Lily's Story (Welcome to CDKL5)

I want to welcome you to this new and strange world of CDKL5. A world that can be overwhelming and frightening, yet amongst all the fright, there is an abundance of warmth and blessings. I promise you this.
Although I am not new to our special girl, LilyAnna Blu age 7, we are fairly new to CDKL5 as well and it has been like an odd treasure hunt finding this diagnosis. Lots of closed doors and windows opened. I wonder at times, would it have been easier getting diagnosed after her first seizure? And I don’t know what my answer is. A name would have been nice. I could have saved myself a lot of blame, but would I change anything? I don’t think so. Our treasure hunt was not a waste of time, it was the way our story unfolded and shaped our lives and maybe most people wouldn’t think a diagnosis of a disorder that robs your child of so much would be a treasure, but when you you’ve spent years asking why, when you finally get that answer, weights are lifted.
Our story is so much like many other CDKL5 families in the beginning. Witnessing the gut wrenching site of watching your infant, in our case it was our 3 week old, having a seizure. Then just bomb after bomb, it was like standing under fire with no protection. Putting an IV in her tiny veins, pumping her full of medicine that knocked her out, CT Scan, I remember watching her tiny body lie on that machine sucking her green paci. That same paci the hospital gave her three weeks ago when she was just a typical new born baby. Don’t cry I pleaded with myself. Don’t cry. Then her first of many hospital admissions, “You mean stay the night?” I dumbly asked the Doctor, “yeah stay here” he replied. And then the first of many EEG’s and a MRI’s and probably the worst to have happened was the lumbar puncture; she was only 3 weeks old! I didn’t want to cry. I really didn’t. I was so young and I thought I had to be so strong, but I felt like I was being held under water and I couldn’t breathe. What is wrong with my baby? After all that they said every test was normal. “Keep giving her the Phenobarbital and follow up with the Neurologist” they said, “She should be just fine”. I wish I was able to hold them to that.
From then on it was hospitalization after hospitalization for seizures. They did Video EEG’s, we tried the Ketogenic Diet. They tried different variations of medications. They implanted a Vagus nerve stimulator. They did brain surgery. All to no avail! I was so angry for awhile. I felt like I was living in darkness, I didn’t understand and I was screaming why! I blamed the seizures and medication for her lack in development. I figured if she could stop seizing she would hold her head up. If she would not have to take so many medications, she’d start to roll over. If we could get the right med combo maybe she’d say mama. I so badly wanted to stop the seizures and know why she was having them. It made no sense to me that every test came back normal. It was so obvious things weren’t normal! We needed an answer! An answer could lead to treatment. An answer could lead to something. Right?
A neuro appointment a few weeks after our 2nd (surprise!) baby was born Lily was prescribed a medication that was not FDA approved in the US (at that time) and we got it from Canada and the very next day Lily stopped having the grand mals seizures. It was like a miracle. Unfortunately Lily has never been seizure free; when we stopped the grand mals she started having other types of seizures, but not nearly as detrimental. She was more alert and functioning better having that control. But I was surprised and even a little saddened by finding out that even with the slow down in seizures, her development was still very slow moving.
Years into this seizure disorder and still no one could tell me why her seizures were so severe. Why she was not developing. Why she was visually impaired. Lily had been tested for every syndrome, disease and disorder under the sun. One diagnosis that we kept coming back to was Rett Syndrome, Doctors would say she seems so much like a “Retts girl” but her symptoms didn’t present like typical Retts and every test ran was negative for it. I sent her records to Boston, we took her to UCSD to see a metabolic specialist; this was after I had exhausted all services locally here in Arizona. I was hell bent on finding her diagnosis. I exhausted every doctor that came within arms reach of me.
Lily was 6 years old and I was 6 months pregnant with our, not a surprise but please God help me, third child when I got a call saying that test we had done 2 years prior that was negative for CDKL5 was retested and she was positive. What a mind boggling phone call! I had known in my heart that Lily would be diagnosed with Atypical Rett Syndrome. The shoe fit! I fought for that test and when it was negative in 2006 I was devastated. So imagine my surprise 2 years later I was called with results I knew all along. 6 years of second guessing everything. 6 years of unanswered questions answered out of the blue on a sunny October morning.
I felt revived! I felt vindicated! It wasn’t anything I did. She had a mutation on a gene, a spontaneous mutation that didn’t come from me or my husband. We had an answer and I knew at this time we don’t have treatment but now we had a name to fight!
At 7 LilyAnna, is in a wheelchair but does like to walk with assistance, she can sit unassisted but she’d rather roll on the floor, she is spoon fed, but always eats by mouth. She has a sweet voice and although she says no words she is very loud. I say she is the loudest “non verbal” kid around. She shows excitement by yelling and it makes us all laugh. I do feel the biggest part of our relationship with her that CDKL5 robbed us of is her words. I dream of her talking to me and I will wake up feeling empty. I know there is so much behind her bright blue eyes that she can’t verbally express and I do feel sad for that, and I probably always will.
Lily is surrounded by a loving family and team of professionals that all work to make sure she is happy, comfortable and living a life of quality. My husband and I are involved in every decision we make medically and we laugh at the fact that me, the girl who barely survived chemistry, is now helping neurologists prescribe anti epileptic drugs. My husband and I are a team and without him I’m sure I’d have been committed by now. He is my, “look the glass is half full Kim”, when the glass looks so empty to me. And parenting Lily’s healthy and “typical” little sister and brother have enriched our lives to the fullest. Having Lily first taught us not to let one milestone slip by and taken for granted and they all get so much out of each other by being each others siblings.
At the beginning I spent so much time asking God why me, why her, why us and it took quite some time for me to accept things the way they were. And sure there are days that I’m exhausted, tired and frustrated, but I know we know we are meant to be her parents and I am grateful everyday for the blessing she has been to us and I only wish that one day I would be able to teach her half of what she has taught me.
So welcome. Our travels may have been different, but we all managed to end up here. While it’s not a place we planned. And it’s probably not a place you wanted to be. Welcome. Take your time getting acquainted with it. You’ll be happy here. Maybe not every day and maybe you’ll want out from time to time, but I promise you will be blessed for being here.

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