Saturday December 20, 2003 started out like any other normal Saturday. Sarah was having a typical morning sitting up in her bouncer when she began to act “funny”. It was first noticed by her brother who was 4 at the time. She would get very stiff and turn her head to the left and look like she was holding her breath. These episodes lasted maybe 30 seconds to a minute then she would fall asleep for a while. She would wake up and be OK but then it would happen again and she would tremble a little. At 6 months of age this had never happened before. She had a normal pregnancy and delivery and was very healthy up til this point. But she acted a little strange the day before in that she had a very high pitch scream that I had never heard, almost like she was frightened. But she didn’t have any more so I thought nothing of it.
The next day when these “episodes” started I was working my shift as a nurse at the local hospital while my husband was watching her and he called me about what was happening. I have never heard him sound so afraid. Not knowing what it could be, and trying to stay calm for him I told him it was December and was cold and flu season and she could be coming down with something. I asked if she was coughing, congested or throwing up and he said no. She did not have a temperature. So I said if it happens again to come to the ER.
I knew something was serious when he called frantically and said he was coming to the ER. I met him and Sarah in the ER and witnessed her seizure. What happened then was a blur of activity, with CT scans, IV placed and worst of all watching the nurses “bag’ her when she seized and stopped breathing. It was almost like I was having a nightmare. How could my daughter who was previously in perfect health appear to be near death?
She was admitted to the Childrens Hospital and went home 5 days later on anti-convulsant medications. I remember the doctor saying he wanted to keep her on these meds for 2 years ,and if she didn’t have any more seizures during that time he would consider weaning her off.
Sarah endured 9 years of diagnostic testing including 2 hospitalizations for video monitoring to try and localize a seizure focus for possible resection and cure. No focus was found. We tried the ketogenic diet and the vagus nerve stimulator and neither of those helped stop the seizures. A lumbar puncture was done and was negative and numerous genetic tests (except PCDH19) were done and were all negative. During this time she was hospitalized for seizure control about 4 times and numerous ER admits usually from panicked teachers and nurses at school. Numerous seizure medications and cocktails were tried and none helped control the clusters of seizures.
I knew in my heart something was wrong with her but the doctors couldn’t pinpoint it. By this time she was diagnosed with autism and had severe developmental delays especially with speech. But in going to support groups with autistic children and their parents she clearly wasnt fitting the description of a typical autistic child. Sarah had little speech even at 5 years old and most of the autistic kids were speaking and basically able to function doing activities of daily living, dressing, eating, bathing while Sarah cold not.
She didn’t appear to be like the other kids who had epilepsy either. Most kids with epilepsy have their seizures controlled with meds (at least 2/3 the MD said). And when these kids had breakthrough seizures they just had one. Sarah’s seizures were ALWAYS in clusters. Plus of the kids with seizures the majority do not have delays as severe as Sarah.
We even tried a service dog for her hoping it would help detect her seizures and be her companion and help with her autism. But Sarah was too aggressive with the dog and we had to give it another home. Aggression is a common trait with PCDH19 girls.
So finally the neurologist said he wanted to order another genetic test. I thought nothing of it because everything else had come up negative. The neurologist called me 9 years to the day after her first seizure with the results of this PCDH19 test saying it was positive and the reason for her condition. I googled PCDH19 and was amazed at the similarities between Sarah and the other girls. Sarah symptoms fit exactly everything about this condition. She finally had a diagnoses and we could stop all this testing and wondering.
Today Sarah enjoys playing Wii sports, watching Dora videos, doing puzzles and being tickled. She attends school in special ed and continues to have behavioral and cognitive challenges. We are so grateful for finding this group and having the support of everyone here. We are hopeful research will someday lead to a cure.