Medical mystery: A clue to a girl’s painful ailment long overlooked

Posted May 22, 2013, at 9:30 a.m.

“Oh my God,” Leigh Partridge remembers thinking, her mind reeling as she tried to contemplate the unimaginable. “This cannot be happening again.”

Doctors in the emergency room of Children’s Hospital of Philadelphia (CHOP) had just told Partridge that a mass in the abdomen of her 16-year-old daughter might be cancer. Further testing would be required.

To Partridge, who had lost her husband two years earlier when brain cancer killed him in a matter of months, the possibility that their middle daughter might have a malignancy was terrifying.

“I didn’t even know who to call to come sit with me,” Partridge recalled. “The person who was supposed to be with me wasn’t there” anymore.

Allison Partridge, then a high school junior, had found the fist-size tumor in her abdomen the previous evening while lying in bed at home. For months, Allie had suffered from severe and worsening pain in her lower abdomen and tailbone, which she usually tried to minimize or deny to protect herself and her mother. But now the pain and the giant lump were too obvious to downplay.

“My mom was definitely freaking out a lot more than I was,” Allie recalled.

Her hospitalization in April 2011 was both traumatic and a turning point, revealing the unusual cause of her problem as well as the essential clue — unknown to her mother — that was overlooked by doctors.

— — —

This was not the first medical scare involving Allie.

When Leigh Partridge was pregnant, a prenatal blood test indicated Allie might have Down syndrome; further testing ruled that out but an ultrasound found that she appeared to have only one kidney.

Her birth in August 1994 revealed that her lone kidney, while larger than normal, was functioning well. About one in every 750 people is born with only one kidney, and most do not have long-term problems as a result.

An audiologist who worked with deaf children, Partridge was sensitive to developmental delays and asked doctors if the sole kidney meant that her daughter would need any follow-up as she grew. Partridge said she was told no.

To make sure it was safe for Allie to play soccer, her mother took her to a pediatric urologist near their suburban Philadelphia home when she was 11. “He said, ‘No tackle football, but go about your business,’ ” Partridge recalled. No special precautions were needed, and Allie began playing soccer and lacrosse competitively.

Her father’s sudden death when she was 14 and a freshman in high school, was a devastating blow. Always a hard worker and a fierce competitor, Allie seemed to redouble her efforts in sports and school. “She got straight A’s after her father died,” her mother said.

But there was a new cause for concern as Allie neared 16: She had never gotten her period. Her pediatrician was unfazed; she was tall, skinny and athletic, a combination that can sometimes cause a delay. But her mother had grown increasingly concerned and had scheduled an appointment with a pediatric endocrinologist for July 2010. A month before the appointment, mother and daughter were relieved when Allie got her period.

Although she was stoic, her periods, which were light, were extremely painful — so bad Allie would spend a day or two in bed.

“I didn’t tell my mom at first, but my tailbone really began to hurt,” she recalled. It felt as if something was pushing on her coccyx, and she took over-the-counter painkillers to cope with her cramps and back pain.

In November 2010, Partridge, concerned about Allie’s worsening pain, took her to the pediatrician. Mother and daughter both recall that he seemed unconcerned and told them that cramps were normal during a period.

By January 2011, her mother noticed that Allie wasn’t eating much and seemed to push the food around on her plate, although she seemed hungry. Worried that she had developed an eating disorder and alarmed by her obvious weight loss, Partridge asked her daughter if she was anorexic.

Allie was adamant and said she sometimes felt nauseated. “It’s not a problem; I’m not anorexic,” she protested. “I have friends with eating disorders, but I don’t have one.”

Partridge was unconvinced; she persuaded Allie to see a therapist to help her deal with the trauma of her father’s death, her problematic eating and whatever else might be bothering her.

— — —

By March, the pain in her tailbone was constant and her hip had begun to hurt. Increasingly, Allie sat and watched as her varsity lacrosse team worked out without her.

At night, she found that lying in a fetal position helped; playing table tennis with her boyfriend had become so painful that she had to stop.

Her mother took her back to the pediatrician, whom they had seen several times since the fall for various problems, including her eating and frequent colds. He decided she had a hip injury and told her not to play lacrosse. When Allie mentioned that she was constipated, the doctor prescribed dietary changes and a laxative.

A week later, she saw a chiropractor for her hip pain. He told her she needed to improve her posture. But neither the advice from the pediatrician nor the adjustments performed by the chiropractor helped.

On the night of April 4, she was in so much pain that her mother took her to the ER at Philadelphia Children’s. The diagnosis: severe constipation and a hip injury. No lacrosse, said the doctor, who prescribed enemas and sent her home.

Partridge remembers the next 48 hours as a nightmare. Allie remained constipated despite several enemas and spent much of the time crying in pain and fear. In the middle of the night on April 6, she called her mother into her room and showed her the large lump protruding from the left side of her abdomen.

“She was always really thin, but now she looked like a POW,” her mother recalled. At 5-foot-9, her weight had dwindled to 105 pounds, making the lump terrifyingly obvious.

Early the next morning, her mother took her back to the ER, where a parade of doctors felt her stomach and told Partridge her daughter might have cancer.

“No one really had any idea what the thing was,” Allie recalled, adding that she tried to “play down how much pain I was in” to avoid further panicking her mother — and herself.

Luckily, it only took hours to determine that the mass was not malignant. An abdominal ultrasound revealed an answer that was both surprising and predictable.

Allie had been born with a rare condition called a double uterus, or uterus didelphys: Some of her reproductive organs, including her uterus, had been duplicated during the early stages of fetal development. Double uterus, in which the organs are typically adjacent to each other, is more common in women born with a single kidney; in 15 to 30 percent of cases, menstrual blood becomes obstructed and cannot drain properly. The “tumor ” turned out to be accumulated blood.

Uterus didelphys is rare, according to emedicine, an online medical encyclopedia; estimates vary widely from 1 in 2,000 to 1 in 1 million; some women do not know they have the condition because it never causes problems. But for those who experience unusual pain, which usually begins after menstruation, surgery may be required.

Uterus dydelphys can also cause recurrent miscarriages and, in extremely rare cases, fraternal twins who are delivered hours or even days apart.

Surgery was scheduled for the following morning, a Saturday. “Basically she had two half [-size] uteruses and two cervixes” and vaginal tissue that had trapped the blood, said Samantha Pfeifer, director of the reproductive surgery program at the Hospital of the University of Pennsylvania. An expert in adolescent gynecology, Pfeifer was called in to perform the procedure, along with a surgeon at CHOP.

The months-long blockage had damaged one of Allie’s fallopian tubes, which had to be removed; the accumulated blood had put pressure on other internal organs, which were pressing on her tailbone, causing the worsening pain, diminished appetite and severe constipation.

Pfeifer, an associate professor of medicine at Penn, is one of a handful of surgeons who specialize in treating such cases.

“One of my pet peeves is that doctors don’t tell women with a baby born with one kidney that this could happen and that when she gets her period,” treatment may be required, Pfeifer said. And because many doctors don’t learn about such anomalies in medical school, many don’t know about such a complication.

Instead, “traditionally no one puts two and two together, and these kids are seen repeatedly in the ER for constipation and pain for months — or years.” Many radiologists, she added, are not familiar with the problem. “I’ve seen it diagnosed as ‘fluid in the fallopian tube.’ ”

Recently, Pfeifer said, she operated on a teenage patient from Florida who had been in two hospitals “where no one had ever heard of this.”

In Allie’s case, doctors drained 17 ounces of obstructed fluid and removed the tissue blocking blood flow. Doctors left the uteri intact; surgery to unite them is rarely performed because it is unnecessary and risky.

“It may be a little tricker to get pregnant, and she may need a C-section,” Pfeifer said of Allie, whom she continues to follow, but “she should do fine.”

And she has, both Allie and her mother say. Her pain has vanished, and Allie, who will turn 19 in August, recently finished her freshman year at Bucknell University, where she is majoring in civil engineering.

Recovering from the psychological aftereffects has been a longer process.

Partridge said she told the ER doctor after the cancer scare, “I’m her mother; I should have thought of this.” The doctor, she said, replied, “You shouldn’t; the doctors should have.” Partridge said she remains “aggravated that we went to two specialists about her single kidney and no one said anything about this.”

Allie is eager to put the trauma behind her. “I think I’m definitely stronger because of everything I’ve been through,” she said. “At college, I appreciate being healthy more than other kids do.”

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