A Perfect Day

by M.H.

Some days confound expectations.  Today was one of them.  My 11 year old son (who has PWS) headed off this morning to spend a day having fun with his grandparents.  He does the same thing every summer with varying degrees of success.  Some years he returns sullen and anxious, but today came home with a broad smile on his face accompanied by his equally happy grandparents.   

There is always the potential for things to go badly wrong on a day like this.  Sometimes the excitement is so overwhelming that upset becomes almost impossible to avoid.  Sometimes my son's (often unspoken) expectations about what will happen are not met leading to tears.  Sometime the stress and worry prove so exhausting that the outing cannot be enjoyed at all.  

But not today...Today, the sun shone!

The pet farm was as he remembered and as he wanted it to be.  The amusement park was fully operational and he could enjoy all his favourite rides.  His snacks and lunch were as he expected and he was satisfied with them.

Today, my son laughed and sang and talked and joked with his grandparents and glowed with happiness.  

Today, my son enjoyed a great deal of independence.  He planned the day and decided where they would go and when.

Today, my son willing embraced physical activity.  Without having told me of his plan, he decided to bring his grandparents on an unscheduled 7 kilometre (!) walk as part of their day out.   I think he was proud that he was able to do so.

Today, there were no signs of hyperphagia or anxiety around food.  My son  arrived home over an hour after his normal dinner time exhibiting no signs of worry about food or anything else.  On days like this it is almost possible to forget about PWS.  It is certainly possible to believe that it need not interfere with happiness or fun.   

Recognising and taking pleasure in perfect days and remembering  that they are possible makes harder days so much easier to tolerate.  

My daughter and PWS

by M.H.
 

Last year when my then 3-year-old daughter was attending a preschool her teacher stopped me one day to report an observation.   My daughter, she reported, was remarkably understanding and relaxed around a particular boy in her class.  This boy had autism.  He was nonverbal, 3 years older than my daughter, much bigger than her, and frequently had meltdowns in class.  In contrast to the other children, who were afraid of him, my daughter would sit beside him.  She would talk to him even though he didn't speak back.  She would bring him PECS cards to help him understand when it was time to transition to his next activity.  And she appeared totally unfazed by his meltdowns.  According to the teacher, the many professionals who worked with this boy had all remarked on how this very small girl seemed to understand him and accept him just as he was.

My daughter's teacher did not know that my son has PWS.  I feel quite sure that my daughter was drawn to this boy because of her experiences with her older brother.  Listening to meltdowns, is, unfortunately, something she has grown up with.   

More recently I found my (now 4-year-old) daughter alone in her bedroom planning an elaborate junk food feast for my son's 90th birthday.  That's right - his 90th!  I asked why and she reminded me that I had once said that when people are 90 they can do whatever they want.  Apparently I had said this when she asked why her Granddad was allowed to eat junk food when she and her brother were not.  Her brother was with her at the time and had sought clarification as to whether people who had PWS were also allowed to do whatever they wanted when they were 90.  I had laughed and confirmed that it did.  Clearly, my daughter remembered this, which was why she concluded it was reasonable to plan a junk food bonanza for his 90th birthday 80 years in advance of the actual occasion.  

PWS has been a part of my daughter's life since she was born.  She understands that it is why her brother sometimes has to go to hospital, why he has to have such a small amount to eat, why he cuts his skin, and why he becomes so very upset so very often.  As a two-year-old she occasionally claimed that she too had PWS and at different times demanded a back brace, a CPAP machine, daily injections and, most importantly, my attention for her (pretend) physio routine.

 Like many parents of a child who has PWS who also have one or more children without the syndrome, I've wondered what the impact of PWS on her life will be.  I've worried that one day she will feel forced to take on the responsibility of advocating for a sibling whose needs may be greater than his parents can handle.  I've worried that she may feel neglected because her parents spend so much time with her brother.  I've worried that she will develop an unhealthy relationship with food having grown up in a house where food is treated so unusually and guarded so closely.  And I've eagerly embraced all reports from adult siblings of people who have PWS who have claimed that their experiences with their sibling were more positive than negative.  

The truth, of course, is that I don't know what the impact on my daughter will be.  Nor can I know how she will evaluate the experience as she grows older.  Despite this, I feel a need to believe that my daughter's experience in a household affected by PWS can be positive and that its (unavoidable) negative consequences can be offset by experiences that will teach her valuable lessons and help her to value and enjoy your own life.  

So, I've made a deliberate choice to interpret her actions and reactions as positives not negatives.

I felt happy when my daughter's preschool teacher told me of her relationship with her classmate who has autism.  I have chosen to believe that her experience with her brother will help her be open to all people and as a result will enrich her life and help her be happy.

I also felt happy when I found my daughter planning her brother's 90th birthday party.  I have chosen to interpret it as a sign of her growing empathy and a growing sense of injustice that her brother cannot enjoy what others can.  I have chosen to believe that these qualities will help her make a contribution to the world and find fulfilment in her life.

In evaluating her experiences of living with a sibling with PWS I also hope that she will follow my lead and focus on the positives more than the negatives.

Constipation in PWS

Not the most exciting topic for a blog, I know, but it is becoming more and more often described and reported in PWS, especially in adults and often found in the older generation. And why is this something that we are now much more aware of and why did we not talk about this just a few years ago?

The other week my daughter developed strong stomach pains and was taken to Accident and Emergency at the local hospital.  She had to wait some time to be seen, but when she was finally examined by a doctor, she had an x-ray, was admitted to a surgical ward, and settled down for the night under watch for possible appendicitis.  Her caregiver stayed with her for the entire time (blessings poured upon her!).  I was phoned, but slept through the call and it wasn't until 5.30am that I learned of the previous night's happenings.

So, armed with my usual information about PWS, I drove to the hospital and went to talk to the doctor to find out what was going on.  This took practically a full day before I was able to talk to anyone or find out the results of a second scan.  My daughter was calm, but still in pain.  She was "nil by mouth" for quite a few hours until the cat-scan, but fortunately that didn't faze her - probably because she was on morphine by then and very sleepy.  This scan showed swollen lymph glands around the appendix and, because nothing else had shown up, this was thought to be caused by a virus and presenting as possible appendicitis.  After two nights, my daughter was released from hospital.  However, the pain did not cease and once again she was admitted to hospital.  Here, at my bidding, they looked further at the rectum and found "some backup".  This time she was discharged with a laxative and instructions to have "Kiwi crush" in her diet (this is Kiwi fruit pulp which is like a smoothie and is recommended for those with constipation problems).  Since then she has been just fine and thoroughly enjoying the 'extra' food in her diet!

However, this is the second time she has had this kind of problem and, after emailing with Dr Susanne Blichfeldt, I decided to write a blog about the importance of understanding constipation in PWS.  Susanne has written some really important information that needs to be understood by not only parents and caregivers, but by the medical profession as well.  She writes:

 “Thanks to better care, our knowledge of the adult PW population is growing and thanks to more detailed investigations when adults with PWS are ill, or die, we are now becoming more and more aware that stomach and intestines in PWS often are the organs that cause severe disease or even death among adults with PWS.

"Still, there is a lot that we do not know about the functions of these organs in PWS, but a start is that we are now aware that early treatment of often not very clear symptoms can be lifesaving.

"The “control” of the bowel is under the influence of the autonomic nervous system, which can be described as the part of our nervous system that we cannot control or are aware of, as we are with thinking, motor function etc.

"The autonomous nervous system is also under influence by hypothalamus, the function of which seems to be abnormal in many ways: like appetite and hormone control.

"The autonomous nervous system is under influence of stress, and we must also consider if problems with stomach and intestines  can be, at least partly, ascribed to a stressful life for a person with PWS

"So attention is needed, and all caregivers and parents are recommended to think about constipation as a possible risk of severe illness and also perhaps the explanation for situations with unclear symptoms of malaise.

Often caregivers/parents  answer “no” when asked if the adult with PWS suffers from constipation, but  one point is  that the evacuation of the bowel is something that is not taken notice of, and the adult with PWS does not complain.

"Another thing is that regular toilet visits can not exclude constipation. If only a small amount of stool is delivered, there might be more filling out the rectum.  The stool then backs up.  A slow emptying of the stomach can be a symptom of constipation in PWS. A prolonged passage-time through the intestines seems to be the case in adults.  The result is a constipation build-up in the bowel that ends up to become painful or gives unspecific symptoms from the abdomen.  Then the adult with PWS is referred to hospital but it often takes time to rule out the reason for the symptoms.

"Moreover many do not feel very much pain, even do not complain, but caregivers/parents see that something is really wrong.

"A study has shown that around 50% of adults with PWS had a prolonged passage time, some of these the double the normal (3 days compared with 1½ day: which is the normal time from when you eat until “it leaves you again”).  The participants with PWS in this study were not treated with antipsychotics, and Hormone treatment was not related to the passage time.

" Like almost all other symptoms in PWS, constipation and delayed passage is a problem for some, not all."

  

So, I have already learned a great deal.  What else?  Well, by trolling through the internet I have learned that there are several things that can cause constipation apart from the obvious such as not having enough fibre in the diet, or drinking enough water, or a lack of exercise and repeatedly ignoring the urge 'to go'.  And, of course, these are pretty fundamental issues, particularly the last two, to PWS. But there are other things that can also help cause a blockage in the system and they're worth mentioning so that we get an idea of the whole picture.

• ·        Hypothyroidism, or an underactive thyroid gland, slows the body’s metabolic processes—even the gut.  This little gland in the neck produces the hormones that regulate the body's metabolism.  An underactive thyroid doesn't produce enough hormones, thus slowing the metabolism which can cause tiredness, lethargy and constipation. Both children and adults with PWs can develop hypothyroidism and a yearly blood test for this is recommended.

• ·         Painkillers, specifically narcotics, can cause constipation.  "A lot of receptors for the narcotic class of drugs are in the digestive tract, so it tends to bring everything to a halt," says Thomas Park, MD, a gastroenterologist with the University of Rochester Medical Center Park in New York. "In general, it’s a good idea for everyone who’s placed on one of these drugs to also place them on a gentle laxative like a stool softener."

• ·        If you are taking calcium or iron supplements, these can also cause constipation. Depending on the formula.

• ·        A low-fibre and high-fat diet (which I would assume our people with PW are not on, but you never know), with foods such as cheese, eggs, meat,and also milk are known to slow down the digestion.

• ·        Many adults with PW are treated with SSRI antidepressants (selective serotonin re-uptake inhibitor) may experience constipation because of these.

• ·        Depression can be associated with a slowing down of the body's usual processes which can also affect the bowel.

• ·         Irritable bowel syndrome (IBS) - also linked to depression, and also linked to constipation

• ·        Antacids (for reflux and heartburn) can cause constipation, particularly those containing calcium or aluminium.

• ·        Some drugs used to treat high blood pressure (such as calcium channel blockers and diuretics) can cause constipation.  Diuretics (often given for high blood pressure) flush the system, and water intake needs to be increased to avoid hard stools.

• Diuretics, often prescribed for the treatment of leg oedema can attribute to constiptation. (It push out water from the body, also the intestines)  In PWs oedema is most often caused by overweight and inactivity. (And diuretics might not be the right treatment for this condition) 

• ·        Antihistamines can be a problems, medication for diabetes, and other medications and supplements can also be a cause

Dr Blichfeldt continues:

“Motor inactivity: probably the most serious symptom in PWS: and inactivity is one of the most well-known causes of constipation.

"Studies show that people (adults) with PWS spontaneously move less than others.  And over a week-even with many planned exercises, the sum of moving is less than normal also compared to other syndromes with intellectual disability.  Spontaneously many persons with PWS seek the chair instead of the stair!

"We have no data yet telling if those with PWS with a slow passage time are more inactive than others with a normal passage time, and no special data on their diet, we know only that those who participated in the study were living in group homes with control of food.

"Motor inactivity is the most simple to treat: : but it demands that you (caregiver, parent, friend, sibling) also move!

"So, walking at least ½ hour 3 times a day after each meal - this can, for many, prevent constipation.

"It is necessary to have a dialogue with the person with PWS. It can be a good idea to have a calendar in the toilet, marking each time there has been a bowel movement.  Check to see what the stool looks like …"

 So, what exactly do normal stools look like?   I went looking, and now some special information to share with you -  the Bristol Stool Chart designed especially with this in mind and it looks like this:

Not exactly dinner table conversation, but Type 4 is what we're aiming for and, obviously, Type 1 is when constipation may become an issue.

WHAT TO DO NEXT

First of all we have to be aware that constipation is often not recognised in PWS, and  it can cause severe abdominal problems.

Many cases seen with severe stomach distension also had severe constipation, and not recognised before the person was hospitalised.

We need to talk openly about this, and in any situation where there are complaints, first question should be: bowel function, and not only if the person can manage toilet visits themselves, but also how often and how does the stool look like?”

So, there are several things that can be done, ranging from the gentle (a nice cup of tea), to the more invasive (enema).  To start with, acupressure, tea, and probiotics can be very helpful with tummy problems.

• ·        A brisk walk, as Dr Blichfeldt has mentioned (this helps liven up the intestines and stop cramping and constipation)
• ·        Acupressure can help relieve stress which can cause tummy-aches - Acupressure is gentle pressure applied in a circular motion with your fingers to the area that's four finger-widths above your navel.  This can release feel-good endorphins and help you to relax.
• ·        Overeating can trigger a stomach-ache (and we are all aware of binge-eating and its very disastrous consequences, see blog on gastroparesis).  If this has happened, try a liquid diet for a day (soup, broth, water, or fresh juice).  It may be possible to make food portions more regular but smaller.
• ·        Pro-biotics are the 'flavour of the month' right now - these are good bacteria that help the gut.  You can buy these, or make your own (Kombucha - fermented tea, make your own yoghurt)
• ·        Peppermint tea has always been good for the digestion.  Try a cup of this after the biggest meal of the day. Without sugar and milk .
• ·        If the person is prone to constipation, make sure they take a gentle laxative (see the doctor first), or a natural remedy such as prunes, etc (see your dietician for advice and be careful about the calories contained in dried fruit!) and also remember that what you introduce (food) can be very difficult to quit again!

Finally, I would urge you to share this information with anyone else who cares for someone with PWS.  It's important that we know about constipation as there are many gut issues that seem to present in slightly different ways from the usual and the more we are aware of these, the sooner we can treat them and have the patient back to normal.

Finally, as Dr Blichfeldt points out, if you have PWS you live a life often filled with mental and physical stress and if stress is an indicator of constipation, then why wouldn't this be a very real issue in Prader-Willi Syndrome?

Linda Thornton, Dr Susanne Blichfeldt