New Neurologist and Doose Syndrome

The first neurologist that we saw was not who we were referred to originally, but she was able to get us seen quicker and give us the results of his EEG that we so desperately needed.  The neurologist we were referred to was at Mary Bridge Children's hospital and we first met with her on Tuesday, Feb. 28th.  Dr. Korol spent several hours with us during that first appointment and was very thorough in her questions of Joshua's seizures and very thorough in her answers to our questions.  She had a great bedside manner and I instantly liked her.  After discussing Joshua's 4 seizure types and reading the EEG report she said that she thought Joshua had Doose Sydrome.  Chip and I both looked at each other with those "what the hell is that?" look.  We didn't know how to spell it, let alone know what it was.  Dr. Korol stated she could not confirm the diagnosis until she had another EEG completed that she could review.  We scheduled the EEG for the following week on March 5th. 

Dr. Korol explained that Doose Syndrome was a rare (she had only had 2 other patients in her 25+ year career with it) childhood epilepsy syndrome that involves multiple seizure types that are hard to control and that the main seizures were the Atonic and Myoclonic seizures (which he had both).  I will never forget that she said "this is not a kind diagnosis, but we will do everything we can".  I didn't know what to think as I knew nothing about this syndrome and had no idea what was in store for him and our family. 

I went home and scowered the internet that evening for information on Doose Syndrome and found the words "catastrophic seizure disorder that can result in hundreds of seizures per day".  I learned that it affects boys 3:1 to girls and onset is usually between the ages of 1-5.  Additionally, the syndrome starts in kids who are developmentally on target and hitting their milestones prior to onset of seizures.  I learned that cognitive delays are seen in some Doose Syndrome kids, but some is only mild.).  I also learned that a lot of kids needed therapies such as speech, PT, OT, along with other issues.  The hardest thing to read was that Doose Syndrome kids' seizures are usually resistant to medication or what they call "irretractable".  This frightened me because I had originally thought he would gain seizure control through medications.  The reading I did talked about alternative therapies such as diets, implants into the body, steroids, etc.  My head was swirling around "catastrophic", "irretractable seizures", "cognivitive impairements", "speech issues", "months and years of dealing with this syndrome", etc, etc.  It was a VERY long, hard night for us.

If you want to read more about Doose Syndrome this is an excellent website.
www.doosesyndrome.org