6/3/05
My daughter, Jade, has had intractable epilepsy since 3 1/2 mos. of age. We even think she had a seizure her second day of life while in the hospital. It's been an uphill battle trying to figure out what's wrong with Jade. Preliminary findings indicate that her MRI is normal (with a small blood vessel abnormality of no reported significance), CT normal, metabolic and genetic workup normal, but seizure activity is right hemisphere predominant and not localized. They noted an early pre-hypsarrhythmic pattern over her right hemisphere (infantile spasms) and they only suspect that she is a surgical candidate at this point. She had a PET scan and her results are perplexing. Unfortunately, she's not a surgical candidate. We are now in the care of a geneticist again, but I don't even know what she will find. I have the hardest time dealing with the eternal waiting game looking for answers, especially for one that may never surface.
On a positive note, Jade has been seizure-free for 2 weeks on her current regimen of Vigabatrin. I do still hold onto the thinking that it's a temporary reprieve since 1) it's a short term prescription, and 2) from what I understand, almost all drugs have their "honeymoon" periods. I'll take what I can get for now though! She has improved ever so slightly physically and her eye problem is improving. I can only hope her eye impairment will resolve on its own or through therapy/surgery. CVI is difficult to overcome and especially so when coupled with seizure activity. Guess time will tell!
Jade has already been on Pheno, Tegretol, Topamax, Lamictal, and is now on Vigabatrin and Klonopin (currently, we're weaning her from the Klonopin, but I've now noticed more aggravated movements) daily. She is developmentally behind in all areas (i.e. does not hold her head up well, does not reach or grab for things, does not focus or track objects, does not sit up without support - to name a few...). Seems the docs do not know what to make of Jade's test results since they all appear normal. Perhaps it's such a microscopic lesion that it may never show up. She also has motor deficiencies (she is in constant state of motion, especially with her legs) too often. Also of great concern to me is that Jade rarely cries, smiles (if so, it may be reflexive) or laughs. No doctor has an answer for me about these questions either. Nothing like giving a series of vaccinations and not hearing your child scream, or digging for a vein to insert an IV without hearing a peep from her. I'm worried that she will never register emotions... On a good note, she did actually cry today, just a little (when she spit up through her nose). My need for a ray of sunshine is great. I have not read much promising material about Infantile Spasms and am doing my best to hold onto what little optimism is left. Whatever went wrong with Jade has been devastating to her development.
6/16/05
Jade is beginning to have the spasm part of Infantile Spasms. She stopped having her "big" seizures a couple/three weeks ago, but for the past 1-2 weeks has begun having startle spasms. The number of them are growing daily. So....the doctor is upping her Vig to the max limit (500mg 3x per day) in the hope that it will banish them. If not, on to ACTH.
6/23/05
We began ACTH injections, 40 units once per day. Spasms began decreasing in number and frequency after third day.
Little is known about CDKL5. I am hoping by creating this blog, word will get out and parents will communicate more if their child(ren) have been diagnosed with this mutation. It is a devastating neurological condition causing a variety of problems, intractable epilepsy being one of the primary signs. Welcome to our blog...
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Our peanut in a nutshell...
Hi everyone! Thanks for visiting my blog. My name is Jade and I am currently 8 years old. I have a big sister and a big brother whom I love very very much.
I have a very rare neurological disorder that isn't even named yet! It is a genetic mutation called CDKL5. It is considered a variant of Rett Syndrome and presently, I am only one of around 600 or so children in the world documented to have this mutation. Each child is unique in that his or her symptoms vary quite a bit. Unfortunately, I am one of those children who is affected much more severely than most of the kids.
Some of the problems I face include:
Reflux (in October 2006, I had surgery to have a Nissen Fundoplication done and to have a gastrostomy tube inserted for feedings). As of March 2012, I have a GJ tube for continuous feeds.
I am hypotonic - I have virtually no muscle tone and I find it difficult to even hold my head up on my own.
I have cortical vision impairment - my brain doesn't process the images it sees. Sometimes I see off to the side, sometimes, my vision is shuttered, sometimes I don't have any vision at all. The doctors and my Mom and Dad don't really know how or what I see because I can't tell them.
I cannot talk nor communicate with gestures.
I cannot walk, nor will I ever walk.
I grind my teeth. So much so, that some loosen during seizures.
I cannot grasp objects or use my hands for the simplest of tasks.
I cannot sit on my own. I can, however, sort of roll over from side to side.
I am choreoathetoid. I cannot control the jerky movements my arms and legs make.
I have life-threatening seizures every day. This is my greatest challenge.
So, now that you have gotten to know me, please feel free to take a stroll around my blog. Some of it you read may seem depressing, horrible, unfathomable, and downright crazy. But, this is my life.
I have a very rare neurological disorder that isn't even named yet! It is a genetic mutation called CDKL5. It is considered a variant of Rett Syndrome and presently, I am only one of around 600 or so children in the world documented to have this mutation. Each child is unique in that his or her symptoms vary quite a bit. Unfortunately, I am one of those children who is affected much more severely than most of the kids.
Some of the problems I face include:
Reflux (in October 2006, I had surgery to have a Nissen Fundoplication done and to have a gastrostomy tube inserted for feedings). As of March 2012, I have a GJ tube for continuous feeds.
I am hypotonic - I have virtually no muscle tone and I find it difficult to even hold my head up on my own.
I have cortical vision impairment - my brain doesn't process the images it sees. Sometimes I see off to the side, sometimes, my vision is shuttered, sometimes I don't have any vision at all. The doctors and my Mom and Dad don't really know how or what I see because I can't tell them.
I cannot talk nor communicate with gestures.
I cannot walk, nor will I ever walk.
I grind my teeth. So much so, that some loosen during seizures.
I cannot grasp objects or use my hands for the simplest of tasks.
I cannot sit on my own. I can, however, sort of roll over from side to side.
I am choreoathetoid. I cannot control the jerky movements my arms and legs make.
I have life-threatening seizures every day. This is my greatest challenge.
So, now that you have gotten to know me, please feel free to take a stroll around my blog. Some of it you read may seem depressing, horrible, unfathomable, and downright crazy. But, this is my life.
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