A Landau-Kleffner Syndrome story

Aug 16, 2017

Piper's journey with LKS all started one afternoon while picking her up at preschool. On this particular day,  I happened to notice that many of the other kids Piper's age had a much more expansive vocabulary at 2 1/2 than I had been observing from Piper. Almost as if to confirm this passing thought, Piper burst out in a string of complete jibberish and became frustrated when I couldn't understand what it was she needed or wanted.  I then asked her preschool teacher, "Is Piper talking at the level of her peers?" With no time needed to think about it, she quickly answered, "No!" The firmness of her answer hit me with surprise, yet in the back of my mind, I had already suspected as much. It was during this simple exchange that I look back and recall as the moment that I knew in my heart, something was wrong. Piper had made all the normal milestones of development, so how was it possible that all of a sudden she was so far behind her peers? I phoned my husband with concern and he immediately reassured me that she was completely normal and we had nothing to worry about.  "She talks", he had said. "She says four word sentences, like, "Daddy, I love you." or "I need some water, please." She is fine." Later that evening we began to monitor her more closely, looking for further confirmation that our worries were unnecessary. Instead, our concerns magnified as we began to notice that in addition to Piper's inability to communicate, she also seemed unable to hear us. We could stand next to her, shout, try to coax her- no response. It became evidently clear that something was not right. With our new observations and concern that she may have hearing loss, I immediately made an appointment with her doctor. Over the next few days, our fears heightened and we became confused about what we were witnessing. Piper spoke less and less every day, there were now multiple days on end that we would go without hearing her voice. She would wake at night and scream, unable to yell, "Mommy " or "Daddy" as she would frequently do in weeks just prior. She no longer responded to her name or other attempts to gain her attention. At first it seemed to make perfect sense if she had in fact lost her hearing; however, in the car, we would notice that she would dance and move to her favorite songs, even at low volumes.  With holes in our theory of hearing loss, we began to investigate further to find answers for what was quickly afflicting our baby girl. After way too much time Google searching (worst thing a parent can do), I had convinced myself of her diagnosis and narrowed it down to either Rhet's syndrome or a brain tumor.  Frantically, I reached out to her doctor again. We are fortunate to have one of the greatest pediatricians there is, and instead of passing off my concerns as a neurotic parent, she immediately put us in touch with a neurologist. The days we waited to see a specialist seemed like an eternity. In our initial visit with the neurologist, he was very frank with us. "It could likely be Rhet's syndrome, it was unlikely that it was a brain tumor... hopefully she just has Autism." In addition to an extensive blood test panel, an MRI, and a developmental behavioral evaluation, he suggested we also get an EEG test to rule out epilepsy. Within a few days we had scheduled her first EEG. Instructions were given to keep her up all night the night before, keep her awake on the hour long drive there, get her to accommodate a technician glueing 30-something electrodes to her head... and then miraculously fall asleep in a bright lit room while strangers observe her. Ha! I remember thinking, "That's not going to happen! This all seems like a huge inconvenient waste of time. She has never had a seizure, she doesn't have epilepsy!" (Spoiler alert-I was wrong!) We scheduled the test anyhow. It was nothing short of a miracle that were successful in getting her prepped and sleeping within an hour. They woke her 10 minutes into her sleep, just long enough to get a glimpse of what is going on in her brain when she closes her eyes at night.  

Finally we had some answers. "Your daughter is NOT Autistic." I remember not knowing how to feel about this news. Learning that she had Landau Klefner Syndrome, brought about so many feelings. Relief that her condition wasn't imminently life-threatening; but, also terrified at how little was known about etiology and treatment. From what I had read, efficacy of treatment for children so young did not appear promising. The only certainty we left our visit with, was knowing we had a long journey ahead of us, and it was just beginning.

Piper started on her first dose of Prednisone immediately. As the steroids took effect, she developed Cushing's syndrome within weeks. Her appetite was ravenous and she became agitated easily. Her next EEG showed that the steroids were working as it came back clear of any ESES activity. Hooray, right...? Her ESES was gone but she still wasn't talking or responding to us. Her medication was working, but her language was not improving. Months went by and we noticed only minimal improvements. A speech therapist introduced us to sign language to help us communicate her basic needs. We learned just enough to get by with simple gestures, but reluctantly feared that signing would be Piper's only means of language. I desperately wanted to hear her voice again. Anything and everything I read about that could help improve speech, I was open to and willing to try. Speech therapy, OT... Vitamins, special diets, music therapy, chiropractic care, acupuncture, cbd oil, essential oils, and prayers... you name it! We'll do it all! Five months into her treatment with clear EEG's, yet little clinical progress, we started to wean her from Prednisone. It was also about this time that we started acupuncture and experienced our first breakthrough. The week following our first visit we were departing pre-school and I routinely told Piper to, "say goodbye."  She was ahead and facing away from me, when she turned, waved, and spoke the word, "bye." SHE HEARD ME AND SPOKE!!! Every week thereafter for the next two months showed marked improvement.  By this time we were well into a wean from Prednisone, had added Lamictal (as a back up med to hold the seizures at bay), and were feeling pretty confident and optimistic about her treatment. Shortly after her 3rd birthday, I noticed Piper had become more aggressive than usual, showing behavior such as biting and hitting. I was alarmed, as looking back, this type of behavior was one of the first tell-tale signs in the beginning that presented itself alongside her language regression.  There were also days I wouldn't hear her talk as much, or not recall a word she was able to use the day before, or not turn when I called her name. Each time my heart would sink. Is she regressing, or being a defiant 3 year old? Her EEG's were the only way to know for sure.  She had become a pro at the once formidable process. Between iPad music videos of her favorite songs, and flipping through pictures on our phones, we could get through the 45 min setup, no problem. We anxiously looked forward to each test to assure that we were on the right track, and that she was on her way to recovery. 7 months into treatment we were almost off steroids entirely, down to just a small dose every other day. Then in our next EEG visit our confidence was completely drained. Her ESES had come back. Not just a little, it was back in full.  Feeling heartbroken, we were back to square one.

Piper is now five months into her second round of steroids and is doing well. Although it was hard to repeat the harsh changes that her body has had to endure with treatment, we were grateful that the medication was again effective in clearing her ESES. We are doing a slower wean this time; she is currently at 5mg twice a day, with the addition of Lamictal and Depakote. Her progress is slow but still forward moving. Sadly enough, it doesn't seem to be a question of, "if" her ESES will return, but rather, "when." as our neurologist has warned. It seems unlikely that we will get rid of ESES altogether, the best we should hope for is to manage it with the least amount of developmental loss until she grows out of it. 

ESES or not, everyday is a blessing with Piper. We have our hard days, but for the most part she is a, cute, ridiculously silly, smart, fun, kind-hearted, and loving, little girl that we couldn't imagine any other way. I feel it is important to share her story so other families unaware of this syndrome and other similar types of epilepsy, have a better chance of getting a correct diagnosis for their children at an early onset. When I hear of kids at the age of 10 getting a diagnosis, only after years of missed development, it breaks my heart. Little is known still about what causes LKS, or exactly why some treatments work for some patients, while having little effect for others. Hopefully sharing our stories will provoke more of the right questions that should be asked so that the answers we need can be found. I have hopes that raising awareness will also elicit much needed research, that can lead to improved and more effective methods of treatment for affected children.

I believe answers are there to be discovered if we search hard enough.  It may take a mix of medicine, magic, and miracles to help our little girl, but I have faith that she will one day overcome LKS and live a full and happy adult life. Until then though, we are loving and supporting her the best way we know how, one day at a time. 

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