Sunday, January 16, 2011

Our Journey with Epilepsy

One of Jadyne's 24hr+ EEGs over the years. She's a trooper.

I know when I first heard the doctors tell me my daughter had epilepsy I thought of a child flailing uncontrollably possibly dying from swallowing her tongue. I'm not quite sure where these myths started, but they simply aren't true.

Jadyne's first seizure was at seven months old. There are many types of seizures, and her first one was an absence seizure. During an absence seizure, the child just stares right through you. They are unresponsive to any stimulation. It is quite scary. I rushed her to the ER, but the ER told me she just had a night terror. A night terror? She's seven months old? What has she possibly experienced in her life so frightening it would even manifest itself as a night terror. From having two other children already, I knew night terrors were more of a toddler stage occurrence. Therefore, I followed-up with her pediatrician. He had performed a neurology residency during his education and knew immediately from the symptoms we described this was indeed an absence seizure. No one in my family had seizures. This frightened me. Shouldn't we do some type of work-up? His answer was that everyone is entitled to one seizure in their lifetime, that it was probably just stimulated by lights or some other type of over-stimulation, and if she had another, then we'd do a work-up. This didn't set right with me, considering she was getting ready for bed when the seizure occurred. The lights were dimmed. The house was quiet. Still I was too new into this lifestyle of a parent of a disabled child to realize I could question and even fight the doctors when needed for her care.

What became the focus soon after as Jadyne turned a year old is that she has missed so many milestones. The formal testing began, and all the tests showed "something" was wrong, but nothing showed exactly what. Therefore, therapy began when she was 14 mos old. Jadyne did all kinds of "quirky" things. She would flap her fingers (later to be discovered to be a stereotypical autistic behavior of atypical handflapping), bang her head, pull hear hair, and more (again all stereotypical autistic behaviors). I had noticed she began to flutter her eyes and bob her head a bit once in awhile, but I just thought this was another "quirk" of hers. Luckily, it was one of her therapists, when she was 2 1/2 that said, "You know, I work with another little boy who has seizures and his seizures look very similar to that eye fluttering she's doing."

Soon after we were at Children's Hospital of Pittsburgh; Jadyne was admitted. They kept her for three days and ran every test possible within those three days. The developmental team and neurology team worked together. The conclusion was Jadyne was having so many seizures in a day that it was impossible to count. The possibility lied that her developmental issues were related to the seizures, and the developmental team would continue to rule out possible diagnoses as time went on. The chromosome for autism and epilepsy are closely related, so a single depletion could cause both in theory. As we left, it was confirmed Jadyne had a Generalized Seizure Disorder, also known as Epilepsy. The doctor's put her on Topamax, but she didn't get better, she got worse. For a year the doctor's upped the dosage until finally giving up that this medication, although effective for many and carrying very low side effects, just was not going to be effective for Jadyne.

Currently Jadyne is diagnosed with Generalized Nonconvulsive Epilepsy. We do suspect due to the progression of the manifestation of her seizures and the increase in frequency of her seizures over the years that she will eventually have Generalized Convulsive Epilepsy, as she has already begun to present with some of the criteria for that diagnosis. Fortunately, we were able to find a wonderful pediatric neurologist, Maggi Jaynes, out of WVU Pediatric Neurology. She took Jadyne off the Topamax, knowing immediately that drug would never have proven effective for Jadyne's type of epilepsy and put her on what has proven to be a miracle drug for her, Lamictal. You'll notice if you click that link, the generic form is lamotrogine, which of course, Jadyne was first put on. It worked for about a year. However, she grew a tolerance. The drug must be titrated very slowly due to a very rare side effect. Thus, once the generic form no longer worked, we had to completely retitrate her to the brand necessary form. It takes approximately six months to get to a workable dose. However, Jadyne always showed great results much sooner. She's tolerated the drug very well. Approximately every 6-9 months she'll begin to have seizure breakthroughs, and we'll up the dosage. However, we're still far below the maximum dosage per kilo. I can't say enough about this drug. Thank you, GlaxoSmithKline.

Jadyne still has seizures. She's unaware that she has them. Most are only a few seconds long, just an eye flutter and a head bop. As her tolerance to the medication ensues, she begins to have drop attacks. These have caused injuries to her face and body, and they are what concern us. She will most likely never be seizure free. However, as long as we can keep the seizures to a minimum through miracle medications like Lamictal, she can lead a normal life. Unfortunately not enough of the public is trained in epilepsy that works with children. The term epilepsy is often frightening to many. Jadyne has been needlessly pulled out of class many many times over a few second seizure. There is not a reason a child with epilepsy can't lead a normal life like any other kid.

The term Lennox-Gastaut Syndrome has been thrown around over the years with Jadyne's specialists. However, it can only be diagnosed by a specific spike and wave pattern on an EEG, and it isn't worth taking her off her medication to see if the pattern exists because treatment for that disorder is the same as the treatment regiment she is already using. Regardless of whether she has that disorder or not, her seizures have progressed in manifestation and frequency over the years. This isn't over yet. It isn't unreasonable to believe eventually Jadyne's seizures will manifest into Grand Mal Seizures. In fact there is no difference on an EEG from a Grand Mal Seizure to any other of the Generalized Seizures she has. The only difference is the manifestation in what the body does during the seizure. Our hope is that through the medication and advancement of research and improvement of medications, we can continue to prevent these seizures from occurring for her. So far, we have been very fortunate to find an amazing specialist and a miracle medication, and Jadyne leads a life like any other kid without epilepsy. =)


About Us | Blog Design | 2011 Beyond the Bounds of Words