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.




Wednesday, November 9, 2011

Electrical Status Epilepticus of Sleep Syndrome

Easy for me to say, right?

Also known as ESES, Continuous Spike and Wave during Sleep, CSWS or Penelope Syndrome. As in the myth of Penelope, the wife of Odysseus, what is weaved during the day will be unraveled during the night.

A lot of names and acronyms for what is simply a very rare form of epilepsy.

Nicholas was diagnosed with ESES when he was just four years old.

This is not a symptom of Prader Willi Syndrome.

Although, Neurologists do find that children diagnosed with diseases originating from chromosomal abnormalities are more at risk for developing this disease. Nicholas is just one of the lucky ones, I guess.

Children diagnosed with PWS often suffer from sleep apnea and tonsil enlargement. So when Nicholas was just a toddler we had a sleep study performed at Children's Hospital. Results of this testing indicated an unusual occurrence. Nicholas had one EEG spike during his sleep. No outward sign of a seizure, just a blip on his EEG.

We were off-handedly referred to a Neurologist. There wasn't much concern since it was only one spike. The Neurologist, Dr. Stavros (See my post entitled: Our Healer, Our Hero), suggested we perform a very in-depth 45 minute sleep-deprived EEG.

We kept Nicholas awake for an extended period of time, no easy task I can assure you. We then brought him into the Children's EEG lab early in the morning for testing. About a million leads and wires were slowly placed onto his skull, again no easy task, and his brain activity was monitored while he dozed.

I knew something was wrong since the EEG lab technician seemed very disturbed as the test progressed. He, of course, could not speak with us until the Neurologist evaluated the findings....but I already knew there was trouble.

Well, the next morning the Neurologist contacted our primary care doctor in a panic and explained that over 90% of Nicholas's sleep was disrupted by sub clinical seizure activity and he needed to see us right away. Again, no outward signs of seizures just spikes, but plenty of them. Nick's primary explained to me that she had never received an emergency call from a Neurologist before.

Dr Stavros explained that these spikes interrupted Nicholas's ability to enter the REM stages of sleep. This is the restful stage of sleeping that enables the body and mind to rest and rejuvenate. Without this restful sleep Nicholas would regress and we could see issues develop with speech, fine motor, behavior and cognitive losses.

Nicholas also had some starring off spells, where he would seem to zone out for a few seconds. The Neurologist explained that these were called absence seizures and were also a symptom of this type of epilepsy. Nicholas did experience some behavioral issues which we just assumed was attributed to PWS. His speech and fine motor abilities also became effected.


Nicholas was admitted to the hospital for overnight monitoring where it was confirmed he had ESES.

He was started on an anti epileptic medication immediately. The typical treatment choices for ESES are ACTH (a steroid), valporic acid or high doses if valium. Since ACTH causes weight gain and valporic acid and valium suppresses breathing these choices were not appropriate for a child diagnosed with PWS.

The first medication perscribed to Nicholas was called Keppra but after several moths it caused Nicholas to spin emotionally out of control. We finally settled on a drug called Lamictal, taking two rather high doses each day.

Because Nick has been diagnosed with this unusual disease, we see a Neurologist at Children's Hospital in Boston every 4 months. Once a year, Nicholas is admitted to Children's where he has an overnight EEG performed. His next test is due in February.

The good news is ESES is treatable. With proper medication, Nick's spikes decreased in frequency and now interupt less than 20% of his sleep. Dr. Stavros also explained to us that ESES will usually resolve itself when a child reaches the age of about 12 years-old.

Last week was our visit with Dr Takeoka, who replaced Dr Stavros after he moved back to Cyprus. Dr Takeoka is a kind, intelligent and gentle man. He is never hurried or rushed. He takes plenty of time to patiently answer all of my questions and always treats us with much courtesy and respect. Often he spends more than an hour visiting with us. He has become another good friend to this family.

This time, before our visit with Dr Takeoka, we are given a hand-out from the Children's Hospital Neurology Department. This is something new. On the form is a list of information that all parents of children diagnosed with epilepsy must understand.

It explained about how some medications may lower the levels of calcium and vitamin D.

It explained the importance of monitoring and discussing any kind of regression we see in our children.

And finally, the hand-out wanted parents to know that children diagnosed with epilepsy are at risk of SUDEP.

What is SUDEP you ask?

SUDEP is Sudden Unexpected Death in Epilepsy and is a term that is used when a person with epilepsy suddenly dies. The reason for the death results from unexplained respiratory failure or cardiac arrest after seizures. Post mordem exams usually reveals no abnormalities in victims.

Research has estimated that approximately 50,000 people die each year in the US from prolonged seizures. SUDEP accounts for 8 -17% of deaths in people with epilepsy.

I had buried this neurological possibility somewhere deep within my subconscious several years ago. It is a topic I never wanted to think about. And since there is nothing I can do to protect my child from this risk, it is a danger that I prefer to completely ignore.

But before our appointment with Dr Takeoka last week, there it was......on paper....the brutal and "in your face" reminder once again of the well documented possibility.

And suddenly I felt just as I did when my son was first diagnosed.....overwhelmingly vulnerable.

Dr Takeoka, however, in true "healing spirit" nature explained to me during our appointment, that since Nicholas did not show any outward signs of a seizure, his risk for developing SUDEP is greatly reduced.

Phew! Once again I am thankful that ESES is a treatable condition and we have such astute physicians working to help us.

To read a post about one of our overnight EEG experiences, click here.

If you have questions regarding ESES, please feel free to leave me a comment. I will do my best to answer any and all questions.

If you are a parent with a child who has been newly diagnosed, please know that you are not alone. This is a very difficult condition to diagnose especially since there are no outward signs of any seizure activity. Left untreated, this condition can cause severe regression, catching and treating this condition early is imperative to the good health of your child. You are on your way to getting your child the quality care they deserve.