OUR STORIES
Jane
Jane was born on September 25th 2011 after an extremely easy pregnancy with no complications. She met many milestones early; she rolled over at 2 ½ months old, cooed and babbled early, and she even had over 15 words by 8-9 months. I thought it was odd that she didn’t crawl sooner since she rolled so early. It took her until about 6-7 months to begin army crawling, and learning to pull herself up to her knees; she enjoyed walking with support between 7-10 months; it appeared she was a little low tone. All in all, she was a typically developing, happy go-lucky baby.
I started a new job in May of 2012, when Jane was just 8 months old (I previously worked at daycare, where Jane attended). I will never forget that mid-July Tuesday morning (Jane was 9 ½ months old), when I got a phone call from the daycare director. She said, “Jane just had a seizure.” My heart sank, and all I could muster up to say was “you’re joking, right?” She said she wished she was. She let me know that they had called an ambulance and Jane was being taken to a local hospital. Once at the hospital they deemed it a “febrile seizure,” even though Jane had no signs of a fever or illness that day. They sent us home to follow up with her pediatrician. When we followed up with her pediatrician the next day, we had discovered that Jane had a rash on her shoulders and back; we were told this was a viral rash, and the virus could have triggered the seizure.
Apart from the rash she seemed healthy and happy, and on Thursday we sent her back to daycare. Around the same time of day, that Thursday morning, I received another call from the daycare; Jane had another seizure. Once at the hospital, they felt that it was another febrile seizure, again, with no signs of having been sick or running a fever; however, the ambulance drivers felt that the room was extremely hot (they were having vent issues that week), and that could have caused her body temperature to go up. The ER staff consulted with a pediatric neurologist in a nearby larger city. He said there was no reason to see her, to start her on Phenobarbital, and send her home. As they went to get the prescription for it, I was holding Jane in my arms, and she appeared to have a “startle reflex,” which she has had multiple times per day in and out of sleep for her whole life. What happened next made me extremely uneasy. What I thought was a “startle reflex” turned into a full blown seizure right in my arms. We yelled for the ER staff to come in, and they said “This changes everything” and began making arrangements to have us sent to the children’s floor at a larger hospital. While in the ER she had a third seizure; the seizures wore Jane out, and the ambulance ride was uneventful.
During our hospital stay Jane’s seizures became more intense, and she began having them more often until she was having them every hour or so. They tried many different combinations of medications, assuring us it was typical to try about 3 different combinations of meds before giving up; I think they tried about 8 or 10. We were in the hospital for a week and a half. The EEG’s were not typical but could not pinpoint a focal point of the seizures. Her MRI came back with a little extra fluid around her brain, but the neurologist said that as she was only 10 months old it’s not uncommon for the brain to be a little smaller at this age. Other than that test after test came back normal. After trying many different medications, on our last day at the hospital, they found a combination of three different medications (clonazepam, Trileptal and phenobarbital) that appeared to just “stop” her seizures all together. Jane officially learned to crawl while we were in the hospital; finally, 10 months old and crawling on her hands and knees!! I think she was hoping to bust out of there! We stayed one more night for observation and went home the next day. Jane had one more break through seizure the next day.
After adjusting her Phenobarbital levels down to a therapeutic dose, we seemed to get our baby back! She became more alert and acted like her normal self again. Jane turned one year old that fall. She began having many sensory problems: banging her head, not wanting to sit in her high chair, and becoming easily frustrated. At the beginning of 2013 Jane appeared ill and was lethargic for about 3 weeks. She would just lie there and scream at us if we tried to console her. She snapped out of it for a couple weeks, and then all of a sudden was back to the same manner for another few weeks. From that point she began using fewer and fewer words, didn’t care to be on her feet, became very temperamental, and began having huge sensory sensitivity to sound and touch. She had a couple breakthrough seizures in the spring but nothing major.
That summer we went to Detroit Children’s Hospital for a PET scan, which came back with multiple areas of concern. The pediatric neurologist told us it looked like multi-focal cortical dysplasia and sent us home to be followed by our neurologist. For the remainder of the year Jane’s sensory and behavior issues fluctuated in severity, changing slightly here and there. By this time Janewas not talking at all and wouldn’t walk. We were concerned that possibly the Phenobarbital could be a partial cause of Jane’s language regression, so that summer we weaned her off of it. Then Jane turned 2 in the fall of 2013. We switched her from clonazapam to a newer medication clobazam (Onfi). Jane was doing well with no seizures, so we began weaning her dose of Onfi. At Jane’s 2 year check up in October, we updated her immunizations. Somewhere between updating her immunizations and weaning her from the second of her seizure medicationsJane’s system went haywire, and that November she had her second cluster of seizures. We tried unsuccessfully to get them under control at home the first couple of days. She was beginning to turn blue during these seizures, which scared us tremendously, and we decided to take her back to the hospital. We were admitted for about a week and a half. Increasing her Onfi and then her Trileptal didn’t stop the seizures. They tried Vimpat again with no luck. Her EEG’s were still showing generalized epilepsy. On our last day they caught a seizure on the EEG, and though brief, before generalizing, they found a left temporal lobe focus. She has moderate slowing on her left side, and a little on the right. We put her back on Phenobarbital that day, and her seizures stopped. Soon after, we had another MRI, which showed that there was still some extra fluid around her brain. At that point, the neurologist told us that her brain wasn’t growing like it was supposed to, and her myelination was delayed (white matter wasn’t growing like it was supposed to).
At that point,we began genetic tests. We did a biopsy for Batten’s disease which was negative. Then we were referred to the University of Michigan for further genetic testing. An epilepsy panel didn’t show anything. However, with this test she had some extra material on one of her X chromosomes, which they were unsure of the significance. So in June 2014 we did a chromosomal microarray. They took samples from both my husband and I, in order to have base comparisons in the case they found something in Jane. After another long 6 months, in January 2015, we received the news that Jane had a new mutation of the PCDH19 gene. Her mutation is on a significant part of the gene (where many of the other mutations are found). She also inherited this specific mutation from me (her mother). As a child, I had 2 seizures around age 5, and no other significant symptoms; why this mutation is affecting our baby differently, we’ll probably never know. We finally have an answer. Since we just found out, we are still taking it all in and what it means for our family, and for Jane.
Within the last year, Jane’s sensory issues have decreased significantly. She began walking just before her 2nd birthday. Her behavior is difficult sometimes (pinching herself, hitting herself, head banging, etc.) She still doesn’t talk but is very communicative in other ways, though still easily frustrated at times. She has an array of other health issues including difficulty swallowing, constipation, asthma, low iron/vitamin d and has been sick every 2 weeks for almost a year.
After receiving early intervention services until age 3, we enrolled Jane in a special education classroom designed for children with autism. The ratio of adults to children is small (1:2), and it has been an adventure. Jane slept during class for over half the year, yet has made small gains. I think the most noticeable gain was 3 weeks into the program: she had been awake for 1 of the 3 weeks, and learned to throw a ball!! We continue our search for other therapies and therapists who can give us some help or insight of how to work with her sensory issues and language/communication delays. Jane has many autistic characteristics, but everyone tiptoes around the idea of an Autism diagnosis because she has the medical diagnosis of epilepsy. Regardless, it doesn’t change who Jane is or how we feel about her. She is still the light of our lives!
All in all, she’s a pretty happy toddler who loves to swing, jump, and climb. She loves Disney Jr., playing on her iPad and building block towers (with help). Her huge smile and laughs are highly contagious to those around her. She’s an amazing little girl who inspires us each and every day.