Understanding the Real Dangers of Prader-Willi Syndrome and Food Availability

Last week a little boy died.  His name was Coryion.  His 9th birthday would have been tomorrow; he was just a week older than Cainan.  This boy had Prader-Willi Syndrome.  He died from eating so much that his stomach ruptured.

We are fortunate that Cainan has not reached a point where he constantly seeks food.  However,  it's very clear that Cainan does not feel full or ever feels like he's had enough food.  We strictly limit the quantity of food he is allowed to eat at one setting because we know the possible dangers.  It scares me, sometimes when he gets a big plate of food and I know he'll eat every bite if I don't remove some of it.  I know that I can keep him safe but he spends a lot of time away from me; with grandparents, at school, and as he gets older, other social functions.  Even though we explain Cainan's condition and we talk about the danger of overeating, I rarely feel like anyone else "gets it"--especially when I see how much food he's offered in some settings.

Coryion's death--the boy that is the same age as Cainan--breaks my heart and instills real fear in me for my son's well being.  If you or I overeat, we can feel uncomfortable, may even experience pain or vomit if we've binged to the extreme.  Cainan does not experience pain like we do--he probably wouldn't feel it or complain about it.  He also lacks the ability to throw-up, the only natural defense mechanism against overeating.  That means if Cainan eats too much, he can die--in a very short amount of time. 

Do you get it?  He can die from getting too much food.

Our culture struggles with healthy food relationships.  We use food to comfort, to show love, to facilitate social interactions.  We're often encouraged to eat.  We have a real struggle withholding food to anyone, for any reason.  I have had family members question me when I tell them he cannot have more of something or argue with me that he's hungry.  My response is that he's always hungry and the extra food is not going to help him with that.  It's obvious to me that they don't understand the constant hunger struggle and the real danger of letting him eat without limit--his life is on the line!

Recently, the national Prader-Willi Syndrome Association (PWSA USA) put out an article about the risk of death due to stomach rupture or bowel necrosis in individuals with PWS.  If you know us, or anyone with PWS, please, PLEASE, read it.  Know that withholding food is not cruel.  Know that people who have PWS do not have stomachs like ours, cannot complain about symptoms that could be life-threatening and could die from simply getting too much food.  Please help us spread awareness and keep our loved ones safe.

Gastroparesis: The Newest Threat
by Lisa Graziano, M.A., PWCF Executive Director
Janalee Heinemann, M.S., PWSA (USA) Director of Medical Affairs
Ann Scheimann, M.D., M.B.A., Gastroenterologist and PWS Specialist

(This article has been condensed from the original)

There have been articles about the fact that [gastroparesis] exists, alerts about it (Medical Alert: Gastrointestinal Issues in Individuals with PWS ), and now a peek at the likely incidence rate. What we haven’t yet received enough information about, is how do we know if our child/adult has it and what can we do about it. This is the focus of this article.

In 1999 The Gathered View included an article about the discovery by PWS specialist Rob Wharton, M.D., of what he termed Acute Idiopathic Gastric Dilation. What Dr. Wharton saw in his patient was that for some unknown (idiopathic) reason the stomach (gastric) was quickly (acute) pushed out (distended), causing the stomach tissues to die. If not immediately treated with surgery, this condition may lead to death.

Over the following years, particularly with closer examination by PWS/GI specialist Ann Scheimann, M.D., it has become clearer that a great number of other people with PWS have a stomach that empties too slowly. In fact, Dr. Scheimann now believes it is highly probable that a significant number of people with PWS have some degree of a slow emptying stomach. The medical name of this disorder is gastroparesis: the muscles in the wall of the stomach work poorly and prevent the stomach from emptying properly. As a result, food stays in the stomach longer than it should. Over time, the volume of accumulated food in the stomach can cause the stomach to become full. Like a balloon that has too much air, the stomach of someone with PWS that contains too much food can respond in one of two ways: it will rupture or the food will push so hard against the stomach lining that it compresses and weakens the cells in the stomach. Both of these conditions cause massive internal infection and can quickly lead to death. (Please note that there has typically been a prior eating binge with most incidents of GI necrosis and death.)

Other important factors to consider are that some medications such as narcotic pain relievers and anticholinergic medications (group of bronchodilators) can also cause the stomach to empty too slowly (as well as cause dry mouth symptoms). Abnormally high blood glucose (sugar) levels or undetected hypothyroidism can also slow stomach emptying; therefore, it is important to control blood glucose levels and screen periodically for hypothyroidism.

The symptoms of a slow emptying stomach are primarily nausea, vomiting, abdominal fullness after eating, and/or pain. But for persons with PWS who often have a blunted pain threshold and an absent vomit reflex, symptoms of gastroparesis or Acute Idiopathic Gastric Dilation can be extremely difficult to detect. 

At the same time the stomach empties too slowly, the bowel intestinal tract seems to empty too slowly. This means that digested food that the body turns into waste product and must eliminate from the body as feces/stool is not entirely eliminated, leaving too much stool in the intestinal tract.

Many parents and care providers believe that because their child or adult has a bowel movement every day, this means they don’t have a slow emptying bowel. This is not necessarily true. Even with a regular daily bowel movement the intestinal tract may not empty appropriately. As the colon becomes more backed up with retained stool, the ability to evacuate stool is less effective. Over a long period of time, continuous, constant hard pushing has resulted in some people with PWS experiencing rectal prolapse. 

As the colon becomes more impacted with retained stool, emptying of the stomach commonly slows down. This means that the risks of gastric rupture or dilation are dangerously elevated.

How to Detect Gastroparesis and Slow Emptying Bowel

How do we know if the individual with PWS we’re caring for has gastroparesis or a slow emptying bowel? What are the signs? What are the symptoms? What do we look for? The answers are, unfortunately, that there probably aren’t many easily recognizable signs or symptoms.

Because the abdominal core muscles are generally weaker in persons with PWS, the stomach can often appear to be more rounded. If food is not emptied quickly enough, the stomach can look rounded (distended) and feel “too firm” to the touch. On the other hand, for those who are taking growth hormone medication and are therefore leaner, the stomach can already feel “firm” to the touch.
 

The most likely answer to how we treat the potential for gastroparesis and slow emptying bowel is to presume they exist and treat them as if they exist.

Treatment Strategies

1) As with all treatment of PWS symptoms, the first approach is to always provide Food Security: a) a healthy, low-calorie, low carbohydrate diet; b) meals and snacks served at structured times/sequences throughout the day; and c) all access to food restricted.

2) Request from the PWCF or the PWSA (USA) information about GI issues in persons with PWS.

3) If there are GI concerns present, consider consultation with either a pediatric or adult gastroenterologist, dependent upon age. Provide the physician with your GI issues documents.

4) Discuss the pros and cons of a Gastric Emptying Study.

5) Discuss the use of medications such as metoclopramide (Reglan) and erythromycin to improve stomach emptying.

6) Discuss an assessment for stool buildup (e.g., palpitation, x-ray). The Bristol Stool Chart can be used to screen/track progress with management of constipation. 

7) Discuss the use of over-the-counter medications such as Miralax to improve stool elimination and over-the-counter probiotics to help regulate the balance of helpful organisms (microflora) in the intestines.

8) If there are challenging issues for your primary GI specialist physician, suggest the GI specialist contact a PWS GI specialist by contacting the PWCF or the PWSA (USA).

We continue to learn more about the gastrointestinal and bowel emptying issues of Prader-Willi syndrome; as we do, we will inform you. Stay in close contact with your chapter and the national PWSA (USA) organization to as informed as possible.

 

 

Talent Show Recap, Videos and Pictures

So the boys were both excited to be in the Roosevelt talent show this year.  I knew Cainan would want to do an act.  I encouraged Asher to participate in Cainan's dance routine (I figured it would be a hard sell because he's so stinkin' shy and fearful about public performance of any kind) but he refused...because...he wanted to do his own act.  AND he wanted it to be a stand-up routine.  My petrified-with-shyness son wanted to do a solo stand-up act for the talent show.  Of course, I said, "Great!" and didn't show a hint of doubt about it.  

We got to work on both boys' acts.  We went to the library and checked out several books of jokes.  Asher read through them and wrote down some of his favorites.  I transferred them to cue cards for him.  He began to have some doubts as tryouts approached.  He was worried that people might not laugh at the jokes or that when he said, "knock, knock" they might not say, "who's there?"  I suggested Cainan help him out as the "foil".  He could be the one to repeat the jokes, ask questions and say, "who's there?".  Asher liked that idea and seemed to relax once he realized he wouldn't be up there totally alone.

Cainan, on the other hand, was 100% invested in whatever idea we talked about for his act.  I had Googled "talent show ideas" and came across some good ones.  One that really popped out to me was a dance routine where the dancers dressed in black, taped glow in the dark lights to themselves in the shape of stick men, and did a dance routine.  I thought this would be perfect for him because it would look spectacular, even if he isn't the perfect dancer (which he is not--but he puts his whole heart into it).  I came up with a mix of dance music and we worked out a routine.  We told his physical therapist about the idea and she loved it--she helped us come up with a few moves, too (Thank you, Heidi!!).

Both the boys did great during tryouts and were accepted into the talent show.  They both practiced their little hearts out.  As the week of the talent show approached we learned the venue had changed to the gym at their school, during school hours, which meant it would be bright daylight out.  It turns out there is absolutely no way to make the gym dark and the effect for Cainan's whole act would be completely lost.  My little trooper didn't let it phase him and did his whole routine, even though we all could see him as clear as day.  He did fantastic.

(Here's a link to the video if you haven't seen that yet: http://youtu.be/qNWFR3ypmQw)

Then we ripped off all the tape and glow sticks so he could join his brother on stage for the comedy act.  Asher was extremely nervous but not nearly as much as I expected him to be.  Cainan was the perfect foil and Asher delivered each joke with great expression and timing.  He had nothing to worry about since everyone laughed at each joke.  I even heard kids the next week telling each other his jokes as I walked by them after school (proud mama moment)!

(Here's a link to Asher's video if you haven't seen it: http://youtu.be/OkjU3phCzkM

We decided about a week after the show that Cainan should do an encore performance at home, in the dark, so we could record it and let everyone know how the act was really supposed to look.  We just finished that up tonight and it was SPECTACULAR!  He did so awesome and I'm bummed the rest of the audience didn't get to see him the way we did.  BUT, I did record it and here it is, as it should have been...

(If you can't view the video here, you can see it on YouTube here: http://www.youtube.com/watch?v=gHraeRUJuQE&sns=em)

We also received a ton of great pictures e-mailed to us from the school, since they had a photographer there capturing the show.  There's some fantastic shots of the boys!  I'm so proud of them both and they're already talking about next year's show.

Asher doesn't look tense, does he?

You can't even tell his glow stick are activated because it's so bright in there