Doose Syndrome

Doctor B's gentle words rang in my ears. "Mom, it looks like Elias has a rare form of epilepsy. Myoclonic-Astatic Epilepsy (mae) or Doose Syndrome."

A diagnosis. Finally. Finally a Doctor had taken the time to listen.  I felt validated.  Finally someone had acknowledged that I was right. These were not normal seizures, if there can be such a thing.

Dr. B explained that we needed to make an appointment with an epileptologist right away because the faster we could get treatment for Elias, the better the outcome.  In many ways I was relieved. There is a treatment. We could move forward. There was a plan and Dr. B would do everything he could to get us in to see a specialist as soon as possible.

But I was also angry. For nearly a month I had been begging for someone to listen. I had emailed videos, made dozens of calls. Why had the on-call Doctors missed something he had caught so quickly (without even seeing the videos)?  If time is so important, why do these on-call Doctor's not know more about this syndrome?  Dr.B explained that the on-call Doctors are residents and they often lack bedside manners. They have not learned that mothers are the best source of information and usually know when something just isn't right.

When our conversation was over, I had an appointment with a neurologist specializing in epilepsy-called an epileptologist and about a million questions.  

What exactly is Doose Syndrome? Is it genetic? Could our other children have it? What is the success rate of treating with medications?

Honestly, my questions were not answered thoroughly at our first appointment or even at our second appointment.  I still have many questions.  But I do know this.

Doose Syndrome is a rare genetic mutation that isn't well understood.  The chances of our other children having it are the same for any other child, meaning that it is not an inherited defect.  It is difficult to treat and resistant to medications. MAE is an idiopathic generalized epilepsy, meaning that there is no known cause for the seizures (idiopathic) and the seizures originate from all over the brain (generalized) as opposed to coming from one focal area. Onset of MAE occurs commonly in the first five yeas of life, with the mean age being three. Statistics show that it usually affects children who have previously developed normally, and boys are twice as likely as girls to develop MAE.

MAE is a syndrome with variable courses and various outcomes, meaning that the treatment each individual child responds to will also be highly variable. There is no 'right' answer that encompasses the whole range of children - each parent in conjunction with their treating physician must therefore be part of the process where they strive for the ideal treatment for their individual child to be found.  

And the hardest for me- Doose Syndrome can lead to long term cognitive learning disabilities.  

Beyond that, we don't understand much.