Our Journey Raising Two Children with Special Needs

This blog chronicles our life raising two children, Nicholas 14, diagnosed with Prader-Willi Syndrome and Weston 17, diagnosed with Autism/Asperger's/ADHD. It's the ups, the downs, the joys, the sorrows and most importantly, the beauty of living a life less perfect, a life more meaningful.

Tuesday, October 9, 2012

Autonomic Nervous System Dysfunction and Prader-Willi Syndrome

As many of you already know, as part of his Prader-Willi Syndrome diagnosis, Nicholas also suffers from sub clinical seizure activity during sleep and was diagnosed with ESES (Electrical Status Epilepticus of Sleep Syndrome) when he was just 4-years-old.

Since that time, Nicholas has been followed by Dr. Masanori Takeoka, a Pediatric Neurologist at Children's Hospital in Boston.

Dr. Takeoka is a very patient man.

Our typical appointment with him usually lasts for well over an hour as I bombard him with thousands of questions and observations of Nick's latest quirky symptoms.

Nicholas experiences many unusual symptoms like shivering spells, chronic fatigue, blood clotting issues. urination difficulties, constipation, lack of fever, sleep issues, lack of saliva and a reduced ability to sweat.

Lately however, as I mentioned in previous posts, he is suffering from more debilitating issues like anxiety and concentration difficulties, things that make it difficult for him to learn.

As I rolled off an unusually long list of complaints to Dr Takeoka, he mentioned to me that most of these unusual issues relate to a dysfunction with the Autonomic Nervous System (ANS). He explained that since Prader Willi Syndrome is a brain disorder stemming from a problem with the hypothalamus, an accompanying Autonomic Nervous System (ANS) dysfunction would certainly make sense.

According to Eduardo Benarroch and the Dana Guide to Brain Health:

Our autonomic nervous system is essential for our survival. This system of nerve cells continuously monitors and controls our visceral organs: the heart and blood vessels; the pupils; the glands for tears, saliva, and sweat; the lungs’ bronchi; the stomach and intestines; the bladder; and the sexual organs. Control of these organs regulates our bodies’ response to exercise, emotion, and environmental challenges. Several areas of the brain are involved in the working of the autonomic nervous system, including the cerebral cortex, amygdala, hypothalamus, brain stem, and spinal cord. Neurons of the brain stem and spinal cord send nerve fibers to the autonomic ganglia, which, in turn, send nerve fibers to all visceral organs.

To read more from The Dana Foundation website and the Guide to Brain Health, read here:

So, in true, "Lisa fashion", I performed some Internet research. I looked for specific information and studies on ANS dysfunction and each of Nicholas's unusual symptoms.....and guess what?

I am amazed at what I found!

For example,

Here is a link to a study that connects sleep problems (early wakening, sleep apnea) with ANS:


Here is a link to a study on breathing issues during sleep and ANS:


Here is a link to a study that connects epilepsy to ANS:


Here is a link to a study that connects slowed gastrointestinal and urinary issues to the ANS:


Here is a link to a study that connects Chronic Fatigue Syndrome to ANS. I was particularly interested in what this study had to say about the difficulty some patients have with standing and concentrating:


Here is a link to a study that connects a lack of sweating, shivering and thermoregulation to ANS:


Here is a link to an article that discusses bladder control issues and ANS:


Here's a link that even connects reduced blood clotting capacity to ANS:


And finally here is a study that connects anxiety and depression issues with ANS:


Interesting connection huh?

I am happy to report that our National PWS organizations are also interested in this connection.

Dr. Andrea Haqq is a Pediatric Endocrinologist located at the University of Alberta in Edmonton, Canada.

Here is some information about her program:

She has written this amazing article about the connection between obesity and the ANS:


Currently, she is seeking patients diagnosed with Prader Willi Syndrome to further investigate this connection. Results of her continuing studies will have an effect not only on individuals diagnosed with PWS but also on the complexity of obesity itself and how we can better treat all individuals who suffer from this condition.

Selfishly, I am interested in her study of this connection to learn more about a possible treatment for all of my son's issues that may be related to this dysfunction.

I guess what I learned that is most distressing to me, is that a weakened ANS causes a type of repressed breathing and an overall sensitivity of the body to fight things like infection.

So, in discussing this with Dr Takeoka he agreed that Nicholas needs to avoid medications that further suppress his breathing since there is a very real possibility for him to stop breathing during sleep, another condition related to ANS dysfunction. Nicholas was having trouble sleeping and we were considering possibly medicating him to help him stay asleep longer.

Since Nicholas also has epilepsy, I was now very concerned. SUDEP (or sudden unexpected death in epilepsy) is a condition that all parents who have a child diagnosed with this epilepsy understand. I asked Dr Takeoka if this further increases his risk. He explained that since Nicholas does not have convulsions, he has less of a risk here, but more of a risk of ceasing to breathe due to ANS dysfunction.

Fighting infection is also difficult for individuals with a weakened nervous system. He explained that once Nicholas gets an infection it is important that it is treated immediately and aggressively. He also recommended that immunizations are spread apart and not given all at once since it can overwhelm his sensitive system. He reinforced the importance of him receiving them however, since his risk for acquiring infection is very high.

He recommended that all children diagnosed with PWS be followed by a Neurologist who in turn should work closely with a child's pediatrician to ensure that these issues are clearly understood by all parents.

Once again, I am reminded of the hidden angels among us who work for the betterment of all.