What dunnit? Who cares?

Many like myself who have had pyloric stenosis would love to know what caused it.  So would many of our parents.

The short answer is: we still don’t know.

After more than a century of medical research with increasingly powerful tools, we still have very little understanding of why some babies are born with this or other life threatening defects or develop them soon after birth.

Having had surgery for pyloric stenosis (PS) very soon after my arrival, I have often felt very angry frustrated about the apparent lack of medical research to discover the cause of this rather common and deadly condition which has been recognised for more than 120 years.

Not having access to medical libraries, it took the advent of the Web to show me that there have been many research projects on infant PS, resulting in lots of scientific-speak (biochemistry especially is very foreign to me despite its importance!), many improvements to the care of infants having surgery, but no definitive answers to my actual question:
What actually causes these problems?
And so:  What can we do to reduce their incidence?

If PS could be completely prevented, it would save a huge number of babies and their parents being deeply upset and perhaps disturbed in the long term by this fairly common and very traumatic condition.  However, if we don’t know what causes PS we cannot prevent it.

Although my years of interest and research on this issue have not answered my question, they have helped me to understand that my wish list is in fact far too enormous to be met in the foreseeable future.  All the medical research to date has hardly scratched the surface of understanding our bodies and minds!

I’ll restrict myself today to defects of the abdominal area in infants.  That leaves out all those babies affected by defects of the spine, limbs, brain, nerves, face, heart and lungs… and more!  Wow, how kind is that?  And… because just the abdominal area of a baby can have any one of many defects (and sometimes more than one).  I’ll just discuss just three of them – and very briefly.

Abdominal problems in babies may be caused by damaged or defective genes, by biochemical abnormalities, by the failure of some of the baby’s organs to develop normally before or after birth, or by “environmental” factors outside the baby’s own developing body.

Hirschsprung’s disease is not the most common reason for infant surgery but the major surgery to remedy it and frequent ongoing problems (incl. further surgery) make it an important and challenging subject for research.

This disease occurs about once in 5000 babies, who are born without the normal nerves in the lower intestine, causing chronic constipation.  For many years Hirschsprung’s disease was thought to be multi-factorial like pyloric stenosis, having both “natural” and “nurture” causes.

Then two independent genetic studies reported in 1983 that they had succeeded in linking Hirschsprung’s to a particular section of our genetic code.  This research suggested that one gene was responsible but was not able to identify it.  Further study has not been definitive but has shown how complex the biochemistry and genetics of Hirschsprung’s are, and that the factors behind Hirschsprung’s may also be part of other conditions sometimes found in babies at or after birth.

It is clear that there have been significant advances in understanding the causes of Hirschsprung’s and in its surgical treatment, but also that our understanding is still far from complete.  Although Hirschsprung’s was recognised earlier than PS and has been the subject of more study, there has been no reduction of its incidence and its effects on those touched by it.

Wikipedia has a more informed and informative overview of the current state of research into this baffling and complex condition at http://en.wikipedia.org/wiki/Hirschsprung%27s_disease.

A congenital diaphragmatic hernia (CDH) is a rupture of the diaphragm, the muscle sheet that separates the chest organs (the heart and lungs) from the abdominal organs; it is the movement of our diaphragm that enables us to breathe.  With a CDH, the abdominal organs like the liver and stomach intrude into or put pressure on the upper (chest) organs, often to a critical degree.  This hernia occurs in one baby among about 2500 and has a high mortality rate (40-60%) because of its effects on lung and heart function.

CDH is a defect in the baby’s development and occurs before birth; it is believed that there are also environmental or external factors, but these are poorly understood.  Although there are four or more types of CDH, most are of one of these (Bochdalek hernias) and these cases may occur together with other infant maladies and abnormalities in the baby’s chromosomes.  Often there is a family link.

I have not found much more information on the web about the causes of CDH or about research into this.

Infant pyloric stenosis is the most common defect in babies that is usually remedied surgically.  It is certainly multi-factorial, with a long list of risk factors which are not well understood: being male, first-born, Caucasian, Jewish, having B or O blood, exposure to the antibiotic erithromycin, and having a young, stressed and/or bottle-feeding mother.  Although many cases occur among relatives and 75-80% in males, no actual genetic link seems to have been mapped.

Dr Conrad Ramstedt published his surgical technique for the opening up of the pyloric muscle in 1912 (see my 11 January 2011 blog, A survivor by an accident), and his remedy is so simple and immediately effective that it has not been improved upon.  But a great variety of incisions to access the pylorus have been used, although the remedial surgery is now increasingly done laparoscopically (via “keyholes”).

My conclusions?

  • I feel overwhelmed when I think of what can go wrong and affect us before and after our birth.
  • I feel very grateful to have lived a full and longish life, realising that if I had been born 50 years earlier, I would certainly have died a very early and heart-rending death.
  • I realise something of how complex our infant and adult development and our possible defects are.
  • I am thankful that the condition I had (PS) did not leave me with significant physical problems – although the emotional washup has been a different matter.  Many of those few affected by congenital defects have to cope with lifelong physical and medical as well as psychological challenges.
  • I realise how immense the list of human defects and conditions is that we (the general public) and medical workers and researchers would love to understand and be able to manage better.
  • I full well know that although medical science has made great progress, it is hardly God, and many unknowns will always remain to keep us puzzled, frustrated, and humbled.
  • I feel sad when I notice how much better we understand many of those areas of medicine that affect adults (the list is endless) than those related to infancy.  I suspect it comes down to those who have the voice, the numbers and the purse.
  • I am reassured that nothing my parents did caused my PS, and that in almost every case the same is true of other survivors, parents, and conditions of infancy.

1 thought on “What dunnit? Who cares?

  1. Wendy

    I love this post. I, too am frustrated that little is known about the cause of PS. It should be a condition of the past but persists. I wonder how much money is dedicated yearly to studying the causes of the three conditions that you discuss. Not enough, I’m sure, in my opinion, a survivor of PS. I like that this blog is standing up for the little ones without a voice.


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