Spina bifida and recurrent UTIs: Sarah Sharp's story

Recurrent urinary tract infections (UTIs) are a pain to deal with on their own. When complex medical conditions and history enter the picture, they can become a life-threatening problem. Take it from Sarah Sharp, a Nashville, TN-based advocate for those living with a condition called spina bifida.

Sarah has allowed us to share her story to help reach other patients who may be grappling with chronic healthcare challenges.

Growing up with spina bifida

Sarah was born in Brookfield, Wisconsin. Like most people living with spina bifida, Sarah was diagnosed at birth. Spina bifida develops when a fetus's spinal column does not fully close in the early months of pregnancy, leaving the spinal cord and related nerves open to damage. This can lead to lifelong health challenges, which Sarah has experienced her whole life.

Her early life was spent in and out of the Children's Hospital of Wisconsin, where she underwent more than 10 surgeries to address issues caused by spina bifida, including neurogenic bladder, a condition where communication between the brain, spinal cord, and the bladder is disrupted, affecting bladder function. Following these procedures, she would be required to use a urinary catheter for the rest of her life.

For Sarah, childhood was a daze. She was continuously denied Medicaid coverage for her urinary catheters, which made it challenging for her family to afford them. At the misguided recommendation of one of her hospitalist physicians, her parents were informed that it would be acceptable to reuse her catheters. Often sick and lethargic, her providers at the time believed her urinary symptoms were caused by her spina bifida. "Anytime I went to the doctor, it was almost as if my symptoms were only caused by the spina bifida and there weren't any other possibilities. I think during this time I was actually experiencing recurrent UTIs from reusing catheters," Sarah recalls.

Because the nerves of the urinary tract may be dysfunctional, pediatric spina bifida patients may not feel the burning sensation that often points toward a UTI. The Spina Bifida Association notes that children may be very fussy or very sleepy, have lower activity than usual, experience a decrease in appetite, or have out-of-the-ordinary urinary accidents, matching Sarah's description of feeling dazed and lethargic throughout her early life¹.

Diagnostic difficulties with multiple complex conditions

Sarah began to reckon with her complex medical history as she entered adulthood. She pursued higher education, learned about her medical conditions, and began to connect with the broader spina bifida patient community while managing her chronic health issues.

For several years prior to starting her graduate studies in thanatology, the interdisciplinary study of death, dying, and grief, Sarah began experiencing pain, bleeding, and drainage near her tailbone that many doctors believed to be a complication related to spina bifida called "tethered cord," where the lower end of the spinal cord is stuck or anchored to the spinal canal rather than floating freely. Shortly after beginning her master's program, the pain, bleeding, and drainage became so severe that Sarah sought emergency care.

The cause? A pilonidal sinus that had gone undiagnosed for years. The sinus had extended remarkably deep from the tailbone to her spine and required surgical intervention to treat it. She was prescribed three antibiotics and a surgery was scheduled, beginning a nine-year journey across two states and three hospital medical systems to resolve her symptoms once and for all.

"I was studying illness, loss, mortality, and the experiences of people navigating life-altering medical circumstances while simultaneously living through many of those realities myself. This experience has shaped not only how I understand healthcare, but how deeply I value being believed, having someone advocate when a situation is complicated, and being treated as a whole person rather than a collection of diagnoses."

Her first pilonidal surgery was performed in 2010, following which she developed a severe Clostridioides difficile, or C. diff, infection in her gut that left her profoundly ill. C. diff infection following surgical procedures is not uncommon, as the use of broad-spectrum antibiotics before and after the procedure can disrupt the gut microbiome²⁴. After spending months wearing adult diapers and sleeping in her apartment's bathroom, Sarah sought out a physician with specific expertise in treating difficult C. diff infections.

By 2012, Sarah had recovered enough to undergo a tethered cord release. The surgery was a success, alleviating severe back pain and worsening mobility that had affected Sarah for much of her adult life. But the pilonidal sinus issue came back. In fact, as many as 40% of people who have surgical intervention for a pilonidal sinus will experience a recurrence³. This recurrence led to two additional surgeries, the first of which left Sarah with lasting major gastrointestinal complications.

"This experience fundamentally changed the way I think about antibiotics. Having come so close to a life-threatening complication from antibiotic exposure, antimicrobial stewardship and resistance would become deeply important to me years before I could have imagined how relevant those issues would become again."

Bladder augmentation and ileostomy

Despite the onslaught of medical complications, Sarah finished her degree and entered the workforce. She moved from Wisconsin to Nashville, Tennessee, where she had received a job offer and met her now husband.

The complications from her second pilonidal sinus surgery were making life unbearable. With an ileostomy under consideration, Sarah searched nationwide for a care team that would take her on given her complex medical history. It was at the Cleveland Clinic that larger considerations about Sarah's health were taken into account, not only to address the GI-tract complications, but to address the long-term health of her kidneys as well.

Her providers proposed a bladder augmentation, a Mitrofanoff procedure, and an ileostomy. The plan was to use the portion of the colon replaced by the ileostomy bag to enlarge the bladder and create a new channel for urine to exit the body. Performed together, these procedures would correct urinary incontinence while addressing the previous GI-tract complications. Given Sarah's history, she feared that C. diff from her gut may end up in her newly constructed bladder. But she was advised that her current level of urinary function would ultimately place her kidneys at significant long-term risk.

In January of 2023, she made the challenging decision to move forward with the procedures. The surgery was by and large successful. Her previous GI-tract complications had been resolved and the function of her bladder improved. However, around four months into her recovery, a new complication arose: kidney stones.

Recurrent and complicated UTIs: an uphill battle

Sarah had developed an infection with Klebsiella pneumoniae, a bacterium commonly found in the human gut that is known for biofilm formation and can also contribute to the formation of kidney stones. Whether the infection originated in the piece of her colon used for her bladder, was acquired during stone removal, or had been introduced via a urinary catheter is difficult to know for certain. But this initial infection marked the beginning of a prolonged period of recurrent UTIs caused by multidrug-resistant K. pneumoniae.

In Nashville, she cycled through three different urologists, the only urologists she found who were willing to see adult patients with spina bifida. With those practices overwhelmed and overbooked, getting an appointment when UTI symptoms appeared proved challenging. Waiting days for test results increased her risk of ending up in the hospital.

Like most UTIs, Sarah's infection was confirmed via standard urine culture, a type of test that attempts to grow pathogens from urine under certain laboratory conditions. Bacterial colonies that grow are isolated and identified. Depending on what the ordering provider requested, antibiotic susceptibility testing may be performed on the bacteria to determine which antibiotics may work. This is an important part of antimicrobial stewardship, which helps improve patient outcomes while also maintaining the effectiveness of our antibiotics for society.

Sarah's provider had ordered antibiotic susceptibility testing. The results revealed that the K. pneumoniae strain found was only susceptible to last-resort antibiotics that had to be administered intravenously or through a peripherally inserted central catheter, or PICC line.

"Given everything I had already experienced with C. difficile and antibiotics, this was particularly frightening. I became increasingly focused on finding ways to reduce my reliance on antibiotics whenever medically appropriate. Alongside my medical care, I began a regimen that included D-mannose, cranberry supplementation, and NAC. Over time, I finally found a measure of stability, and I have now gone more than a year without requiring antibiotics for a urinary tract infection."

Through seemingly endless interactions with the healthcare system, Sarah eventually found an excellent care team to help manage her recurrent UTIs. Her providers are all part of Vanderbilt University Medical Center and include physicians across primary care, infectious disease, and urology. Rather than writing a prescription any time UTI symptoms arise, the providers practice appropriate antibiotic stewardship: waiting for pathogen and antibiotic susceptibility testing results to determine the best course of action. Through this, Sarah has been able to get the frequency of her recurrent UTIs under control, but that is not stopping her from pushing for better.

Spina bifida and UTI patient advocacy

Sarah's incredibly challenging and complex health experiences transformed her. Throughout her journey, she learned as much as she could. She used AI tools to fill in the gaps in her knowledge. She requested paywalled research articles from her providers. She attended conferences with them. And through it all, she became a fierce advocate not only for her own health, but for people living with spina bifida and recurrent UTIs more broadly.

Sarah came to know Biotia through her patient advocacy work. This past March, Sarah attended the Urinary Tract Infection Global Alliance's (UTIGA) annual conference, bringing together clinicians, scientists, and patient advocates committed to improving UTI patient care. After serving on a panel, she connected with Biotia's telehealth partner, Clinova Solutions, and contacted us to learn more about the BIOTIA-ID Urine Test. Sarah received an at-home collection kit, sent in a urine sample, and scheduled an appointment with Dr. Adam Bonder to go over her results.

"Meeting with Dr. Bonder to discuss my test results was truly amazing. It was the first time I felt like someone was thoroughly explaining what my test results meant and what my options were. I wasn't just told what to do."

Her test results confirmed what she and her providers already knew: her bladder had been colonized with a multidrug-resistant strain of K. pneumoniae. What had required seemingly endless doctor visits and lab tests to determine may have been answered through a single clinical metagenomic-based test, if only access to this type of testing were more readily available.

"Sarah's story reflects what too many patients with complex medical histories experience: their infections do not fit neatly into the assumptions built into conventional diagnostics, and they pay the price in delayed answers and avoidable hospitalizations. We built the BIOTIA-ID Urine Test to close that gap, using clinical metagenomics to give patients and their clinicians a comprehensive, unbiased view of what is actually present, so the right treatment decision can be made sooner rather than after months of trial and error."

Stories like Sarah's are not few and far between. Disparate access to healthcare, inconsistent care coordination, and a reliance on outdated diagnostic tools are leaving chronically ill patients and their providers with few places to turn when complex infections enter the clinical picture. This is why Biotia created the BIOTIA-ID Urine Test: to deliver more comprehensive insights to patients and their providers when complex medical histories make accurate diagnosis more difficult.

From feeling helpless to feeling hopeful

These days, Sarah continues her work as a patient advocate, focusing on educating the parents of children with spina bifida to make generational change. Importantly, she recommends not taking things at face value. It is easy for providers to suggest that urinary symptoms are due to spina bifida rather than thoroughly ruling out other conditions, such as UTIs. Sarah is also highlighting the importance of participating as a research subject to advance the field.

"Participating in research gives my suffering meaning. Even if the research doesn't result in something that directly helps, like a new drug, knowing that I was able to help advance our understanding of spina bifida and UTIs even a tiny bit gives me hope for the future."

And we could not agree more. Biotia continues to advance the field of clinical metagenomics through rigorous scientific and clinical research, with the goal of obtaining insurance reimbursement for the BIOTIA-ID Urine Test. It is our belief that patients should not have to pay out of pocket in order to get highly accurate and comprehensive diagnostic testing. Through our research, we hope to demonstrate that using this advanced technology can help patients like Sarah receive a more timely diagnosis and prevent the cycle of doctor appointments and laboratory testing she went through to get an answer.

There is much work to be done. But the future is looking hopeful.