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.