OUR STORIES

Amber

Amber was born on May 28, 1999.  Her birth was pretty much normal, but soon after they brought her to me I noticed that her breathing was load (strider).  They said everything was ok and we took her home from the hospital.  I knew it did not sound right as my son (4 years older) never sounded like this.  It turned out she has laryngomalacia (floppy vocal cords), which I now know many times is connected with developmental disabilities.

When she was 4 ½ months old, I put her in her crib for a nap and laid down on the bed next to her.  Shortly after, I heard her let out a horrifying sounding scream.  I picked her up and she was stiff and not breathing.  Neither my husband nor I had ever seen a seizure and we were scared to death.  We called 911 and she was taken to the ER, where she had another seizure.  I vividly remember thinking when the nurse said, “she is having a seizure”, the rest of our lives had just changed as of that moment. They ran a bunch of tests that all came back normal.  But just 2 weeks later, it started again.

Her development had been pretty normal up until about 13 months old. Over the course of the summer of 2000 she was having so many seizures and they could not figure out what was wrong.  She was transferred to UCLA Medical Center for more tests (MRI, PET scan, Metabolic, EEG, etc., etc.) …no conclusion.  We tried so many different anticonvulsants, with none working.  We tried the Ketogenic Diet and had a VNS implant.  Over the next 2 years we were in and out of the ER and hospital so many times, we lost count.  She was assigned an in-home nurse to help us care for her.  She lost most of her developmental gains and starting getting OT and PT.  She continued to have seizure clusters about every 2 to 4 weeks.  In 2005 she was started on Keppra and that was the only drug that actually made a difference.

Amber is now 14 years old.  Her seizures happen much less often now as she gets older and we are so thankful for that (only had 2 clusters last year).  She is developmentally delayed, autistic, and has OCD.  Much more importantly though, she is a happy, cleaver and strong willed, beautiful girl.  She loves puzzles, car rides, painting and playing in the water.  She gets ABA therapy that has done wonders for her development and independence.  She is non-verbal, but does says a few words, has learned sign language, does household responsibilities around the house like setting the table and goes to a special education school.

All these years we knew what was going on with her was so different, but no one could tell us what it was.  We started with a new Neurologist last year (2013), who on our first visit, in passing, she mentioned there was a disorder where they cluster seizures and have autism   She did not mention the name, but when I got home, I did an internet search and there  it  was, PCDH19, it fit Amber to a T.  Up until that point we had pretty much given up hope of ever getting a true diagnosis.  I went back and told the Neurologist we wanted to have her tested.  She was, and it came back positive. Although bittersweet, at least we now have a name to put to it!

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