Monday, January 24, 2011

PWS questions #3: What is Prader-Willi Syndrome??

Q. "Prader-what?  I've never heard of Prader-Willi Syndrome; what is it?  How does it affect your daughter?"

A.  Without a doubt, every parent or close family member of an individual with PWS has gotten this question multiple times...and has probably also developed their own "stock answer" for it!

Prader-Willi Syndrome is a genetic syndrome affecting the 15th chromosome pair.  It occurs in 1 out of every 12,000 - 15,000 births - which makes it both relatively rare, and also more common than you might think!  PWS is the most common genetically-based cause of obesity in children.  It is found in both genders and all ethnicities.

PWS looks one way from birth to ages 2-6: Infants have extremely low muscle tone, a weak-to-nonexistent cry and almost no ability to coordinate feeding/breathing.  Many infants with PWS have stays in the NICU, and many are discharged with either naso-gastric or direct gastric tubes for feeding.  Infants with PWS are generally extremely lethargic and sleepy, and must be fed on a strict schedule as otherwise they would sleep to the possible point of starvation; infants w/PWS are generally labelled "failure to thrive" at this stage.

The PWS diagnostic process is usually begun shortly after birth, and while there are obvious clinical signs which SHOULD alert a neonatalogist/pediatrician to PWS, a definitive PWS diagnosis involves bloodwork.

This complex syndrome, characterized by poor feeding and slow weight gain at first, takes a 180-degree turn sometime between the ages of 2 and 6 years old.  The child with PWS begins to experience hyperphagia, which is an uncontrollable appetite and 24/7 feelings of hunger even after the child has eaten a regular meal.  The metabolism is affected with this syndrome, such that individuals with PWS gain weight twice-as-fast on half the calories.  This, combined with the hyperphagia, requires that the food/caloric intake of a person with PWS be strictly monitored at all time; without supervision it is possible for the individual to either consistently over-eat (which for them can look like the average person's 2,000 calorie day) to the point of morbid obesity/diabetes/heart complications.  Individuals with PWS require restricted access to food and constant supervision; without these measures it is then possible for them to consume enough food at one sitting to cause their stomach to rupture, leading to death. 

Individuals with PWS often also experience: Cognitive delays, gross-motor delays (walking), moderate-to-severe scoliosis, speech delays, dental PWS the hypothalamus is affected, and this small endocrine organ is extremely important to hunger/satiety, pain sensation, bodily temperature regulation, fluid balance, emotions, puberty and fertility.  So, you can see that once the hypothalamus is affected, as it is with PWS, this causes many, many ripples of consequence.

My own personal take on this complex, challenging, sometimes aggravating syndrome?  It sucks.  I love my S-girl and I don't need to "fix" her, but this syndrome puts her, and all the other individuals who have it, through h-e-double-hockey-sticks.



SuperMom Blues said...

I have never heard of this condition before, so your post was so informative! Genetic disorders are not an easy thing to deal with for anyone - especially the parents of a child with one.

How old is your daughter? Is this a new diagnosis?

JMB said...

Hi SuperMom, thanks for stopping by the 'ol blog!

S is now 7 years old; she was fortunately diagnosed very early, at about 6 weeks old. The syndrome itself was 'named' in the mid-1950's but has been present, if undiagnosed, for probably much longer than that. We were fortunate that S was diagnosed that early - early diagnosis has definitely only been the case within the past 5 years. Before that, parents usually would not obtain a diagnosis for their child until the teenage years, IF EVER. I cannot imagine parenting a child suffering w/the characteristics of this syndrome and not being able to put a name to it... adjusting to it is hard enough when we know what it is and some of what to expect!

Thanks again!

Rachel said...

When I first read your blog I did a quick study on PWS, your definition is much better! It sounds like a tough diagnosis to have. Thanks for laying it down in simpler terms!