Tiny Patients, Huge Difference

Pathology is in high demand. Many laboratory medicine specialists are heading for retirement and few new recruits are entering the field, so numbers are dropping. Not all subspecialties are equally troubled, but I know pediatric pathology is suffering from a dearth of new members each year, for which there are several possible reasons. Many pathologists don’t realize it’s a separate field at all, and those who do often don’t see the appeal. Why choose a subspecialty where the patients are so different to the adults you trained upon, and where you must regularly face tough subjects, such as chronic disease and death investigations in children? But the reality is that pediatric pathology is a vital part of our work; nowhere in the Hippocratic Oath is it written that our healing art is for adults only. So what does the job of a pediatric pathologist really involve – and how can we draw others to the field?

Pediatrics in peril

My department at Sheffield Children’s Hospital services 2.5 million people. There are fewer than 50 pediatric pathologists in the entire UK, and many of those work only part-time. When I joined the department in 2003, we only conducted 20 coroners’ post-mortems a year. Now, because our team is so highly qualified and has so much experience, we have a much wider catchment area that yields about 90 post-mortem pediatric coronial examinations per year, covering East and West Yorkshire, Humberside, North Lincolnshire, Nottinghamshire and Derbyshire. In the last decade, we have done at least 950 pediatric coroners’ post-mortems – in addition to all of our other post-mortem examinations. I have a very talented team, but even so, we can’t keep increasing our workload indefinitely. We need more pediatric pathologists.

We must put pathology back into medical school – something I feel very strongly about, which is why a significant part of my professional life involves teaching and training. We need to promote pathology; we need to educate our colleagues; we need to network; but most of all, we need pathology to become a significant part of modern medical school curricula. Medical students are not exposed to enough pathology in general, meaning that pediatric pathology is hit especially hard. As in many areas of medicine, children are often treated as “small adults,” with guidelines for their care being no different to those developed for adults – but this is absolutely wrong, and can even compound existing problems. Pediatric pathology is a niche discipline, and an expensive one, but it’s clearly vital and deserves far more attention in medical education and specialty training.

The European Society of Pathology (ESP) has a number of working groups, including several that deal with children’s health issues. In a recent and very successful approach, the ESP has made a commitment to having its working groups organize meetings jointly. For example, we have recently addressed pediatric soft tissue tumors with the overall soft tissue working group, and focused on interstitial lung disease in children with the lung working group. Because of my interest in post-mortem microbiology, we recently signed an agreement between the ESP and the European Society of Clinical Microbiology and Infectious Diseases; going forward, we’ll work together to tackle issues that affect both organizations.

Every aspect of pathology is reflected in pediatrics, so it’s truly a “Renaissance subspecialty,” and that puts us in a great position to share our expertise. By networking and interacting with special interest groups, we become more visible – and visibility, I hope, will make other medical professionals aware of what we do, and perhaps even attract new pathologists to work in pediatric care.

Sharing expertise

I specialize in pediatric death investigation, and whenever I’m asked to present on issues like bereavement or consent to post-mortem examination, I immediately agree. I help younger pathologists learn to conduct post-mortem investigations in children, how to sensitively obtain consent from families, the vagaries of the Human Tissue Act, and so on. My colleagues and I also train police family liaison officers – the people assigned to work closely with families after sudden infant death. It’s important for them to understand what we do – and vice versa, of course – so that we can work as a team to deliver better service. In addition, we offer general training for our users; for instance, we conduct a biennial study day to update obstetricians, pediatricians, nurses and midwives on our own services, paperwork, and general consent issues.

We are also very lucky to be able to offer a unique post-mortem MRI service at Sheffield Children’s Hospital. We have two special researchers: Elspeth Whitby, who obtained her doctorate in fetal magnetic resonance imaging (MRI), and Amaka Offiah, who is a leading radiologist in skeletal dysplasia. In 2012, the three of us sat down and developed a business case for something completely innovative – the clinical provision of post-mortem MRI. We disseminated our clinical innovation project among obstetricians and started working with radiology to offer it as an option to parents who don’t want a traditional post-mortem examination. Some aren’t comfortable with the invasive nature of autopsy; some have cultural or religious reasons for declining it; some simply prefer the aesthetics of our procedure. It became a popular enough service that we later incorporated another keen pediatric radiologist, Ashok Raghavan. In 2015, we received the British Institute of Radiology/Bayer’s Make it Better Award for “best improvement in an aspect of service delivery,” and specifically for improving the patient experience – making the pathway less invasive, reducing delays, and improving the patient environment. Our method may not be the gold standard for pediatric post-mortem examination, but with our pathologic and radiologic findings combined, we can identify a relevant condition at death in at least 86 percent of cases. The traditional post-mortem has remained unchanged for a century, but pathology itself is changing – staff shortages, new technologies, cultural shifts – and our death investigations need to keep pace.

The perfect pediatric post-mortem

I have always had an interest in forensic pathology but, during my training, I learned that many countries have no regulations regarding the investigation of sudden infant death. I think it’s important to look into the circumstances of unexplained deaths – after all, that’s how we gain the understanding that helps us to prevent future occurrences – so I began researching the topic. That’s what I was doing in 2003 when I moved to Sheffield to fill a vacancy in pediatric pathology. It was a fateful move; within the next year, the Human Tissue Act was established, Baroness Heather Kennedy launched her report on the investigation of sudden unexpected death in infancy, and I was made head of my department. (The latter is significant because it meant that I was responsible for putting standard death investigation protocols into place – and then helping other hospitals do the same thing.)

Since those protocols were established, we’ve learned a great deal about sudden infant death. Two colleagues and I are currently presenting our findings on babies who have died of SIDS and demonstrate abnormal fatty oxidation in fibroblast culture. We believe this is due to as-yet unknown mitochondrial abnormalities on the respiratory chain; there are so many genes and enzymes in the mitochondria that we have barely scratched the surface. We are also identifying abnormalities in the hippocampus that have been linked to what we previously believed were harmless febrile convulsions – but we now know that babies with these convulsions have a higher risk of sudden death. That has led to much more thorough examination of the hippocampus during post-mortems. And we are collaborating with Daniel Rubens and Jan Marino Ramirez of the Brain Research Institute in Seattle to investigate the potential role of abnormalities of the inner ear and vestibular nuclei in cases of sudden infant death. There are so many things like this – brainstem abnormalities, unusual metabolic symptoms, subtle microbiological and toxicological findings – that have always been there, but we didn’t know to look for them until recently. The 21st-century post-mortem will not necessarily have to include a full autopsy: blood and skin samples (for molecular genetics and metabolic investigations), a full-body MRI, and a thorough clinical history to identify risk factors for SIDS would help solve about two-thirds of the currently unexplained deaths in children.

What is the ideal post-mortem after an unexpected death in infancy? That remains to be determined. In the UK, at least, I expect that the Royal College of Pathologists will take a leading role in setting the standard. I’m currently involved with a team from NHS England focused on the commissioning of perinatal post-mortem services – although post-mortem MRI will not yet be included – but I think we need to learn what other departments are doing and help disseminate that knowledge. After all, even the most brilliant innovation will have trouble gaining traction if only one group tries it!

It’s also vital for us to step outside of our own area of expertise and explore the interface of different, but allied, disciplines, so that we can communicate with our colleagues in other departments. For instance, I work closely with the radiologists, metabolic team and geneticists at my hospital. We are part of the same diagnostic division, so we’re able to have frequent meetings with them to figure out how to do the best possible job. What can we improve? How can we help them with their tasks? How can they help us with ours? They have the know-how and we have the cases, so we need to work together to define the perfect post-mortem.

The challenge of the courts

I first heard the term “shaken baby syndrome” in 2004. I didn’t have a clue what it meant, because I had just moved to the UK from Argentina – and we don’t have shaken babies in Argentina; it is very much a diagnosis driven, originally, by some forensic pathologists in North America and the UK who considered that the triad of subdural hemorrhage, retinal hemorrhages and encephalopathy – in the absence of fractures, bruises or any other evidence of trauma – is prima facie diagnostic of child abuse. This approach has not really taken off elsewhere. My new colleagues explained to me that the symptom triad was due to ruptured bridging veins in the brain, although others suggested that it could also be due to bleeding in the dura mater. As I had never seen it under the microscope, sampling of the dura mater became part of my post-mortem protocol, so that I could understand what they were describing. Eventually, I found a pattern of bleeding in younger babies who had been resuscitated and had experienced a period of hypoxia and raised intracranial pressure. I also found that some babies bled more than others, or seemed more vulnerable to that type of injury. We don’t always know why, but that’s part of the reason we conduct these investigations; the more we can learn about biological differences, the better we will be able to help others in the future.

This concept of not being all-knowing is also important when, like me, your findings have to go beyond the walls of the hospital. As a pediatric pathologist heavily involved in death investigation, I am sometimes asked to go before family courts or the Crown Court in very challenging cases. Unfortunately, the nature of the courts is that everything has to be black and white; everything has to be true “beyond a reasonable doubt” or “on the balance of probability.” But science consists of uncertainty! In this matter, at least, science and the law are on different tracks. And that’s a problem – because when scientists don’t feel comfortable interacting with the law, they decline to do so, which leads to a lack of experts in the complex medico-legal system. It’s why I have withdrawn to some degree. The court system requires you to answer in absolutes – yes or no; black or white – and that, to me, is impossible in some cases.

Ten years ago, there was an investigation into pediatric forensic pathology in Ontario, Canada – the Goudge inquiry. To summarize, there was one pediatric pathologist, Charles Smith, who handled all of the forensic cases. Essentially, his word was law. But a problem arises when the courts are limited to just one or a few experts: if those few are wrong, innocent people can be imprisoned. In Smith’s case, the issue is described in the report (1) as “a cautionary tale of the devastating impact that flawed forensic pathology and irresponsible expert testimony can have.” After the review, innocent people who had been blamed for the deaths of children were released from prison – but, by then, the damage done to their lives and reputations was, in some cases, irreparable.

It goes without saying that no doctor or scientist should ever minimize the responsibility they are given when called before the court – but, at the same time, it is difficult to marry that responsibility with an uncertain diagnosis, or a symptom that has many possible causes. I know that I cannot change the system, so I choose to play my part through research instead of by being an expert witness. One day, I hope that my work will inform the law – and I will have helped without compromising my own ideals.

Whether your interest lies in the laboratory or the law, pediatric pathology is a varied discipline with a place for everyone. It’s my hope that, with a more extensive introduction to pediatrics, more new recruits will choose this field – and that, eventually, we will be able to make both the healthcare and the legal systems a better place for children and their families.