Category Archives: Genetics

Pregnancy post-Pyloric Stenosis

One of the most visited posts on this blogsite deals with how having had infant Pyloric Stenosis (“PS”) affects pregnancy.

This question must be answered by looking at several aspects –

  • Will the scar hold?
  • What do I need to know about adhesions?
  • Could I pass on my PS to my baby?
  • Reliving the past – and the trauma

Will my scar hold?

The short answer is Yes!

Our skin varies, as do our stretch marks, as do our scars.  Your scar may stretch and it may change in appearance, perhaps permanently, perhaps not.  Or it may stay much the same, which will put extra stress on the surrounding skin and underlying tissue of the stretching abdominal wall.  This may create a different pattern of striae (stretch marks caused by the dermis or outer tissue tearing) from the usual.  So there are several unpredictable possibilities, but one thing does not happen: your scar will not rupture.

When a surgical wound is healing it can rupture and need repair. Inadequate repair of the underlying tissue can cause a post-operative hernia which will sometimes heal without further intervention, sometimes not.

C 16w 2010But once scar tissue has matured (losing its redness takes a year or two) it is harder and tougher than normal tissue and far less likely to rupture than the surrounding tissue.  The stretching of pregnancy may cause itching, pain, or a tearing feeling, especially in the scarred area, but this won’t affect your baby, womb, or pregnancy, and your doctor can promise you this!

This is how one mother answered this question –

My niece has similarities to your situation, here is what happened with her.

Nothing bad happened to her baby and he was able to grow just fine – your scars will not affect your bub.

As her baby grew it stretched her scars causing shooting pains, the pains were only every now and then.  They only caused her to worry because she thought it may not be the scars and maybe it was something wrong with her baby.

Her scars are right through stretching right down the middle of her stomach in a T like form: she had an operation when she was born and then again when she was 5 and her scars are attached to her muscles.  Her stomach also didn’t grow very big compared to most pregnancies, so if your belly gets bigger than hers it may cause a bit more pain than ‘every now and then’ (but that’s just a guess based on no medical knowledge).

Hope this sets your mind at ease, both you and your baby will be fine. (– anon)

What do I need to know about adhesions?

All abdominal surgery triggers the growth of adhesions, a web like formation of tough scar tissue that develops between areas that have been exposed, cut or otherwise affected by the operation.  The organs inside our abdomen don’t like the fresh air and drying that occur during open surgery, nor the gas that’s used to inflate the abdomen for keyhole surgery.

A laparoscopic image of adhesions between the right diaphragm and liver

Everybody develops adhesions after surgery: these link different abdominal organs (e.g. the stomach and gall bladder or liver) or they link one or more of these with the inside of the abdominal wall.  This is noticed in only a minority of cases, but when adhesions make their presence known it can be very troublesome, causing pain and snaring, choking or otherwise disrupting the normal working of our abdominal organs in the affected area.  Adhesions are hard to treat, as surgery to remove them in affected people will inevitably trigger the growth of more of these nasty webs. I have written about adhesions several times – use the Categories or Tags search boxes to find them or go to Dr Google!

Pregnancy may make a woman with PS in her history aware of adhesions that had not troubled her before. She may feel pain or tearing in the region of her scar as her body changes; although this is uncomfortable it is a normal process and not hazardous, and will probably be a temporary although added discomfort of pregnancy.

Because each pregnancy has its own unique character in lots of ways, the pain and tearing sensations of adhesions can come with any but not usually all of her pregnancies.

The best advice for dealing with adhesion and scar pain and itching is what is usually recommended for pregnancy anyway: lots of lotion and lots of massage – which will help some and not others. The end result of the 9 months will we trust be well worth the discomfort and pain.

This is how one mother answered this question –

I am a 36 year old female, with 3 children.  I had my pyloric stenosis operation in 1974, at 6 weeks old.  My scar is now about 5 inches long, a cm wide and has 4 ‘stitch’ marks down either side.  It sits off centre to my right side, vertically.  And without a doubt it is attached to my abdomen at the bottom of the scar!  My mum said it was just about two inches long when first done.

Throughout childhood I complained that my ‘scar’ hurt and this was dismissed by the GP as part of growing!  At 18 I had my first pregnancy, and had a dip in my stomach as it swelled, with a feeling I can only compare to being jabbed with a pin.  It wasn’t so bad with my second child a year later, although the dip was there as stomach grew.  I had my third and last pregnancy at 33 years old, and my last baby was bigger than first two.

I collapsed with severe pain in my middle of right side 2½ years ago, and initially was diagnosed with kidney stones, but the urologist did not think the stones were big enough to cause the pain I was in.  (They were smaller than grain of rice.)  I am now awaiting an endoscopy with a gastroenterologist to see if I may have adhesions.

My scar is definitely pulling upwards towards my right ribs and I am rather unhappy that I have had to suffer for this long to get any answers!  I have been back and forwards between the specialists 4 times now as neither would pin-point pain, but if I were able to ‘operate’ on myself, I am convinced I could put my finger exactly where my pain is!  The pain is at best mild, but can get worse, usually 30-45 mins after eating.  It is constant, but I have learnt to recognise, offset and control it with painkillers.

I have been lucky that none of my children inherited the pyloric stenosis.  I am convinced that my life time of constant stomach problems, cramps, constipation, stabbing pains, nausea, etc etc has been a result of this condition, and wouldn’t wish it on anyone!  Good luck to you all on getting it sorted, and insist on help if your child continues to suffer. (– Kaz)

Could I pass on my PS to my baby?

This is indeed quite possible, and because of the quirkiness of genetics a mother who has a PS history is more likely to have a Py-baby than a father.  It is well-known that 4-5 boys have PS to every girl with it, but part of this means that those girls who do have it carry stronger PS-carrying genes.  Not nice…

The risk is unpredictable, as infant PS is “multi-factorial” and can be caused by non-genetic factors – labelled “environmental” in the medical world, although PS is never caused by what most of us think of as “the environment”!  A woman who belongs to a family tree with another (possible) case of PS is at higher risk than one with “one-of” PS.  So the likelihood of a PS mother having a PS baby varies from almost nil to about 20% according to the several studies that are freely available online, and some few mothers have reported passing on their PS to most or all of their offspring – up to 4 children in a few cases I have on file!

The key thing to remember is: everyone (mother or father) who has had PS can and should be better prepared to give prompt and the best possible care for their new-born Py-baby!

This is how one website answered this question –

  • Pyloric stenosis is the most common infant surgery in the United States after circumcision.
  • Pyloric stenosis reports in the United States have shown as few as 1 case per 3,000-4,000 live births to as many as 8.2-12 cases per 1,000 live births.
  • In general, pyloric stenosis affects approximately three out of every 1,000 infants.
  • If a child with pyloric stenosis is female:
    the likelihood of having a future son with pyloric stenosis is one in five.
    the likelihood of having a future daughter with pyloric stenosis is one in 14.
  • If a child with pyloric stenosis is male:
    the likelihood of having a future son with pyloric stenosis is one in 20.
    the likelihood of having a future daughter with pyloric stenosis is one in 40-50.

Reliving the past – and the guilt and the trauma

Sadly you won’t find this information on the PS-pages of our hospitals’ and paediatricians’ websites …

But having followed what not a few new parents have reported on internet social forums such as BabyCenter, Facebook, MedHelp, Patient, and Reddit, it is abundantly clear that some who have PS in their story struggle with guilt and PTSD, although thankfully not in a life-threatening form.  How many and how severely people are affected in this way is impossible to estimate, as this matter has not been given any academic or statistical study that I have seen.

The now adult Py-baby may find during pregnancy that they (father as well as mother) are painfully reliving their own past, fearful of passing their PS on to their new baby.  It is now known that the fears and deep emotions that many parents of a PS baby experience and convey to their growing child in story and emotionally can affect the in many ways exciting months leading up to the birth of a new person.  In times past, the traumatised parents would keep their story to themselves, which will often affect their child even more.  Sensitive and wise openness is far preferable to the old-time “stiff upper lip”.

Several things will help –

While most couples awaiting parenthood have never heard of PS, those who “own” their PS story will be far, far, far better prepared.  All infant surgery runs a high risk of a chain of unhappy events, including:

  • the horror of an eagerly awaited newborn infant vomiting itself to death;
  • insensitive, even haughty doctors who dismiss the fears and homework of new parents and draw out diagnosing their infant’s problem;
  • the hazards of anesthesia and surgery, increased in the very young;
  • post-operative complications and frustrations;
  • worries about long-term effects, usually brushed off by doctors but well-founded despite this.

Having recognised and to some extent worked through most of the fears and uncertainties is a great bonus.

Parents with a PS history also need to face the possibility of misgivings and guilt feelings that won’t be justified and will be unproductive, but may be very real and therefore also need to be processed.

As well as the above reasons, PS survivor parents preparing for the birth of a baby may be stressed by the possibility of bringing another “imperfect and damaged person” into the world, and by memories of the utter powerlessness inevitably associated with submitting one’s long-awaited newborn to a medical team and their procedures.

But PS parents will also know better than other parents that despite the above, PS is recognised throughout the medical world as the least un-desirable of all the conditions of infancy that usually require surgery.  The surgery by today’s standards in minor and routine, and almost always quickly effective. Any immediate after-effects will usually clear up within weeks or months, and any long-term after-effects (although usually not acknowledged) are manageable and never life-threatening.

The bottom line: I survived, and my baby will too!

Here follow four people’s observations on this subject area –

I am not so much nervous about labor as I am about being the best mother I can be and being the mother she needs.  I have a lot going through my mind right now.  My main concern is how horrible I will feel if she inherits pyloric stenosis from me.  Because of it I had to have surgery at 3 weeks old, it caused me to be so weak from not enough nutrients that I no longer had the energy to cry.  I am terrified of having to go through what my mom went through.  I keep trying to tell myself that she will be fine and everything will work out, but I am still scared... (– Jessica)

I used to work on a children’s gastrointestinal ward in London and would often see this. It’s a small op as far as an adult is concerned, but for any mum and little quite major. Make sure any questions you have going round in your head now, you write down. Make sure you ask all you want to ask, don’t be afraid as no question is silly, and they would rather explain to you what’s happening than have you confused and worried. (– Rachel)

I almost died before I was even born.  After my mother’s water broke and she was in labor for several hours, I had a bowel movement inside the womb – gross! – and the doctor said that was sign that I was in distress and not getting any oxygen so he performed an emergency C-section.

Then after I was fed for the first time I vomited it right back up.  And I kept vomiting after every feeding. I was diagnosed with pyloric stenosis… So I had to have surgery when I was just a few days old.

So my parents almost lost me twice before I was even a week old, and it’s easy for me to see why they – my mother especially – became overprotective parents.  And they passed that overprotectiveness on to me.  Even though I don’t have or want kids of my own, whenever I’m around kids I’m hyperaware of what’s going on around them.

I grew up knowing about all of the horrible things that can happen to children – rape, kidnapping, murder, etc. And it wasn’t just “stranger danger either. ( – Holly)

I had the surgery as an infant and asked in my first pregnancy if my baby could have the same problem.  I was basically laughed at so I never thought of it again.  I was definitely agitated over that because I would have always watched out for it.  It was hard just thinking about my baby having an IV/surgery and I really broke down when we got to the children’s part of the hospital and I saw the crib/bed.  After that though I was fine.  My DH and I held him for 2 days straight – we took shifts at night.  The hospital was so thorough and made us feel like Jacob was in great hands. (– anon)

Recommended: my previous post on this subject –  https://whatwewishwedknown.wordpress.com/2017/05/15/an-abdominal-scar-and-pregnancy/

 

Understanding infant pyloric stenosis (Conclusions)

In the previous few posts I have overviewed and “translated” in some detail the major and professional medical section of a small book recently published by Dr Ian M Rogers and myself, with the descriptive title, The consequence and cause of pyloric stenosis of infancy: Two personal stories.

The reason for this series of posts?

At least some of the survivors of infant pyloric stenosis (“PS”) and their parents will be interested to know and understand this condition better, as we keep being told that “we still don’t know what causes it”.

Let’s face it, “knowledge is power”, and how many parents don’t wish they knew more about PS when they are suddenly and horribly faced with it?  What causes this?  What can and should I do?  How do I look after my sick baby when I feel the doctor fobs me off? Can my beautiful baby avoid surgery for this? What are the possible short- and long-term side effects?

Although I have never had a child with PS, I had it as a baby and wish I had known what I know now much, much earlier.  In the past this was virtually impossible, but the power of the web has changed this completely.

True, there are still some areas that are not fully understood, but it’s also true that drawing on a lifetime’s work with PS, the retired professor Ian Rogers is able to give us a clear and (it seems to me) compelling explanation of what does in fact cause PS.  The fact that he has written his part of the book using a lot of medical language must not keep his knowledgeable and compelling explanations and rich insights from those of us most affected by PS!

In this the last post of this series, I look at the last three of 6 questions which are often regarded as summing up the mysteries of PS, but which can in fact be answered in the light of Ian Rogers’ discussion of the discoveries that together explain PS.

4   Why is PS more frequent in the first born?

first-time-mom2First-born babies are cared for by cared for by first-time mothers.  PS babies are hungry and vigorous, ravenously hungry (at first), and unusually, the condition does not leave them feeling nauseous but immediately voraciously hungry for more.  Understandably but tragically, this gives the stomach and the acid-caused work-enlarged pyloric muscle no rest; an experienced mother will be more inclined to give feeding a break.

Mention is made of a 1962 article by Dr N M Jacoby, who compared two groups of 100 babies treated medically and surgically for PS, with one baby (only) of each group dying.  Of the medically treated children, Jacoby stresses the importance of (1) relative under-feeding, (2) the drug involved (atropine) being carefully used in relation to body weight, and (3) regular stomach washouts.  Two of these cautions can be linked to the hyper-acidity theory.

It is often mentioned that PS occurs far less frequently in under-developed countries: this also fits the theory, although more factors may be involved.

5   Why does pyloromyotomy, and not gastro-enterostomy, cause the tumour to disappear?

There are reports about 52 year old patients whose pylorus was found to be still enlarged after a gastro-enterostomy surgery in infancy to overcome PS; after pyloromyotomy the pylorus returns to its normal condition after several weeks.

Unlike gastro-enterostomy, pyloromyotomy disables the muscle ring and widens the opening temporarily, which breaks the cycle of its becoming enlarged by overwork.  Gastro-enterostomy was used before pyloromyotomy was discovered and is still used occasionally: it by-passes the pylorus which removes the immediate feeding problem but the pylorus continues to be over-stimulated by an over-acidic stomach.

6   Why does PS present at around 3-4 weeks of age?

Dr Rogers mentions two possible reasons.

It could take some weeks for higher than usual acidity to enlarge the pylorus sufficiently to make a clear diagnosis of PS possible.  But if this were so, we could expect other problems caused by hyper-acidity to arise at this time – and they don’t.

More likely is that the switching mechanism between alkalinity and acidity is more immature than usual during the first weeks.

In evolutionary terms, the benefits of the normal high acidity in a baby during the first weeks (incl. guarding against microbial attack as mentioned earlier) outweigh the negative of a few babies with hyper-acidity having problems!

Other lines of enquiry

1   Genetics

genetics1Genetic studies have shown that more than one gene is involved in PS, and that the condition is multifactorial: it can be caused by any one or more of several factors.  This is confirmed by studies of identical twins who are more likely to share PS than non-identical twins or siblings but far from always.

It has been found that PS infants tend to have higher birth weight, and (anecdotally) they may also become more athletic!

2   Chemistry of the pylorus

Prof. Rogers gives three reasons why the reports of chemical abnormalities of the pyloric muscle (the presence of growth factors and the absence of other chemicals) are theoretically attractive but do not stand up to scrutiny.

3   Infection

The analysis of swabs taken from the nose and throat of babies have shown no abnormality in PS babies.

A previous post has mentioned links between hyperacidity in PS babies and in adults infected with a stomach bug, Helicobacter pylorus, which can trigger gastro-duodenal ulcers.  But several studies of PS infants have not discovered any H. pylorus infection.

Dr Rogers remarks how strange it is that none of these studies links the hyperacidity triggered by a H pylorus infection with the hyperacidity that is part of PS.  Strange indeed!

Conclusion

Dr Rogers sums up:

Constitutional hyperacidity coupled with developmental hyperacidity begets pyloric contractions which begets work hypertrophy which begets IHPS.  IHPS begets further hyperacidity, and so on.
Maternal anxiety in the novice mother means that the hungry but vomiting baby is frequently fed with more pyloric contractions and more work hypertrophy – and a bigger tumour.

Wryly, he adds that it seems there is nothing new under the sun, and that “we are almost back where we started”.  In 1921 Dr J Thompson already proposed that the pylorus spasming and overdeveloping through over-work were the cause of PS, and still earlier, in 1903 Dr W Freund had suggested that excess hydrochloric acidity was a key factor.

The future

Dr Rogers urges that his theory is “perfectly testable”.

  • It is well known that PS babies’ serious loss of acid through their vomiting must be remedied before surgery, as their alkalosis (excess alkaline in the body) causes dangerous hazards during and after the operation.
  • ranitidine01Adults similarly affected by vomiting and acid loss are quickly and effectively treated with drugs to reduce the excessive release of acid.
  • Successful medical treatment of babies with PS is regularly reported: intravenous atropine is used to rapidly reduce the size of the pyloric tumour while the malnutrition and chemical imbalance are corrected.
  • Surgical treatment is now more prompt with a drug (cimetidine) that rapidly corrects alkalosis.  The author mentions an as yet unpublished report that this drug when given to mild cases made surgery unnecessary in 16 of 17 cases.
  • Another powerful acid blocking drug, Ranitidine, has also proved to be very effective in avoiding surgery when PS is recognized early; it should also be useful when surgery is not safe or accessible.  Dr Rogers then briefly outlines several other avenues of treating PS safely and medically.

He concludes his comments on considering non-surgical treatment by adding:

Such a pre-operative strategy with babies with IHPS is long overdue. It should not come as a surprise if we find that such temporary treatment promotes a lasting cure. 

Understanding adult peptic ulcers and infant pyloric stenosis

As a boy I remember my heart churning and racing when I overheard my parents talking about my namesake uncle in the Netherlands having a peptic ulcer and facing surgery for this.

Although my parents would never tell me much about the kanji-like scar on my belly from an infant pyloric stenosis operation and didn’t tell me much about my uncle’s problem, I immediately sensed some kinship.  It was obvious that I had also had a stomach operation… maybe my uncle Fred and I would have similar scars?  Migration to Australia had taken my family half a world away from our Dutch relatives so I assumed I’d never find out.  In the 1950s people didn’t talk about such personal and medical matters, and they certainly didn’t post “selfies” on Facebook.

However, two decades later my uncle visited us in Australia and during a hot summer day’s outing my young family together with my parents and Dutch uncle and aunt enjoyed a swim… and I had confirmation at last!  Despite the usual male body hair I had a glimpse of my uncle’s similar vertical scar.  (It looked tidier and a lot smaller than mine!)  Of course I kept my deeply unloved scar hidden and didn’t dare to talk: I was too choked with shame and other emotions.  Besides this, I was around age 30 and my uncle was 43 years older than me, and I’d come to know him as a friendly but very distinguished man.

I treasured but filed the link away and thought little more about it until 30 years later…

Genes baby1When I started researching PS and related issues on the web in 1997, I soon learnt that sometimes there is a genetic element causing it, and that although a family link is not discovered in the majority of cases, five genetic loci have been identified as having possible links with the development of PS.

I have not heard of anyone else on either side of my family tree having PS and this suggests that there is no clear genetic factor in my story.  There are a few other recognized risk factors which do apply to me: male, firstborn, Caucasian, and maternal stress make a substantial list.

But more recently I discovered a small number of medical journal articles reporting infant PS and peptic ulcers occurring in adulthood in the same families.  Contact me for links if some case stories would be of interest.

Peptic ulcer3And then my web searches yielded a 2007 article written by a retired professor, Dr Ian M Rogers – and since added to by an interview and another article.  Dr Rogers has proposed hyperacidity as the key cause of PS and as the consistently demonstrable link between virtually all that we know about the symptoms and incidence of PS.  His theory also argues that hyperacidity explains why in some families PS can occur in babies and gastric ulcers in adults.

A search of the web will show that Dr Rogers and others have been studying the link between gastric acidity and PS since at least the 1970s and that Dr Rogers’ thinking and knowledge of this have been developing throughout his professional life.  Again, contact me for links if you are interested.

Peptic ulcers of the stomach, pylorus and duodenum are now a very much reduced threat thanks to the discovery that the presence of a bacterium, Helicobacter pylori, was usually needed to develop an ulcer from hyperacidity.  H. pylori is now treated with antibiotics in most or many cases, avoiding the need for a surgical remedy.

This gives me a new line to explore when I reconnect (as planned) with my Dutch relatives in 2014: apart from my uncle’s peptic ulcer is there evidence of hyperacidity or even PS in my Dutch family?

Some readers may be more than interested in building a similar knowledge of their genetic legacy!

The answers to this line of information will help my family and other present and future generations to –

  • better understand the risk profile of their family members,
  • simplify and speed up the diagnosis and management of PS in infants and of hyperacidity and its possible damage in adults, and
  • reduce the likelihood of PS developing to the extent that surgery is considered or recommended for babies, whether actually necessary or not.

The more we know and understand about PS and its related issues, the more we can do to manage it with less cost, upheaval and trauma for baby and parents alike.

Infant pyloric stenosis – some theories about its cause

What causes pyloric stenosis in babies and what does this mean for the way it is treated?

Prof Dr Ian M Rogers, a senior practising and teaching pediatric surgeon, has said: There can be few clinical conditions more fascinating and less understood than hypertrophic pyloric stenosis of infancy (IHPS).

Some years ago Dr Rogers reflected on a life of treating babies with infant hypertrophic pyloric stenosis (“IHPS” or “PS”).  I found his open accessible medical journal article on-line and in June 2012 summarised it (as well as I could as a lay person) for interested but non-academic readers – in other words for most of us who are or have been affected by this fairly common condition.

Mid-2012 Dr Rogers wrote a follow-up article, again in an open access medical journal, and he graciously sent me a copy.  I feel privileged that I can pass this material on also.

So what is the mechanism that causes a baby to start vomiting all its food just a few days or weeks or at most some months after birth?  Many websites tell us the causes of IHPS are likely many and are only very partly understood, that it’s best to operate promptly to relieve the blockage, and that there are usually no long-term after-effects.

a PS baby showing malnourishment

Dr Rogers reviews the various current theories about the cause(s) of PS and explains and argues for the theory that it is caused by inherited hyperacidity (excessive gastric acid levels in the stomach and/or duodenum).  The baby who inherits a normal level of gastric acidity will not reach acid levels severe enough to trigger over-development of the pyloric muscle despite the fact that high levels of gastrin (a hormone that controls the stomach’s gastric acid level) are normally secreted during the first 10 or so days after birth.  The possible danger will cease when gastrin secretion declines naturally with the baby’s age and as the pyloric canal becomes wider.  Genetic factors clearly must also be involved.

There are four theories for the cause of IHPS, and Dr Rogers summarizes the current basis of each and evaluates their status –

1)  Immunohistochemical abnormalities relate to cell and tissue chemistry and immunology.  We are told that  There are so many observed abnormalities that it is unlikely that any one of them is a prime mover in [causing IHPS.]…  Moreover, the abnormalities, if correct, may simply be the mechanism by which a sphincter [valve muscle] becomes hypertrophic [enlarged] as a result of frequent contraction.

2)  Genetic abnormalities: It is well recognised that a significant minority of PS cases occurs in particular families and that siblings are sometimes affected, so that there is clearly a genetic factor among other causes.  Gene mapping has confirmed this.  But the fact that our genes are not the single simple cause is shown by the incidence of PS in twins: although it is more commonly shared by identical twins than fraternal twins, it is far from even near universal.  The age at which PS appears also suggests it is not simply based on inheritance.

3)  An infectious cause might explain the fact that PS usually appears some weeks after birth, but despite several suspect bugs and diseases having been investigated, no link with any environmental trigger or infection has been found.

4)  The hyperacidity theory remains the only one that fits a list of distinctive facts about this condition.  Dr Rogers lists seven (which I quote) and adds two more –

1)  The male/female ratio of 4/1.

2)  The rapid disappearance of the tumour and the long–term cure after pyloromyotomy.

3)  The persistence of the tumour after gastroenterostomy [another surgical technique].

4)  The absence of the tumour at birth and the presence of the tumour at around 4 weeks of age.

5)  The known positive influence of a family history.

6)  The finding of high acid secretion in babies with IHPS and an increased incidence of duodenal ulcer dyspepsia and high volume outputs in long term survivors.

7)  An increased incidence with erythromycin therapy, an antibiotic which increases antral and pyloric contraction.

8)  The approximately 4 week period during which IHPS develops and does not return.

9)  Any condition which is cured by splitting a muscle is likely to be caused by the contraction of that muscle, especially in the light of fact #3.

Next post: more about the hyperacidity theory.

Is infant pyloric stenosis linked with other conditions?

Pyloric stenosis in babies (“PS”) is the most frequent reason for infant surgery apart from elective circumcision and hernias (which rarely need immediate repair in infants).

What causes PS?  There seem to be two main areas of reasons, each not fully understood, but several things have become clear.

Pyloric stenosis can have either an environmental or a genetic cause, and when occurring together these two will raise the likelihood of PS even more.  Prof. Ian Rogers has proposed that PS in babies can be satisfactorily explained as being caused by an unusual rise of gastric acid in the infant’s digestive tract shortly after birth working together with its feeding regime.  The triggers for this acid increase affecting the babys’ pyloric region have also been located in their gene map.

Is PS linked other conditions and malformations of infancy?

This question is asked on several forum sites, usually with a rather vague answer, and I was also asked this recently.

Several statistical studies have shown that PS sometimes does come with other conditions, some of them showing up (like PS) soon after birth, and others in the infant’s later life.

One report states that about 7% of PS babies will also have another condition such as intestinal malrotation, a urinary tract obstruction, or esophageal atresia, which are also caused by chromosome abnormalities caused conditions.  Another report puts the incidence of other problem conditions in a PS baby at between 6 and 20%.  Heart abnormalities must also be added to this list, and also on it are rarer genetic and gastro syndromes such as Smith-Lemli-Opitz and Cornelia de Lange, and Turner’s syndrome, a rare abnormality in the X chromosome of females that leaves them infertile.  A rare association with developmental delay has also been reported.

Other gastro-intestinal conditions more common in PS infants which are later in developing include Crohn’s disease, colitis, irritable bowel syndrome (IBS), and stomach and duodenal ulcers.

Hernias were prominent among the conditions which PS babies suffered in greater numbers in a large study published in 1974 of all 107,244 babies born in Belfast, Northern Ireland in the 13 years 1957-69 which included 289 babies PS who had surgery for PS.  It found a list of associated conditions which were very diverse and varied in severity.  Twelve had an inguinal (groin) hernia (likely caused by PS’ extreme vomiting) and five infants had a hiatus hernia, about ten times more than usual: the stomach’s upper muscle is defective, extending the stomach into the chest and causing reflux.  Two children had phenylketonuria or PKU, a genetic and inherited disorder when the body cannot break down a substance in food called phenylalanine; if left untreated, this changes cells inside the brain and can lead to mental retardation.

Autism Spectrum Disorders (ASD) are developmental abnormalities that include Autism and Asperger’s syndrome.  As reported by one study and noted by another, children with ASD have a higher rate of gastro-intestinal abnormalities including PS than normal.  However, I have been able to find only a little statistical support for this finding, and some doubt.  However, parents on several forum sites have commented on the apparent frequency of PS in their ASD-affected children.  One mother, Ann, commented in 2009: My autistic daughter had pyloric stenosis at three weeks and had to have surgery to fix it.  That was back in 1992, and a couple years later a specialist said there seem to be a higher incidence of that problem in the autistic population.

Genitourinary anomalies have also been associated with PS.  One study found that in a series of 64 patients investigated by intravenous pyelography (kidney study), 13 were abnormal (20.6%).  In another series of 232 patients, 6 had abnormalities of the upper urinary tract (2.7%)…  In this latter series the incidence of inguinal hernia (3.4%), undescended testes (3.0%), and hypospadias (0.9%) was determined.  In another 10 patients urinary tract anomalies (5), urinary infection (2), and a significant family history (3) were found associated with congenital pyloric stenosis. As the incidence of these anomalies is greater than expected, which suggests an interrelationship, a hypothesis has been proposed linking genetic factors and the metabolism of gastrin with the etiology of congenital hypertrophic pyloric stenosis.

It needs to be remembered that although the genetic, environmental and statistical studies of PS and its associated risks are very useful and quite indicative, they are still far from exhaustive.

The environmental factors and mechanical factors in the development of PS are mentioned on almost every book and web page dealing with PS.  They include a few factors which can be linked with other risks as well as PS: the sleeping position and maternal smoking have each been shown to have a clear association with both Sudden Infant Death Syndrome (SIDS) and PS.

What can we learn?

Dr Ian Rogers and others have shown that most cases infant pyloric stenosis can be managed and overcome without surgery.  The agony of SIDS can also be almost eliminated by careful management.

However, this would not seem to be true of most of the genetic and developmental abnormalities and conditions that can affect us – both in our infancy and as we grow up.

Parents with a PS baby would do well to read up on this subject for themselves (here and elsewhere) and to strive to manage their baby’s nursing and possible PS by a careful feeding regime and if necessary, medically – before signing up with the surgeon.

This may well reduce the amount of pain and trauma your child has to endure through their life!

Learning about infant surgery’s long-term effects

Babies who develop pyloric stenosis (PS) more often than not suffer severe malnutrition and dehydration lasting a few days or longer, depending on when the condition is recognized, diagnosed and treated.  Early starvation affects the baby’s brain, and PS itself and the surgery that is usually chosen to remedy it can have lifelong effects about which I written a post.  Several of these traits are ones with which I have struggled, and since I learnt some years ago about the possible link between PS, early infant surgery and a number of developmental traits, I have been inclined to attribute some of my personal challenges to certain events in the first chapter of my life story.

Many years later, I am finding that one of the joys of grandparenthood is that it allows my wife and me to benefit from observing our children and grandkids at a time in life when we have become less busy and focused and more reflective than during our parenting years.

Living in Sydney for a couple of months has given us more time with our daughter’s family there.  Our clan has long recognised that our nearly 7 year old Sydney grandson seems to be more like me than any of our four children and 9 grandchildren.  The kinship is clear in his build (tall and lanky) and in some of his character traits, and as he grows and develops this is becoming even more apparent.

Some of my grandson’s ways are bringing home to me some interesting truths and even some significant questions to ponder.

Fearfulness is common to almost all children, but…

When we are small and feel vulnerable, any dog, loud noise and the sleeping at the home of a trusted classmate can all be very scary.  What has struck me is how difficult it is to reassure a child who is overtaken by fear.  Fear can be most unreasonable and often paralyses.  We have forgotten many of the parenting experiences we ourselves dealt with but are now regularly reminded that dealing with fears and phantoms is a big thing in families, and that for a while many kids are just not ready to slay their dragons.

My grandson used to have as many fears as other grandchildren of ours, but like them he has grown out of them and now deals with most of his fears quite rationally – even before his 8th birthday.  He is really quite confident and brave, handling the reptiles that were the feature of his last birthday party, as well as the garden beasties at home.  His mother was able to coach him to manage trips to the doctor for a booster injection, and to the dentist (an even bigger bogey).

All this has made me reflect on the fact that there have never been any real ogres and no-noes in my life, except that a surgical scar from an infant pyloric stenosis (“PS”) operation in my very first days has been something that’s taken me most of my life to come to terms with (and I know of others who are still in the throes of revulsion over a similar experience).

The key?  Good parenting can help an average child to deal with almost anything.  Parents who (like mine) have not dealt with their own hurts and traumas can make it well-nigh impossible for them to not damage their own children.

Humble and self-effacing

My family in Sydney has two cars: an old gas guzzler without enough seats for the family and is used as a work car, and an SUV family use.  My daughter and her husband decided the old work car should be replaced, so my SIL took his son to a car yard and checked out a number of cars.  Having done this, dad asked his son, “Well, what do you think?”  Sonny-boy looked uncertain so dad encouraged him to say which he thought might be the nicest car to buy.  His answer: “Well dad, they’re all nice but I really don’t like any of them.”  “Why not?”  The reply broke his father heart: “All of these cars have got enough room for you, mum and the [three] girls, but not for me.”

I’m also someone who tends to jump to unwarranted conclusions and sell myself short – as my family sometimes has to tell me.

Since reading that lack of self-confidence can be the result of the malnutrition that comes from PS, I have claimed that link for myself.  But I’m realising that although that this may well be a valid linkage, my genetic code is certainly also a factor.

Obsessive and scatter-brained

My grandson is (again like many children) quite obsessive: his present crush is on dinosaurs (and again, he’s not unique there).  He gets books on them, draws them, collects them in toy form in 101 varieties, watches every movie and YouTube he can find, talks and plays dinosaurs, and even roars and snarls at his sisters like the ones on the video.

He’s also outrageously scatter-brained, as I realise in the morning when my daughter struggles to keep him on task when he’s supposed to be getting ready for school.  It only takes a thought or something interesting in his field of sight, and he’s off-target and running even later.

This too has made me realise that being scatter-brained and as obsessive as I am about myself, my work, and my interests are clearly not only the result of a brain affected very early by malnutrition and the trauma of 1940s style surgery.

Uncoordinated

Last Saturday was the first time I could watch this grandson play soccer.  The game was a walkover for my grandson’s young team (8-1) – but not thanks to him… As for me, I felt both jealous and a strong dose of déjà vu.

Jealous because I grew up in a very busy migrant family in the 1950s when TV had not yet reached Australia and very, very few people could afford the time and money needed for kids’ sport: consequently I grew up knowing virtually nothing about the then popular sports and understanding even less.  This didn’t inspire practice and dedication!  I always felt so unwanted and miserable when I had to play basketball, rugby and soccer as an essential part of my high school education.

Déjà vu because although my grandson was being coached and trained to play a brand of football from an early age, with the keen support of his parents and a sympathetic team, he looked so much like I know I looked on the field: out of place, awkward, inept, running after the ball rather than managing it.

Lack of physical coordination is another recognised effect of the kind of malnutrition that results from PS in babies, and since reading this I’ve attributed the combination of my early illness, the post-World War 2 and migrant conditions, and my parents’ preoccupations for my years of wretchedness in school physical education and sports.  Once free of the straightjacket of the school program, I found I was much better suited to individual than team and fast sports, and came to love jogging, walking, hiking and swimming.

Now, who am I?

So much of what I’m seeing in my Sydney grandson prompts me to ask myself: to what extent have some of my problems been genetic, and how much is due to early brain and emotional damage?  Ultimately, it makes no difference now, as I’m grateful to be a PS survivor from an era when this was not as assured as today, and I’ve learnt to live a full and fruitful life despite some sports and social situations being not-for-me.

My time back in Sydney has certainly been an eye-opener, raising and clarifying issues, enabling me to know and understand myself and my story better as I watch my grandchildren growing their own stories.

What have you, the reader of these reflections, learnt about yourself from observing and comparing yourself with other family members?

Infant surgery can have complex causes

A family I know has pyloric stenosis (PS) right through the generations, three that I know of.  PS is a badge of their tribe, and that could be quite affirming, even fun.  I can feel quite envious of them: even if they hate their scar and have PTSD (trauma) from their surgery, they learnt very early that they were not freaks but really belong to their talented and energetic clan!  Other PS families tell stories like that on the web, often light-heartedly.

It took me most of my 66 years to get anywhere near that feeling of being OK and belonging.  My parents could never bring themselves to explain my scar and left me feeling exposed, speechless and unusual at an age when that was traumatic in a variety of situations: as a child in the bath, in the school gym, at the beach, on hot days.  It was nearly 30 years before I met others with a similar scar and realised I was not a unique freak and in fact belong to the enormous PS Club.

It’s only recently that I’ve taken to heart that feeling painfully unique in my family is something that happens to lots of people.  Today some medical reports are being published free and online like the one which enabled me to discover why certain defects of infancy occur just once in some families and many times over in others.

For a reader with a PS history who is able to pick up the basics from among a lot of scientific terminology, the article referred to is fascinating to browse-read: it will give you a glimpse of the gene technology that can now increasingly unlock new information about how we are constructed.  I’ll attempt to glean the main facts here…

The term “multifactorial” is often used when conditions of infancy like cerebral palsy, cleft lip and cleft palate, heart defects, PS and other abdominal conditions, and spinal and neural tube defects like spinal bifida.  “Multifactorial” means they are caused by any of a mix of genetic and environmental causes.

Family tree showing those affected by pyloric stenosis

The report cited shows clearly that any of several genes may be involved when a baby has PS or other multifactorial conditions.  The report details a study of PS in an extended family where it was tracked to chromosome 16q24; but the study also found that the genes of 14 other PS-affected families did not link their PS with this chromosome.  It also found that the PS-linked chromosome in multiple PS families seems stronger (about 2 boys to every girl baby) than in isolated cases of PS (4-5 boys to every girl).  So PS may arise from any one (or more) of several chromosomes – which are still being explored.

Again taking PS as an example, put together the fact that just two or three different gene loci (positions on our chromosomes) have been identified so far that can be linked with PS, and add to that any number of “environmental” factors, just some of which were mentioned in my previous post, like the richness and abundance of the milk the baby gets.  Additional “environmental” factors identified as possible triggers of PS include bio-chemical conditions in the baby’s gut too complex to explain further here, the mother’s age and stress level, whether the baby is breast or bottle fed, the family’s socio-economic circumstances, and other birth defects, as PS comes together with other gut, chest and heart defects and conditions like Asperger’s disease far more often than average.

I’ve often wondered why I seemed to be the only one in my family with PS, and why I haven’t passed it on to any of my 13 children and grandchildren (“touch wood”), whilst other families include many with this affliction.  I’ve been annoyed that there seems to be so little research into the causes and prevention of PS and similar conditions that trouble new parents and their babies.  But I’m increasingly realising how complex this branch of science is, and intrigued by the technology that is steadily unlocking some of the mysteries.

Another journal article I read recently defines some terms helpful to understanding the causes of conditions like the ones covered by this post.  The article states: Polygenic traits are determined by the combined effects of many genes.  Multifactorial traits are determined by several genes and environmental factors.  It is now believed that the majority of inherited traits are multifactorial or polygenic.

An associated journal article calls PS a threshold multifactorial trait.  If a woman has PS, she or her parents have abnormal genes or more risk factors (a higher threshold) than is usually necessary to produce PS in males, and her children therefore have a higher risk of the PS recurring.  The affected woman’s male children have the highest risk as they will inherit more than the usual number of susceptibility genes and also because they are the more sensitive sex.

All this means that we can know all there is to know about my gene profile, like my parents have no PS on either side of the family, and still have a child with this condition.  And there are several stories on the web of both parents having had PS and their children not.

Genetics is very humbling and uncertainty is very frustrating for control freaks.  But provided we are sober about our finiteness, the unlocking of more and more of the complex causes of infant surgery is fascinating and reassuring.  The world including our bodies is more intricate than we ever imagined, but our empowerment is making progress, sometimes at a frustratingly slow pace, sometimes with amazing speed, but never complete.