Riley

Age: 12

Duplication: 46,XY,der(20)t(4;20)(p16.1;p13)mat

Lives in: Minneapolis, Minnesota, USA

Riley was born Dec. 13, 2002—five weeks ahead of his due date. Despite the early arrival, he was a healthy and seemingly typical infant. But after seven months, he started losing some skills (grasping a bottle, for example). And when he was sleepy, his eyes made a disconcerting rolling motion. An EEG revealed he was having infantile spasms, a type of seizure. We began injecting him daily with ACTH (a steroid). We had to give the shots for 12 weeks, but after the first 6 days, the spasms stopped. He’s had no seizures since.

From there, Riley began physical, occupational and speech therapy (which he’s continued throughout most of his life). He developed skills slowly, but consistently made progress. He sat up and crawled a little later than most kids do. He walked at 2 ½. During this period, we wondered if Riley might have a genetic disorder. A decade earlier, we discovered Jennifer has a balanced chromosome translocation. Back then, specialists told us that if a baby had an unbalanced translocation, the pregnancy would almost certainly end in miscarriage. In the unlikely event it went full-term, they said, the child would have obvious, severe birth defects from day one. Riley’s doctors in 2003 seemed to agree. When we asked about genetic testing, they said, no, Riley’s issues weren’t likely the result of a translocation. 

So it wasn’t until Riley was 3—and Jen was pregnant again—that a genetic counselor suggested he get tested. Sure enough, the results showed an unbalanced chromosome translocation: partial trisomy 4p, with partial monosomy 20p.

Today, Riley is 12. He’s a gentle soul who grins often, loves to laugh, and literally skips from place to place. His passions (some might say obsessions …) include trains, buses, fire alarms, ceiling fans, padlocks, parrots and elevators. He loves exploring these topics out in the world—and on his computer and iPad.

He has some motor skill deficits. He takes stairs gingerly. He enjoys running, but with an awkward gait. Oral motor planning is particularly difficult, so eating is a big everyday challenge. His tongue can’t easily manipulate food in his mouth, which makes chewing nearly impossible. That means he must take in food that’s moist and ready to swallow. He eats a lot of pasta (mostly macaroni and cheese—about the only item on a typical restaurant menu he can order), plus mashed potatoes and vegetables, ground meat, oatmeal, scrambled eggs, and pancakes. He’s had years of feeding therapy, which has led to some gains—but he’s still a long ways from biting into a burger. Poor oral motor control used to cause excessive drooling, too, but Riley controls that pretty well now, unless he’s facing downward and concentrating on a book or the iPad.

Riley also has difficulties related to his vestibular system, which affects body movement and balance. He gets quite anxious in certain positions and on unsteady surfaces. For a long time, lying on his back caused outright panic. But after focusing on that in occupational therapy a few years ago, one day we walked into the living room and found him reclined on the couch. It was a shocking milestone!

Socialization also causes anxiety. At times, Riley reminds us of the old Warner Brothers animated frog who sings and dances for the man that finds him, but sits silently whenever he’s given an audience. With a few select people—us and a handful of other close adults—Riley freely engages in long (sometimes repetitive) conversations. But among others—especially kids—he’s nearly silent, often turning away if someone greets him or poses a question. In recent years, he’s become better about nonverbal interaction: a wave or a handshake here; a high-five or a thumbs-up there. And Riley does enjoy many group settings. He’ll enthusiastically clap and perform hand motions during a school assembly; he’ll giggle with classmates when a student does something funny.

Currently, Riley is in an autism program at a public middle school. (He also has a medical autism diagnosis.) He reads and spells well, and his memory for facts is impressive. (He can name nearly every state capitol, thanks to his Stack the States app.) Answering questions that require interpretation or inference, however, is tougher. And math is a significant challenge.

Handwriting is also difficult, but he’s proficient with a keyboard. Sometimes, he surprises Scott at work with a text message from Jen’s phone explaining that he had a fire drill at school or bought a Matchbox fire truck at Target.

At home, Riley is increasingly playful with his siblings (Annabel, 8, and Sawyer, 5), neither of whom have special needs. He likes being outside, especially riding his bike (a standard 2-wheeler with training wheels) and fishing. This year, he joined a Special Olympics basketball team, which has been a great experience. He’s improved some athletic skills and handled other aspects of the program—following directions; the fast pace of the game—very well. 

On weekends, he’s happiest on outings to anywhere train-related: model train shows, light rail rides, historic depots, etc. He also enjoys time with his grandparents—Grandma Mary Claire and Grandma Fran and Grandpa Doug. 

As he enters adolescence, we don’t know what the future holds for our oldest son. But we’re lucky to be there at his side. Riley is a sweet, charming, affectionate guy who teaches us a great deal and contributes enormously to our family. We can’t imagine life without him!