Lucy R’s Story
September 3, 2011, Lucy was born in the Shenandoah Valley in Virginia. We had been waiting for her for a long time, planning and hoping and wishing for this little miracle. We named her Lucinda, which means “light,” because she is the light of our lives.
Her first few months seemed uneventful, though in hindsight I suppose we could have identified signs if only we had known to look for them. But we were absolutely delighted with our beautiful little girl. We took her on her first big road trip to visit her Grandma and Grandpa in Kentucky on Thanksgiving, and then she had a seizure.
Kids with Lucy’s Dravet syndrome typically have a prolonged generalized tonic-clonic seizure — a very long grand mal seizure — as their first event. Lucy does not do things typically. So her first event did not even make the word seizure enter our minds. We simply saw that her right arm was very stiff, and in an odd position, moving rhythmically (we now call it the “chicken wing event”). My husband and I weren’t even sure what to do. We decided to take her to the hospital because she seemed really out of it, and because that side of her body was very limp – even for a 2-month-old baby. We drove her to the nearest hospital, and because we were in rural Kentucky that was 45 minutes away. The doctor there refused to admit us and instead called the University of Kentucky Hospital.
He told us to drive her there as fast as we could, and that he’d contacted the state police to let them know we’d be on the way. He couldn’t send us in the ambulance because they only have one and it was on a call. I think that’s what told us that things were bad.
UK Hospital admitted us through the Emergency Room after midnight and took blood for labs. They kicked us out of the room to perform a lumbar puncture because they told us she would associate the pain with us, but I wish I hadn’t left. I can still hear that particular scream in my soul. The next day, they performed an MRI which required us to meet with the chief of surgery because general anesthesia isn’t safe on a baby that small; and finally an EEG.
All of Lucy’s tests came back negative. Nothing was wrong.
When the doctors discharged us, they told us to follow up with our pediatrician, and to videotape any more events. I made an appointment for a few days after our return, and we drove home.
The day we returned, she did that arm thing again. And then again, on the other side. And then her leg. Then her other leg. Then half of her body. Then her whole body. So I called the doctor’s office.
The nurse listened and said that since all the tests were negative that we could wait until our appointment the next day. Seizures are, after all, extremely rare in babies. But these events kept happening with no other connection but time. Approximately three hours after the last one, Lucy would have another. My husband and I stayed awake all night. I think we knew, but neither of us wanted to say. However, our good doctor took one look at the videos we brought and said it: “I think she’s having seizures.” And then she sent us to the hospital, where we spent the next three days. It was agonizing to watch Lucy have a seizure every three hours, but as the day turned into night, things grew steadily worse – the seizures grew steadily longer and closer together. An EEG had been scheduled for first thing the next morning, and the doctors were trying to not medicate her prior, but by the early morning of the next day, she was having seizures ninety minutes apart and nearly three minutes in length. At about 3:00am, they decided to go ahead and give her Keppra, an anti-epileptic drug. The seizures stopped immediately. Her EEG came back normal. We were sent home with a prescription for Keppra, a prescription for Diastat (a rescue medication to stop seizures which I REALLY hoped we’d never need) and a diagnosis of “seizure disorder.” Lucy had occasional breakthrough seizures now and then, but as we figured out her appropriate Keppra dosage and as she grew, we simply dealt with these.
In May 2012, Lucy began doing some odd shrugging movements. Again, they were unlike anything we had ever seen, so we reported them to her neurologist, who had us bring her in for a 48-hour video EEG. It didn’t capture the movement, and she stopped doing it after a while. We also took her to see a developmental pediatrician because we were having some concerns about her. When he looked at the “shrugging” on video, he said it was possibly a form of dystonic posturing (ha-ha, right?) He also diagnosed Lucy with hypotonia, and sent us to genetics for testing, just to double-check a suspicion of his.
Around this time, we found a wonderful pediatric neurology team who have been taking excellent care of Lucy since then. However, her syndrome is very serious and very severe – excellent care does not mean that she won’t need a lot of help and have a lot of very serious seizures. She had two prolonged seizures in August 2012 which were precipitated by fevers, and both needed Diastat (valium administered rectally) and required trips to the emergency room. This became a trend – we simply couldn’t get back in control.
September 14, 2012, Lucy had her first episode of status epilepticus (SE is a prolonged seizure that is a life-threatening medical emergency). This seizure lasted two hours, and we can identify no trigger. In November, she got sick and had another seizure, during which she probably aspirated some fluid. In December she had a second episode of SE and was admitted to our local hospital with pneumonia. Later that afternoon she went into SE again and was medflighted to VCU hospital, where the next day she had her fourth, fifth, and then SIXTH status. We were there for nine days, and she spent most of that time on a ventilator. On December 21, a kind nurse helped me hold my daughter while she was still on the vent. It was the first time she’d been in my arms in over a week. While I was looking at her still face, with the tubes coming out of her nose and mouth, listening to the machine breathe for her, my cell phone rang. I thought about ignoring it, but since it was a hospital number, I answered. It was our genetics counselor –Lucy had tested positive for an SCN1A mutation. I knew about the syndrome from all the googling I’d been doing – and truly, I’d been expecting it all along since I’d first read about it and recognized the similarity to what I saw in my Lucy.
January of 2013 was, in many ways, a repeat of December –Lucy got RSV and went into SE. She was medflighted to the university hospital and we were there for a week, during which time she had yet another episode of SE. At this point, we knew that daycare and possibly other children were too much a danger for her and made some changes to make it possible for her to be safe and at home more.
To help you understand how heartbreaking the situation with Lucy is, I would like to tell you a little about Lucy how brilliant and funny Lucy is. During one of her assessments, a school psychologist told me that if she didn’t have so many problems and issues, she’d be off the charts in terms of intelligence. Lucy loves words and jokes and songs. She surprised her preschool teacher by identifying the shape “crescent.” She likes to read and had begun to memorize some of her favorite stories and “read” them back to her dolls.
Now four years old, Lucy has several seizure types, and has seizures every day. She requires occupational therapy, physical therapy and speech therapy. Because of these aggressive interventions both in school and out of school, she runs and walks and jumps and is incredibly strong (just last week, she carried her own box of pull-ups for me). She is working on writing her name, and both she and we are learning how best to modulate her sensory issues. While we do not ever get to “relax” in terms of the syndrome, we are learning, constantly how best to deal – and we are learning that the best defense is a strong offense. She will begin kindergarten in one month (I am writing this in July 2016) and while she will have an IEP and special education support, she will also have the support of her many awesome typically developing friends in the normal classroom. She is blazing a new trail for me as her mom, showing me the way with her wonderful light.