MAE - Doose Syndrome

Overview:
MAE typically known as Doose Syndrome, is a rare form of Epilepsy. With 1-2 children being diagnosed out of 100 children with epilepsy. MAE is much like Lennox-Gastaut Syndrome (LGS) with the difference of the Myoclonic-Astatic seizure type. Due to the risk of head injury from the drop seizures a protective helmet is worn at all times some may even be in a wheelchair at times because of the 100s of drops in a day to reduce the risk of injury.

Symptoms:
MAE shows to be difficult to treat seizure activity, ranging with several types of seizures and often experience 100s a day. Myoclonic (drop seizure) or Myoclonic-Astatic (drop seizure with muscle loss) seizures are rare and unique with diagnosing MAE. 100% of children diagnosed with MAE will experience one or both of these seizures. Typically a child will have no prior neurological issues and begin having seizures suddenly (onset age of 3) between the ages of 1 and 5.

Testing/Diagnosis:
An EEG reading of a child with MAE typically has a specific Hz pattern.

Treatment:
It is very rare, to have a few medications control seizure activity so several medications are needed along with other treatments. The ketogenic diet has shown a great success reduction rate for many. Other treatments include VNS and/or brain surgery.

Resources:
Epilepsy Foundation Doose Syndrome Foundation and Dallas Childrens Medical Center

Personal Story:
Camryn began having seizures just before his 3 birthday, it was a morning that I will never forget. That first seizure (tonic-clonic) seemed to show up from nowhere and within 2 weeks my healthy and normal little boy was fighting a battle with Epilepsy and 100s of seizures a day, ranging from tonic-clonics, myoclonics, tonics, atonics, absence and other types of seizures recorded on EEGs that we still dont have a name for. We began seeing regression and slower EEG readings and no answers on WHY!?! His resistance to medication was overwhelmingly horrific. Taking 369 pills a month and still having seizures on a daily basis. When the medication was taken away for a VEEG, he experienced status-epilepticus (convulsive and non convulsive) lasting 3 days with zero effects from the emergency medication. It was shocking to me that I assumed the 369 pills a month were doing nothing and then seeing that within just 12 hours without them could possibly be life threatening! Camryn has been on the Keto genic Diet and showed zero improvement as well as the VNS therapy. The VNS is our new HOPE. It is new for us so only time will tell, but we have seen some improvement. He is talking much more now and begining to progress instead of regress. Camryn is a HERO to me and has a smile of pure innocense that I wish the world could have. He is so strong and has been through so much, but when the seizures seem to disappear for even just a few hours he can light up a room with his joy. He may not be "normal" like other kids his age but he IS UNIQUE.



Contributed by MOM Amber Fuller