Angelina was 7 months old when I noticed her first grand mal Tonic Clonic seizure; or as the Doctors tell me, it was the first one I "caught."  After all 3 kids (we have 3 other children) got ready and were off to school, I decided to check on Angelina who was sleeping.  As I walked into her room, there she was in her crib having a seizure.  Little did I know that my world would be changed forever?  By her second birthday she was having hundreds of seizures.  Some were brief, many others would last over 30 minutes and our local EMS was called to our house often.

December of 2007 – Angelina suffered a four-hour epileptic seizure that doctors could not halt until Angelina’s heart stopped.  We spent from December 2^nd through December 26^th in Children’s Hospital of Pittsburgh.  The holidays were very difficult and different.  We made the best of our situation and I hope it made our children stronger as well as more compassionate toward other people.

After the doctors could not explain the high number of the seizures, especially the four-hour life threatening heart-stopping episode, they ordered very detailed and expensive genetic DNA testing. Finally, after being in the PICU for so long we got some answers.  Unfortunately, the answers were devastating.  Angelina was formally diagnosed in January 2008 with an intractable form of epilepsy called Severe Myoclonic Epilepsy of Infancy (SMEI) or Dravet Syndrome.

 

Dravet Syndrome is caused by a genetic mutation that alters the way the brain cells conduct electricity leading to severe seizures.  There is no cure and Angelina will not outgrow her seizures.  Dravet is not an inherited form of epilepsy; the mutation “just happens” at conception.  Afflicted children suffer a poor quality of life from seizures, developmental regression, sleep disturbances, orthopedic problems and other issues.

 

I could not believe that our baby was 1 out of only 600 people in the WORLD to be diagnosed with such a catastrophic syndrome.  I questioned our Doctor and said do you mean country?  And sadly she said World.  We couldn’t believe it.  How did this happen and why?  The prognosis is not good.  Many of the normal epileptic drugs make the seizures worse.  Angelina is currently on 6 medicines that are given twice a day.

Angelina has two neurologist that help her, one at Children’s hospital of Pittsburgh and one at Chicago Children’s Memorial Hospital.

 

Angelina's smile and loving spirit speak louder than words.