“But we have women scheduled to have mammograms,” she said. She explained that the van she had borrowed in the past for her traveling Health Wagon program was sold to someone who wouldn’t let her use it. I repeated my total inability to be of any possible help to her, especially at this late date. Mammogram vans don’t just grow on trees.
“We need a van. These women have masses and need films,” she insisted. As I opened my mouth to restate my position, she said, “I’m praying for you!” and she hung up the phone. I was completely dumbfounded!
I called the mammogram radiologist at my institution who confirmed we had no van and suggested calling another medical school, this one in Richmond. The Richmond school suggested the military. When I finally found who to call at military bases in Virginia, none of them could help. Finally, after dozens of random calls to community clinics, someone said there was an old van on blocks (no wheels) in Mount Rogers—some four hours away from us. By now, it was four days until we were to leave for the clinic in the mountains.
Now the miracles started to flow. The Mount Rogers Health District said yes, they had an old van, but it was not accredited and the equipment had not been used in years. But they would put tires on it and drive it to our university medical center. Our head mammography radiologist managed to get it refurbished and accredited—in forty-eight hours. Two days to refurbish a neglected, outdated van and accredit the neglected, outdated mammography equipment! I never asked how she did it and I never will ask. And two days before we went, I was coincidentally scheduled for my own mammogram at our medical center. The techs who took care of me offered, out of the clear blue, to go to Wise with me two days later to run the machinery and perform the mammograms!
Somehow, we managed to get the van and all the volunteers to the abandoned mountain airport hangar. The ancient machinery worked fine through Friday and Saturday, finally giving out on Sunday morning, but not before thirty women and a couple of men with breast lumps had their mammograms. Because of this confluence of small miracles to make one giant one, four women and one man with early breast cancer were detected and successfully treated. All did well.
The miracles didn’t stop with that one clinic. As a result of our experience and Sister Bernie’s persistence, our university medical center bought the van, completely updated it with new mammography equipment, and drove it all around the state serving underprivileged patients for three more years. That was so successful, they bought a new, better van and used that for another four to five years. They are now on their third van with state-of-the-art equipment. Countless lives have been saved by those vans.
For me, the moral of this story is that if Sister Bernie prays for you, shut up and get busy, because the miracles are gonna happen—and they’re gonna happen fast.
Date of event: 2005
He Was Lucky He Had AIDS
Mark F. Cotton, MMed (Paed), PhD
Barbara Laughton, MBChB, DCH, MSc
We had been planning this study since 2001, developing methods for conducting a treatment trial in babies born with HIV (human immunodeficiency virus) infection, the virus that causes AIDS (acquired immune deficiency syndrome). The study was to evaluate which approach to treating these babies was most effective—early (soon after birth) therapy for a limited time, versus deferring therapy until the signs and symptoms of AIDS develop. The latter approach was our standard at the time. You might ask, “Isn’t earlier therapy always better?” Well, not always. It’s possible that the side effects of medicines could make earlier therapy in younger babies more dangerous. Or maybe treating before the signs and symptoms of AIDS develop would be less effective than hitting the infection hard as soon as symptoms occurred.
But there was also another overriding issue—South Africa, where we care for babies with AIDS, has an impoverished public sector with very limited resources. Patients able to pay for expensive treatments could get them, but most patients were dependent on government clinics and resources. A limited course of therapy might be more cost-effective and consume fewer resources than long-term treatment started once symptoms began. And if it was more cost-effective, we could treat more children. But if we found that early therapy was more effective, could we then stop it after a limited amount of time and still see benefit? We didn’t know. If not, most patients would only improve for the time they were on medicine, and when the funds for the medicine ran out, they would worsen and could die. If we started treatment only after signs of the disease began, perhaps the same limited course of medicine would allow survival to an older age. The answers weren’t clear to us at all, hence the research study.
The study finally began in 2005, and it showed that early therapy, even for a limited time, gave better results for these babies. That was a very important find-ing and helped us plan treatment for tens of thousands of HIV-infected babies in Africa, for whom our resources were limited and had to be used judiciously.
But that wasn’t the miracle.
One of the devastating effects of AIDS in babies is impairment of brain function. As part of the study at our clinical trial site in Cape Town, we sought to determine the neuro-developmental impacts of the two different study approaches (early versus deferred treatment): how did the babies do in their childhood development: their ability to move around (locomotor skills) and coordinate precision movements (fine motor skills); interactions with their environment (personal-social skills); hearing and language development; hand-eye coordination, and their ability to think and reason. Once again, our study found early therapy had a better outcome on babies’ brains than waiting for signs and symptoms of AIDS to occur before beginning treatment. That reinforced our commitment to early therapy.
But that still wasn’t the miracle.
The miracle is the story of one little HIV-infected baby in this large and complicated research study. This little boy, Isaiah (not his real name), had a bigger head than normal but otherwise was well when he entered our AIDS treatment study. However, he started having seizures, and the vigilant study doctor ordered a brain scan, which showed unusual features suggesting this baby had something called an inborn error of metabolism, or IEM. An IEM means the chemical systems usually responsible for processing the food we eat and generating the energy and building blocks we need to survive have gone awry. In much of the Western world, especially now, routine screening of all newborns for inborn errors is conducted. That’s because recognizing these defects early in life, before the ravages of the mistaken chemical reactions can take place, can save babies’ lives and protect their brains. Mental retardation and severe developmental delays are the usual outcomes of babies who survive IEMs. But in South Africa at the time, and in much of the underdeveloped world still today, the luxury of screening for rare diseases doesn’t exist. Babies in South Africa in 2005 were not screened for IEMs. (Unfortunately, that remains true as we are writing this in 2015.) Only this baby was screened, because he had HIV infection and was in our AIDS research study, where he was noticed to have abnormal features suggesting an IEM.
AIDS and IEMs are unrelated to each other—one doesn’t cause or predispose to the other. Both damage babies’ brains, but in different ways. It turned out this baby had both. Isaiah was tested and discovered to have an IEM called glutaric aciduria type 1. This is a treatable disease, but only if it’s recognized early. In South Africa, it’s rarely if ever recognized early. Untreated, it causes toxic buildup of chemicals in the brain, causing developmental delay, seizures, abnormal muscle tone, and movement disorders that resemble cerebral palsy. Treatment is actually easy and relatively cheap: mostly nutritional, avoiding foods containing chemicals that cannot be processed correctly because of the defect, and supplementing with other foods to provide adequate nutrition. This is especially important at times of metabolic stress such as during fevers. When glutaric aciduria type 1 is treated early, the results are very favorable.
Isaiah was treated early for both his HIV infectio
n and for his IEM. His AIDS was treated with three effective medicines provided for him early in his life as part of the research trial. His inborn error was also treated early, but only because he was “lucky” enough to be infected with the virus that causes AIDS and to have been noticed to have a large head and seizures during his evaluation for the AIDS study. Isaiah did well on both counts, controlling his AIDS and his IEM.
A study published in 2010 reviewed the outcomes of more than a dozen kids diagnosed with glutaric aciduria type 1 in South Africa once reliable testing became widely available around 2008. All but one of those babies who, like Isaiah, was by chance diagnosed early (not as part of an AIDS trial, but as part of a different research trial), were devastated by the defect. We believe Isaiah and that other baby are the only children born in Africa with this IEM prior to 2008 who turned out neurologically normal.
Yes, Isaiah was lucky he was infected with the AIDS virus.
For more information about the research on the best approach to therapy in South African babies born with AIDS, see:
MF Cotton, A Violari, K Otwombe, et al. Early time-limited antiretroviral therapy versus deferred therapy in South African infants infected with HIV: results from the children with HIV early antiretroviral (CHER) randomised trial. Lancet 2013; 382: 1555–63.
B Laughton, M Cornell, D Grove, et al. Early antiretroviral therapy improves neurodevelopmental outcomes in infants. AIDS. 2012 Aug 24; 26 (13): 1685–90.
For more information on glutaric aciduria type 1 in South African children, see:
G van der Watt, E Owen, P Berman, et al. Glutaric aciduria type 1 in South Africa—high incidence of glutaryl-CoA dehydrogenase deficiency in black South Africans. Molecular Genetics and Metabolism 101: 2010. 178–182.
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Impossible Cures
There is one situation where doctors are thrilled to be proven wrong when we have told patients and families that recovery was impossible, only to discover, in time, that things turned out miraculously better than we expected. Not every dire diagnosis follows its expected course, and not every inevitablity is inevitable, giving reason for hope to those receiving the diagnosis—and to those of us giving it.
This chapter includes stories of astonishing cures from cancer, severe infections, and mysterious illnesses for which no cause could be found. The patients described in these essays were expected by their doctors to die or suffer permanent disability, yet all of them defied those expectations. To this day, we don’t know how.
Date of event: October 2004
A Gift to Others Becomes a Miracle for Their Child
Rodney E. Willoughby, MD
Fifteen-year-old Jeanna was sitting in church with her mother when parishioners were startled from their worship by a bat that started swooping around overhead. Bats are nocturnal creatures, and this one was likely attempting to get back outside when a man swatted it to the ground. Jeanna loved animals (except spiders) and wanted to help the bat, so she picked it up by the wing tips to release it outside. As she set it free, however, the bat bit her left index finger.
Back at home, Jeanna’s mother put peroxide on the wound. Thinking that would be enough to prevent an infection, nobody talked to a doctor. One month later, Jeanna was playing in a volleyball tournament but felt washed out. She developed fever and double vision, and she became less alert. She was admitted to the hospital on a weekend, and shortly thereafter began to have involuntary jerking of her left arm.
Her regular pediatrician had the weekend off, but he visited her in the hospital that Monday. She was rapidly worsening, so he arranged for transport to our university hospital ninety minutes away, where she could be seen by all the appropriate specialists. He then did what all good doctors do when things aren’t going as expected—he took another history of her illness in case the other doctors had missed some key piece of information. He was the first to learn about the bat bite that had occurred a month earlier, so he called our transport physician with this new information. The transport physician, in turn, called me from the command center to ask whether we should consider rabies. Rabies is a lethal virus infection usually transmitted by bites or other contact with infected animals. Despite practicing as an infectious diseases doctor for twenty years, I had never seen a patient with rabies, but I did know rabies patients always died. Always. I suggested that the transport team use personal protective equipment just in case, to avoid the need for rabies shots. I organized the hospital tests to quickly exclude rabies, a diagnosis I doubted, so we could get on with treating whatever it was she “really” had. We sent the rabies tests off that same day to the Centers for Disease Control and Prevention (CDC) in Atlanta, expecting an answer late the next day.
That night, Jeanna started salivating profusely, requiring insertion of a tube into her windpipe and connected to a machine to support her breathing. Her disease course began to sound more and more like rabies, so I did some reading in between seeing other patients. The medical literature discussed the fact that there was no actual damage to the brain despite the very violent brain activity triggered in the clinical disease we call rabies. I came across a paper from the world-famous Pasteur Institute in Paris. (Louis Pasteur invented milk pasteurization, and also the rabies vaccine in the 1880s. Rabies vaccine protects people who have been exposed to rabies, but does not treat patients like Jeanna who are already infected.) That article used ketamine, a general anesthetic, with good effect against experimental rabies in rats. Because rabies was so medically violent, causing brain hyperactivity capable of stopping the heart in an instant, it seemed wise to suppress brain function to avoid this complication. Ketamine seemed to be the right drug to use for general anesthesia during rabies, although it had never been tried before in humans.
Several articles in the medical literature described “near misses”—patients who almost survived but died of complications attributed to medical care. These near-miss patients appeared to have cleared the rabies virus from their bodies by themselves after one to two weeks. So I decided to use ketamine anesthesia on Jeanna in hopes of protecting her brain until her own body could clear the virus by itself, in a week or two.
The idea seemed simple—really, too simple. Why hadn’t it been tried before? Most made-up-on-the-spot medical treatments cause grievous harm. When the diagnosis of rabies was confirmed by the CDC that next afternoon, we assembled seven experts in brain diseases, infections, and critical care. I proposed my idea to the physicians, intending to stop right there if any of my experts thought our plan would cause harm. We agreed to offer our strategy to Jeanna’s family as the third of three options. The first option was conventional care, which had never worked in rabies; the second option was hospice care to speed her passing without pain or suffering.
Her parents understood the terminal diagnosis for Jeanna, and listened to our options of standard or hospice care. They asked for another option. We explained our theory that had never been tried before, even in animals other than rats. To my great surprise, they selected the third option, an untested experiment, “So that maybe we might learn something to save the next child.” We were greatly humbled by this selfless gesture from Jeanna’s parents who, despite being distraught over their daughter’s condition, were thinking ahead for others.
We immediately sedated Jeanna with ketamine to the point of coma, and planned to wait and observe for a week. While I was writing the plan for her care, a very pleasant priest in civilian clothes arrived by her door and asked if he could pray over her. I helped him into appropriate protective clothing: a gown, mask, gloves, shoe covering, and head covering. A little while later he thanked me and went on his way. Still writing in her medical record twenty minutes later, I was approached by another priest who identified himself as the pastor of the church where she had been bitten. He asked if he could pray over her. I responded in jest that somebody just had, but that we could use all the prayers we could assemble. He then aske
d who had been by earlier, and one of the nurses responded, “Oh, Bishop Dolan.”
Rather than the tumultuous and terrifying neurologic and other organ system failures caused by the severe brain dysfunction characteristic of most patients dying of rabies, the days passed uneventfully for Jeanna. After a week, we repeated our studies on rabies to confirm that her immune response to rabies had developed. It had, so we stopped her sedation.
Her brain wave tests immediately improved, and her pupils constricted to light, a good sign, but nothing else worked. She was fully paralyzed and showed no response to touch or voice. I was devastated, thinking that I had created a situation worse than death. This is called being “locked in,” meaning you are aware and thinking, but cannot move and are restricted to communication by eye blinks. Two days later, she appeared no better. Then another doctor caring for Jeanna told me she had detected leg jerks when tapping her knees with a reflex hammer. I rushed to Jeanna’s bed and indeed the reflexes were there! Every day after that, Jeanna made a new step toward her eventual recovery. She improved at a pace far faster than I’ve ever encountered with other brain infections.
Still, her recovery was long, hard work. She had to come back from full paralysis, learning to walk, talk, and eat all over again. Remarkably, she caught up with her high school studies with a tutor over the summer months, and started school with her same classmates that fall. Four years later, she was the first in her family to graduate from college. Today, Jeanna is indistinguishable from anyone else you might see on the street. She still loves animals and is an advocate for bat conservation. She is due to be married this next fall.
Jeanna was the first patient ever to survive rabies infection. Modified versions of the therapy we used for Jeanna have since been used for other patients with rabies, as Jeanna’s parents had hoped when they courageously and generously chose “option three,” and have resulted in additional cures. Was it her medical treatment or the power of prayer that was behind her survival? Some things we may never know. We do know that by releasing Jeanna for the benefit of others, her parents got her back.
Miracles We Have Seen Page 8
