Some medical disorders are so rare, so frightfully exotic, there may only be a handful of doctors in the entire Valley of the Sun qualified to treat them. Or, sometimes, a single doctor. Meet the ultra-specialized specialists who take on the rarest ailments – or treat common conditions in the most uncommon of ways.
By the time Tatiana Richerds came to see Dr. Jamal Mourad, she had lost five pregnancies.
This time, she was carrying triplets. She suffered from cervical insufficiency, a rare condition that renders the cervix incapable of holding a fetus long-term. Without warning, usually between 16 and 24 weeks, the cervix opens, and the expectant mom miscarries.
During her fifth pregnancy, Richerds received the traditional, invasive treatment for the condition – transvaginal cerclage. Her first cerclage stitches didn’t hold, so a few weeks later, her doctor put in two more cerclages. It still didn’t work. She lost the pregnancy at 21 weeks.
As she entered the ninth week of her sixth pregnancy, Richerds was terrified. Her doctors referred her to Mourad, an OB-GYN at Banner University Medical Center Phoenix. Mourad is the only physician in Arizona who performs robotic-assisted transabdominal cerclage, a minimally invasive treatment for cervical insufficiency. He makes tiny incisions in the belly and wraps tape around the cervix, tightening it like purse strings. This can be done before or during pregnancy, and it allows expectant moms to carry their babies to nine months in more than 85 percent of cases.
But transabdominal cerclage is typically not recommended when a woman is carrying more than one fetus. So Mourad and his team scoured the medical literature, looking for any woman in the world who’d been treated with this method for a triplet pregnancy. They found nothing.
Reluctantly, Mourad told Richerds they couldn’t help her, because they didn’t know if the procedure would have any benefit. She burst into tears, knowing she would almost certainly lose three more babies. Then, Mourad recalls, she faced him with a determined look and said, “I am meant to be a mother. Please do this.”
He performed the procedure. And at 35 weeks, Richerds gave birth to triplets – one girl and two boys. “It’s just a blessing to have my babies here now,” Richerds says from her Mesa home, on the day before her triplets’ third birthday.
“On Mother’s Day, I met with the mom, the dad and the triplets,” Mourad says. “It was one of the most rewarding things I’ve ever done in my life.”
In desperate circumstances like these – when your baby is dying of a rare condition, or bacteria is eating your flesh, or dozens of doctors can’t diagnose you, or no one will give you a heart – you don’t need a regular doctor. You need a unicorn.
This is our ode to those rarities – the hyper-specialized heroes and heroines quietly saving lives, solving medical mysteries and working miracles.
Dr. John Breinholt does cardiac catheterizations on premature babies as tiny as a Coke bottle, with hearts the size of a raspberry. When he started performing procedures on micropreemies, his colleagues’ pulses quickened in fear. “I had my cath lab staff scared when these little kids would come down,” the interventional cardiologist says. “It takes a mindset change for people to understand what we are capable of doing.”
In November, Breinholt moved from Houston to become chief of cardiology for Phoenix Children’s Heart Center. He brings with him expertise in a mind-blowing method to cure a condition common in preemies: patent ductus arteriosus (PDA).
When we’re in Mom’s belly, Breinholt explains, all of us have a blood vessel called the ductus arteriosus. It allows the heart to pump blood throughout the fetus’ body and bypass the lungs, which aren’t needed inside the watery womb. Within a few days of birth, this vessel typically shrivels into a ligament. But in preemies, it often remains open. That’s PDA, and it potentially causes a range of respiratory and circulatory problems that can kill the littlest newborns.
Cardiologist Radha Gopalan & bariatric surgeon Robin Blackstone
Together, the Banner University doctors offer a rare combination of treatments: heart transplant and bariatric surgery. The aim is to put young, obese patients in heart failure on a fast track to bariatric sugery so they can quickly qualify for heart transplant.
Until recently, the only recourse for micropreemies with PDA was risky surgery. Then, about four years ago, a representative from a medical device company showed Breinholt a contraption designed for a different cardiovascular condition. He instantly knew it would be perfect for PDA. So he embarked on a new approach. He threads a catheter half the width of a red plastic coffee stirrer up through a vein in the infant’s leg. Then he inserts a device that looks like a miniscule metal mesh barbell into the PDA. The baby’s body grows tissue around the mesh, and the vessel closes.
Procedurally, this approach has a 100 percent success rate. Breinholt has performed it around 170 times – more than any physician in the country, except for one doctor in Tennessee. Now, Breinholt is coordinating with local medical centers to make the procedure available through Phoenix Children’s Hospital.
Another hyper-specialized doctor who’s pushing the envelope is Dr. Kevin Foster, director of the Arizona Burn Center. The Phoenix facility is the only burn center in the state and the largest west of the Mississippi River. Its multidisciplinary team works on the leading edge of treatments for burns and bizarre skin maladies. “We are constantly trying new things,” Foster says. “We are not satisfied with the status quo.”
For example, two years ago, Peoria resident Christin Lipinski was rushed to the trauma center with flu-like symptoms and severe pain under her armpit. Doctors did a biopsy and discovered the schoolteacher had a nasty case of necrotizing fasciitis – commonly known as flesh-eating bacteria.
This life-threatening torment is typically caused by a Streptococcus bacteria that’s harmlessly crawling on your skin right now. But occasionally – often when a person with a weakened immune system gets a cut or other injury – those microbes excrete toxins that annihilate tissues like tiny machine guns. Essentially, it’s high-speed gangrene.
To save Lipinski’s life, Foster and the other surgeons removed huge swaths of her skin, cutting down to the muscle. In a less severe case, he would patch up the wound with a piece of skin roughly the same size taken from elsewhere on the body. But Lipinski had already lost a third of her skin. With time running out,
Foster asked the FDA for special permission to use an experimental skin spray called ReCell.
With this invention, doctors can take a stamp-size piece of a patient’s skin and apply an enzyme that dissolves it into individual cells that can be misted over the injury like hair spray. The cells then grow into a new outer layer of skin. Foster had participated in studies to treat burns with ReCell, but as far as anyone knew, no one in the world had used it on someone with necrotizing fasciitis.
The FDA granted his request. Foster and his team quickly treated Lipinski with a method they developed called meshing. They sliced a patch of skin from her thigh and pierced it full of holes so it could stretch over the wound like fishnet stockings. Then they sprayed ReCell into the holes to reduce scarring. A week later, Lipinski’s ravaged tissues were 95
percent healed.
Foster is humble about his accomplishments and philosophical about the fulfilling aspects of his work. “Burn patients tend to have a reset of their priorities in life,” he muses. “Most of them end up recognizing that what they thought was important before, they no longer think is important. And they end up being different, better people.”
Dr. Ross Bremner
At St. Joseph’s Hospital’s Norton Thoracic Institute, the surgeon oversees the Valley’s only lung transplantation program.
Highly specialized doctors like Foster often see patients for years and develop strong connections with them. Visit the office of Dr. Vinodh Narayanan, and you’ll see his recent Christmas present – a picture of a pink flower painted by Shelby Valint, a patient who inspired him and the other scientists at TGen to create the Center for Rare Childhood Disorders (C4RCD).
A few months after Shelby was born in 2000, the Phoenix girl began deteriorating. It became harder and harder for her to move, talk, swallow, breathe and even hold up her head. Eventually, she attended school in a power wheelchair and communicated by touch-screen computer. For the first decade of her life, she saw countless baffled specialists and endured a battery of painful tests. No one could diagnose her.
Then she saw Narayanan. The neurologist sequenced her genome and discovered an error in a gene called DDC, which provides a recipe for dopamine, a neurotransmitter involved in movement. Shelby’s condition is so rare it doesn’t have a name, let alone a treatment. So Narayanan put her on medication normally prescribed for another movement disorder linked with diminished dopamine: Parkinson’s. The effect was like an awakening. Within three months, Shelby walked into school and talked with her amazed classmates.
But most stories at the C4RCD are not as happy as Shelby’s. Many children have conditions so obscure Narayanan has been unable to diagnose them after years of effort. But he lets no case go cold. His serene, Gandhi-esque presence belies an unshakable determination.
For example, he and his colleagues are currently studying cells from a handful of patients with an incurable gene mutation that causes horrendous epilepsy. They’re injecting the mutant gene into hundreds of zebrafish embryos so they can test drug therapies on the epileptic fish. They are years away from any potential treatment, but Narayanan emphasizes the importance of having a diagnosis, even if there is no cure.
“It’s hard to put a value on [what it means] for a parent to know what’s wrong,” he says. “It is precious. It means you don’t have to keep searching, and you can focus on how to take care of your child.”
Another physician who forms years-long bonds with patients is Dr. Madhavi Kurli, the only Valley physician fellowship-trained in both ophthalmic oncology and vitreoretinal disorders. “Patients become our family, and we become their family,” she says.
Kurli’s most memorable patient was the first person to walk in her door on the day she opened her solo practice in Phoenix. She’d just finished mopping the floor when in strolled a fit, supplement-popping, 60-something man who kindly but firmly told her he didn’t believe in doctors and didn’t think he should be there. But something suspicious had shown up when he was getting glasses. Kurli examined him and found a tumor tucked inside his eyeball.
At first, he didn’t believe her. And he had good reason to be flabbergasted. It’s not uncommon for tumor cells from the breast, lung or prostate to migrate into the eyes, drawn to their rich blood supply like microscopic, mutated vampires. But the kind of cancer this man had – uveal melanoma – originates in the eye, and it strikes only 6 in 1 million Americans.
Kurli treated him with plaque therapy, in which a gold plate studded with radioactive “seeds” is temporarily sewn onto the white part of the eye. He made a miraculous recovery. Kurli monitored him for years to see if the melanoma returned or metastasized to the liver, a common destination for traveling eye tumor cells. She was also on the lookout for blurred vision, since radiation therapy can cause delayed damage to the retina, even if the patient gets radiation in a different organ, such as the brain.
Two years after his initial treatment, the man showed signs of radiation retinopathy. His vision blurred so much he could barely count Kurli’s fingers when she held them up in front of him. So she gave him a laser treatment and injected an anti-growth agent into his eye every month, for more than two years. His vision is now 20/40.
Because of Kurli’s unique combination of specialties – eye cancer and retinal problems – she was able to treat him seamlessly throughout his journey to health. “I tell my patients,” Kurli says, “‘Imagine this is a boat, and there’s this river we have to cross for the next five years. I will take you there. I will be your boatman.’”
Another doctor with a unique combination of specialties is Dr. Susan Ponkey, the only physician in Arizona who is board-certified in both maternal fetal medicine and genetics. Think of her as a blend between Sherlock Holmes and an event planner – except these events are high-risk births.
If a couple with a family history of, say, cystic fibrosis or muscular dystrophy wants to have a baby, they consult with Ponkey. The Gilbert-based doctor determines their risks by sleuthing clues from interviews, genetic testing, medical records from relatives and more. Alternatively, if a woman is pregnant and the ultrasound reveals an abnormality such as a heart defect or clubfoot, Ponkey can use genetics and medical imaging to piece together a diagnosis.
Dr. John Breinholt
The new chief of pediatric cardiology at Phoenix Children’s Hospital does heart catheter procedures on premature babies, precluding the need for heart surgery.
Dr. Madhavi Kurli
As the only fellowship-trained vitreoretinal oncological surgeon in the Valley, Kurli treats rare retinal melanomas with a novel radio-plaque procedure.
She then prepares the couple for their future and connects them with the pediatric specialists who will care for their baby. She also coordinates with the neonatologists so if the woman goes into labor at 2 a.m., everyone in the hospital will be ready for potential complications.
Ponkey was a nurse before she attended medical school, and she’s also a mother of six. These experiences help her add sensitivity and compassion to her distinctive skill set. “I think being a mother helps me be able to understand [patients’] anguish and their worry and their willingness to do anything to help their child,” she says.
Like Ponkey, Dr. Randy Gelow combines an extraordinary sensitivity with a unique mix of medical specialties. The Banner Health doctor is the only Arizona M.D. who is board-certified in both family medicine and addiction medicine, as well as focused on HIV/AIDS and LGBTQ care. That expertise can be invaluable to patients who frequently face stigma. Whether due to religious beliefs, prejudice or lack of experience, many doctors are uncomfortable with LGBTQ patients and unaware of their particular health needs.
“When a patient senses that you’re uncomfortable or you can’t communicate in the same terms they communicate with, they’re no longer going to tell you what they need to tell you,” Gelow says. “Generally, those that deal with LGBT and HIV conditions are a little bit more open and understanding. So you can talk to them about anything.”
In addition, Gelow explains, people with HIV are often treated by an infectious disease specialist. But such physicians typically don’t offer much-needed primary and preventive care such as preexposure prophylaxis (PrEP), a daily pill that can stave off HIV infection. On the other hand, primary care doctors usually aren’t familiar with HIV drug reactions and STI screening recommendations for high-risk individuals, such as transgender women. So having one doctor with all of that know-how can greatly benefit patients.
Kristin Swanson, ph.d.
Working closely with Mayo surgeons, Swanson uses a unique mathematical method to help extend the life expectancy of cancer patients.
Close-up: Unicorn Lab Rat
It’s tempting to say that Kristin Swanson is a unicorn who works with rainbows – except the rainbows she creates are terrifying. Unlike the other doctors in this feature, Swanson is not a medical doctor; she earned a Ph.D. in mathematical biology. But as director of the Mathematical Neuro-Oncology Laboratory at Mayo Clinic, she works closely with oncologists on the front lines of health care. Swanson and her team use MRI scans and mathematical models to 3D print patients’ brain tumors and predict how the mutated cells will respond to various therapies. To demonstrate, she takes out a 3D-printed brain of a patient with glioblastoma, the cancer that killed John McCain. Across the gray brain radiates a rainbow of colored bands that represent the distribution of cancer cells. The densest part of the tumor is dark red, and each subsequent color on the spectrum indicates more and more diffuse cancer cells. This information helps Mayo’s oncologists make better decisions about how much of the glioblastoma to remove surgically. In addition, the mathematical models can reveal how rapidly the tumor is growing, indicating whether chemotherapy or radiation would be most effective. Next, Swanson and her team will combine artificial intelligence and math to anticipate the effectiveness of immunotherapies. “It’s mind-blowing,” she says.
Occasionally, two doctors combine their specialties to create a unique approach to saving lives. That’s the case with cardiologist Dr. Radha Gopalan and bariatric surgeon Dr. Robin Blackstone. For years, Gopalan had tried to find a solution for a subset of his patients – obese men and women in their 30s and 40s who were dying of heart failure. These patients were prohibited from receiving a heart transplant because their BMI was higher than 35. But they struggled to lose weight quickly, and bariatric surgeons typically won’t risk operating on people with heart failure. It was a cruel Catch-22.
In 2017, Gopalan moved to Phoenix to direct the Banner University Medicine Heart Institute. He immediately proposed joining forces with Blackstone, chief of the medical center’s metabolic and bariatric surgery program. “He said to me,” Blackstone recalls, “‘Robin, these are young people who have their whole lives in front of them… but they’re dying. So yes, the risk will be high, but we could really make a difference.’”
Together, they established the nation’s first program dedicated to offering bariatric surgery to heart failure patients. One of their patients was a soldier in his late 20s who had served in the Middle East. The man was previously refused a heart transplant because his BMI was 39. Following bariatric surgery, his BMI dropped to 29. He received a new heart and improved so much he recently told Gopalan and Blackstone he is planning a pilgrimage to a temple in Japan.
Meanwhile, another local program is providing life-saving transplants to patients that most other hospitals would turn away. The Norton Thoracic Institute at St. Joseph’s Hospital and Medical Center – the Valley’s only lung transplantation program – has been called “aggressive” for its boundary-pushing philosophy, says director Dr. Ross Bremner. They accept more marginal donors, transplant more critically ill or older recipients and retransplant more patients whose first replacement lungs failed. Yet they have one of the nation’s highest 1-year survival rates – nearly 90 percent.
“We don’t think of ourselves as aggressive; we think of ourselves as compassionate,” Bremner says in his South African accent. “We look at our recipients and realize that we’re the only folks between them and death.”
Lung transplant is complicated, but lung retransplant is “probably the most difficult operation I’ve participated in,” Bremner says. He and his team often operate for eight hours in the middle of the night, since lung donor surgeries typically occur in the evening, after all the elective operations are completed. He must navigate extensive scar tissue threaded with nerves that, if damaged, could cause dysfunction of the diaphragm – the main muscle involved in breathing.
Though outcomes have improved nationwide in recent years, lung transplant has the lowest long-term survival rate of any major organ transplant, and the median survival for lung retransplant is 2.5 years.
So Bremner was particularly heartened recently when one of his retransplant patients – a woman from Arizona’s White Mountains – showed him how well her new lungs are working. She sent him a photo of her and her sons hiking the Grand Canyon. Because clearly, the patients of unicorn doctors are often unicorns themselves.
