/s3/static.nrc.nl/images/gn4/stripped/data97378512-27184f.jpg "Opinion | Knowledge of rare diseases would save a lot of unnecessary suffering")
Baby Jayson was born in a Dutch hospital with Hirschsprung, a congenital disorder of the large intestine that prevents a child from defecating or not defecating properly. Jayson’s father Daniel himself has Hirschsprung, a disease that is not very common: “When I was born, nobody knew what I had. That must not happen to my child,” the father told the obstetrician and hospital doctors before the birth. Despite that warning, despite the fact that Jayson hadn’t had a bowel movement after birth, the county hospital sent mother and child home the day after giving birth. There was nothing wrong with Jayson, they were assured.
Each year in the Netherlands, approximately 35 to 40 children are born with Hirschsprung’s disease. Because the baby cannot pass his stool, the intestine becomes blocked. The child gets hurt, starts spitting, cries. Flushing the bowel helps release the stool, preventing complications. If this does not happen, the stool accumulates and the intestine can perforate. A life-threatening infection develops in the abdomen. It is not known how many children die from the disease, but every child who dies due to an incorrect or late diagnosis is one too many.
Prevent
Jayson’s story is the story of many people with a rare disease. Since they occur infrequently, the patient is not diagnosed in a timely manner. It seems like a problem that only affects a small group, but together there are more than seven thousand rare diseases and more than a million patients. Patient umbrella organization VSOP stands up for the Dutch who are victims of it; including eight thousand children per year. From the report Sharper view on diagnostic delay the experiences of parents show how they often go unheard and what suffering the long search and the often incorrect diagnosis cause (a careful assessment in consultation with the Association of Pediatrics, Section of Hereditary and Congenital Disorders).
Read also: Eight lessons I learned while my newborn was in the hospital
Baby Jayson was “lucky” that his father knew what Hirschsprung was. When his son still had no stools at home two days after birth, and was crying and spitting up loudly, he also managed to convince the maternity nurse of the seriousness of the situation. They rushed back to the district hospital. Only after insistence was the family referred to a specialized children’s hospital. Jayson had life-saving emergency surgery that same evening.
Jayson is now four and has already had dozens of minor and major surgeries. His parents still have to flush him daily and have spent a long time stretching the scar tissue, which is a very painful and emotional treatment. Some of this suffering could have been avoided if the knowledge exchange about Hirschsprung had simply been better.
Alarm bells
It is of course impossible for general practitioners, paediatricians, midwives and other primary care providers to have up-to-date knowledge about all rare disorders. That is why early detection and findability of knowledge are of vital importance. Children like Jayson depend on the willingness to invest in knowledge and on new procedures in case of complications. For example, it must become self-evident that in the case of a family history of a rare disease such as Hirschsprung in the hospital, all alarm bells will immediately go off. There are six teaching hospitals in the Netherlands with pediatric surgeons and paediatricians who have knowledge of Hirschsprung, one of which should have been consulted immediately in this case. That did not happen in the case of Jayson and once again makes it clear why more attention to protocols around information about rare diseases is necessary.
To find the right expertise, there are now recognized centers of expertise, such as the website View on rare and Orpha.net. And to train care providers in early detection, e-learnings have been developed for general practitioners, paediatricians and general paediatricians about the success factors. There is a great deal of knowledge, but better agreements need to be made about how to make it accessible. It saves so much suffering. Baby Jayson is entitled to it.
Jayson’s parents are members of the Hirschsprung Disease Association and have read this article in advance and given their consent.
