Life-changing second opinion for Jake uncovers rare urological anomaly

Jake plays golf after treatment for anterior urethral valves
PHOTOS: COURTESY OF THE GRESIS FAMILY

For most kids, going to the doctor ranks right up there with slogging through homework and cleaning their room — they’d rather be doing just about anything else. But 4-year-old Jake Gresis doesn’t mind traveling from his home in Virginia to see Dr. Richard Yu, director of the Robotic Surgery Program in the Department of Urology at Boston Children’s Hospital. “He always looks forward to coming to Boston,” says his mom, Wendy. “He’s well aware of what Dr. Yu has done for him.”

Just a year earlier, Wendy and her husband, Jim, had found themselves enduring a rollercoaster of emotions as physicians attempted to determine an accurate diagnosis for their son. After he developed a urinary tract infection (UTI), Jake had undergone testing at a nearby medical center. UTIs are rare in boys and usually a sign of a more serious problem.

Yet six months of evaluation there hadn’t uncovered the source of the issue. Physicians suspected that Jake had a type of urinary dysfunction called non-neurogenic, neurogenic bladder. “They told us they had done everything they could and that he would need to use a catheter or have Botox injections in his urethral sphincter for the rest of his life,” Wendy remembers.

Jake, relaxing at the beach, now has normal urinary function

Identifying anterior urethral valves

Although the family was devastated by the news, they refused to accept that nothing else could be done. An internet search brought them to Boston Children’s Online Second Opinion program and, in turn, to Yu. “He reviewed all of Jake’s records,” says Wendy. “He took the time to explain Jake’s situation to us and spoke about Jake as if he had known him for years.”

Even better, Yu had promising news: Jake’s home hospital hadn’t performed a key diagnostic test as extensively as they should have. For the first time in months, Wendy and Jim had hope that they might finally be able to get answers for their son.

Upon coming to Boston, the Gresises found those answers. Further evaluation with a cystoscopy, a procedure that allows clinicians to examine the inside of the bladder and urinary tract, revealed that Jake’s earlier presumed diagnoses were wrong. Although earlier testing at his previous hospital had ruled out posterior urethral valves — a congenital anomaly in which extra flaps of tissue develop in the urethra, leading to an obstruction — Yu discovered that Jake did have an even more rare anomaly called anterior urethral valves.

Jake, who received treatment for anterior urethral valves, smiles at the bowling alley.

‘What every child deserves’

Fortunately, anterior urethral valves are treatable. Yu removed the blockages using minimally invasive endoscopic surgery, and Jake now has a clean bill of health. At his most recent appointment, his parents were thrilled to learn that he has normal bladder function — something they say they couldn’t have dreamed of just a year ago.

“If we hadn’t found Dr. Yu, we would have just accepted Jake’s misdiagnosis,” says Wendy. “He literally changed the course of Jake’s future and gave us all our lives back.”

Today, Jake is a typical 4-year-old who can be found playing sports, hanging out at the beach and constructing fanciful structures out of LEGOs. And he’s always excited to share his latest milestones, like potty training, with his friend Dr. Yu — an enthusiasm shared by his parents. “We can never say enough about the Boston Children’s team,” says Wendy. “Jake’s experience here is what every child deserves.”

Learn about the Department of Urology.