Since I have clearly been a slacker and have not been updating this blog as I should be, here is a quick overview of all the stuff that has been going on with us and Elle.
Elle had been seizure free since December. In early April, she had her first break-through seizure. I found her in her crib and was able to rush her to the ER that is about 10 minutes away. She recovered and came home early that evening. The next morning, I got up to go to the gym before Andy left for work. When I came home an hour later I found Rescue in front of the house! Andy, being the great daddy that he is, didn't hear Elle stirring at her usual time that morning. He went in to check on her and found her having another seizure. This one was a bit more involved than the day prior. They got Elle downtown to Wolfsons Children Hospital where she was admitted into the PICU and stayed for 3 days. During this time Elle was found to have developed bi-lateral cataracts !! Cataracts? How the hell does a baby get Cataracts?? We may never know that answer to that question as all the blood tests came back negative. Elle needed surgey on both eyes to regain her eye sight. How many times can a heart break? We got through 6 weeks of Elle not being able to see a thing. She had surgery on her right eye on April 30th and her left eye on May 14th. Fortunately, she was able to receive a lens implant in each eye, eliminating the need for contact lenses. Thank GOD because I can hardly get my own in some days let alone a squirming babies! Elle's eyes healed nicely from her surgery and she will return to see Dr. Hunter in 3 months to find out if she will need eyeglasses. We have seen a huge difference in the things Elle does now that her eyesight has returned :)
It seemed like things were OK for a bit. Elle's surgery was behind us and we were moving forward. Then on Tuesday, Elle suffered another seizure :( It again happened in the morning after Andy left for work. Rescue arrived within 13 minutes and was able to stop the seizure on the way to the hospital. Elle remained in the ER for a few hours until she was awake and showing signs of being back to her usual self.
Many children with Lissencephaly can suffer 1 to 15 or maybe more seizures a day! No, that wasn't a typo. We are fortunate that Elle's have been far a few between. I don't like that she has now had 3 within 7 weeks. I pray everyday for her to be seizure free.
Through all of this, Elle has learned to reach for her bottle or sippy cup when it is on her high chair tray, pull it to her mouth and drink from it! Last Sunday she got her foot to mouth for the first time ever!! Wooo Hoooo. I was so excited!! 9 months behind, but she did it !!! We're looking forward to getting her back into her Physical and Occupational therapy and also starting speech too!!
Saturday, May 30, 2009
What is Lissencephaly ?
Many people have asked us "What does Elle have"?
As described by the Cleveland Clinic:
What is Lissencephaly?
Lissencephaly, which literally means "smooth brain," is a rare, gene-linked brain malformation characterized by the absence of normal convolutions (folds) in the cerebral cortex and an abnormally small head (microcephaly). It is caused during embryonic development by defective neuronal migration, the process in which nerve cells move from their place of origin to their permanent location. Symptoms of the disorder may include unusual facial appearance, difficulty swallowing, failure to thrive, muscle spasms, seizures, and severe psychomotor retardation. Hands, fingers, or toes may be deformed. Lissencephaly may be associated with other diseases including isolated lissencephaly sequence, Miller-Dieker syndrome, and Walker-Warburg syndrome.
Is there any treatment?
The severe malformations of the brain in lissencephaly most likely will not respond to treatment. Normal supportive care may be needed to help with comfort and nursing needs. Seizures may be controlled with medication. Progressive hydrocephalus (an excessive accumulation of cerebrospinal fluid in the brain) may require shunting. If feeding becomes difficult, a gastrostomy tube may be considered.
What is the prognosis?
The prognosis for children with lissencephaly depends on the degree of brain malformation. Many will die before the age of 2. Some will survive, but show no significant development beyond a 3- to 5-month-old level. Others may have near-normal development and intelligence. Children with lissencephaly often die from aspiration of food or fluids, or from respiratory disease.
As described by the Cleveland Clinic:
What is Lissencephaly?
Lissencephaly, which literally means "smooth brain," is a rare, gene-linked brain malformation characterized by the absence of normal convolutions (folds) in the cerebral cortex and an abnormally small head (microcephaly). It is caused during embryonic development by defective neuronal migration, the process in which nerve cells move from their place of origin to their permanent location. Symptoms of the disorder may include unusual facial appearance, difficulty swallowing, failure to thrive, muscle spasms, seizures, and severe psychomotor retardation. Hands, fingers, or toes may be deformed. Lissencephaly may be associated with other diseases including isolated lissencephaly sequence, Miller-Dieker syndrome, and Walker-Warburg syndrome.
Is there any treatment?
The severe malformations of the brain in lissencephaly most likely will not respond to treatment. Normal supportive care may be needed to help with comfort and nursing needs. Seizures may be controlled with medication. Progressive hydrocephalus (an excessive accumulation of cerebrospinal fluid in the brain) may require shunting. If feeding becomes difficult, a gastrostomy tube may be considered.
What is the prognosis?
The prognosis for children with lissencephaly depends on the degree of brain malformation. Many will die before the age of 2. Some will survive, but show no significant development beyond a 3- to 5-month-old level. Others may have near-normal development and intelligence. Children with lissencephaly often die from aspiration of food or fluids, or from respiratory disease.
Why I keep this blog.
When I think back to why I started this blog, I recall a few reasons. I thought it would be a great way to keep friends and family up to date with what was going on in our life. It also served as a great way to chronicle all the things Elle was doing and lastly, I hoped that one day, Elle could go back and read it for herself. I still do it for the same reasons plus one. I have recently joined an online group called "The Loop"...The Lissencephaly Loop, to be exact. I hate that word...Lissencephaly !! Anyway, the group is made up of parents & grandparents of children with Lissencephaly. It is a place that I can go anytime I want or need to to connect with other parents going through many of the same challenges we go through with Elle. Many of the families also maintain blogs and have been kind enough to share them through out the group. I will NEVER forget the day we were told that Elle's CAT scan came back "abnormal", then the MRI came back "abnormal" I can't begin to describe the feelings and emotions that raced through my body...The words..."prepare for quality of life" came out of the Dr.s mouth along with other things that to this day I can not let pass through my lips. I hope that other parents that find themselves in that same position can come here and see pictures of Elle and read about all of the things she is doing so that they can see that our children CAN learn and do. If we would have listened to the Dr.s and just brought Elle home and "played" with her I don't think she would be doing some of the things she is doing today. We push her, we have to. It sounds crazy that we push our 15 month old, but sometimes it is the only way she will learn and gain the ability to do something she otherwise would not have been able to do. Lissencephaly is an awful, awful brain disorder and the majority of these children will not crawl or walk or talk and will be severely mentally disabled but if you believe that is all your child will be...then that IS all they will be. We play with Elle, we talk to Elle, we take Elle to the Zoo, we blow bubbles, we go to the park and swing on the swings, we go on play dates, we go shopping... we will take her to Disney World. We will do all the things with her that we would do if she didn't have this brain disorder. We chose to give her an opportunity to learn and see and do. We know that her reaction to some of these experiences will probably not be those of other children, but we still give her the opportunity. Other parents have kids who reach "milestones"...our milestones have been broken down into pebbles but each one is still just as special and exciting.
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