon John would go out to play with his friends, and Joel would almost always stay behind at home with their mother June. Sometimes the days would turn into weeks before they would leave the house.

Joel became adept at drumming, able to express all those beats in his mind. John traveled with his relatives to Europe, learned French, and went to college on the east coast. Meanwhile, Joel studied music at the local college, but the pressure overcame him. He was hospitalized and sent home to his parents, and sometimes the weeks would turn into months when he didn’t leave the house. When he did leave the house, at 6’5’’ and 280 lbs, he was sometimes taken in by the local police, just for looking scary. Hospitalizations and institutionalizations came and went, along with electric shock therapy and cocktails of drugs. Joel still loved Peanuts and he kept drumming.

John got married and had a baby. When his parents called, sometimes his lips would purse, words became terse, and he would hang up shaking his head, “Joelie, Joelie boy.” The boys wrote letters to each other, Joel’s handwriting getting shakier and his narratives harder to follow. June grew ill — they lost her in 1990. Joel continued to live with his dad Fred until Fred’s death in 2000. John found a group home for Joel and cleaned out their parents’ house — perfectly kept records showed a total of twenty-two hospitalizations and institutionalizations. In 2003, John and Joel gave Joel’s drum set away to his cousins; playing in their basement for the very last time, Joel lit up with joy. That next year, cancer began to spread through Joel’s body and they amputated his left hand. When his uncle came to visit him, he was still tapping away with his right hand. Joel died in 2006.

When I was a little girl, I had a favorite toy that was good at drumming — I called it “Crazy Uncle.” My mother made that toy disappear one day, and I never asked where it went. Until he lost his mother, I had never seen my father, John David, cry. Until my dad lost his father, I never heard him acknowledge his brother Joel’s suffering. But when my dad was dying in 2015, I would sometimes hear him say, again, “Oh, Joelie, Joelie boy.”

When my own son was diagnosed with SynGAP two years ago, it took a genetics lesson for me to conclude that my Uncle Joel could not have had SynGAP himself. But there was still a part of me that hoped that he had. Because that would have given me a way to understand him, to piece through the half-heard, half-understood tales I had been told from others; to connect, through my own, passionate, heart-filled son, to the mysterious boy and man that Joel was.

I know my grandparents stood by his side, and did what they believed was best for him, in an age where there were no meaningful diagnoses for neurological afflictions, no faithful scientists working on the problems, no therapists to stand by them to ease the suffering, and no hope for a cure.

Joel’s affliction was, and to this day remains, undiagnosed. He lived at a time when that undiagnosed life was one of heartbreaking loneliness. The days, weeks and months when Joel didn’t leave the house — I will never know how many of those times were days when he was not in the right state to face the world, or, rather, that he and his parents feared the world would turn its back on him.

As the mother of a diagnosed child, in an age where a diagnosis can bring hope, my wish for all our children is that their days and weeks, as much as possible, will be in the sunlight. That they will find friendships and will nurture their passions. And, in honor of Rare Disease day, in honor of all the undiagnosed Joels, I hope we can all take a moment to listen for all of them, and the beats of their own drums.

Joel’s niece, Ashley with her sons, John (1) and Tony (6). Tony has Syngap.