So yesterday was very interesting. Because Ronnie is having more seizures, neurogoly wants us to increase one of her meds (topomax) which of course, is the most expensive one. We are going to give her a couple of extra days just to see if maybe she was overly tired from lack of sleep, insomnia being a side effect of Angelman syndrome. Thankfully she usually stays fairly quiet, a situation that from my understanding is not all that common among AS kids.
Anyway we are going to give her a couple of extra days and maybe by the weekend we'll increase the dosage.
As for Emma, she's just weird. I love the kid to death but when she is upset, she is Goth to the end but when she is happy she is so ebullient its almost weird; funny but weird. We've started using Evening Primrose Oil to treat PMS symptoms so maybe that is having an effect? I'll keep you posted. What I do know for sure is that right now all seems to be right with her world which reduces the stress on us. I think (I hope) we (meaning Brian) are taking on less of her stress which in turn is reducing the swirling vortex of misery effect.
Let's hope it lasts.
'til next time
Showing posts with label seizures. Show all posts
Showing posts with label seizures. Show all posts
Wednesday, November 17, 2010
Thursday, October 21, 2010
Ronnie's story or how an angel got her wings
So I thought it should put down Ronnie's story just in case someone ever wonders what she is all about.
Ronnie has Angelman syndrome. This is caused by a genetic mutation on Chromosome 15. She is actually missing an infinitesimally small piece of the maternal chromosome. The more obvious side effect of the missing piece is what is explained as 'global development delay'. As I write this she is a happy go-lucky 9 year old who does not walk independently, does feed herself and doesn't talk (although she does babble a heck of alot). She does use a walker at school as well as a tricyle (but fair warning, she is a speed demon who doesn't quite understand the brakes or why she has to hold the handlebars...). If you want more information, see the following links: http://www.angelmancanada.org/ or http://angelman.org/
When she was very little, I remember her older sister asking 'Ronnie's gonna talk next week, right?' There was just no way to know at that time that talking was just not something she would ever excel at (unlike her sister). She does have some sounds that mean certain things and ways to get some of her needs/wants known but it often becomes a bit of a guessing game.
Anyway, when Ronnie was about 9 months old or so I remember asking her pediatrician if there was a connection between the vaccines an autism (something that is still hotly debated) and he said No. I remember telling him that I was worried that she wasn't hitting her milestones and that compared to her sister, she was really late. His answer was that there was a range to these milestones and not to worry. I also remember telling him that she would do this weird thing that looked like she was almost falling asleep for a second and then her head would basically bop back up like normal. Again, he told me not to worry, she was probably just really tired. Little did we know these were seizures.
Anyway, fast forward to almost 1 year later and Ronnie is really sick with a big fever. We were getting the girls ready for bed when I suddenly realized that she wasn't moving and was just lying there not responding to anything. I picked her up and kind of tapped her chest... still nothing... her eyes were open and she was staring at the ceiling. All of a sudden, like a cold slap, I realized she was having an absence seizure. That was a scary sight that I will never forget. Anyway, so we called 911 and they brought her to the hospital where she proceeded to stay for the next ten 10 while undergoing so many tests that she was stoned for like 4 days...
At the end of the stay, all we knew was that she was diagnosed with rule-out Mayple Syrup Urine Disease (metabolic disorder) which led us to Genetics at the Montreal Children's hospital and that she might have cerebral palsy. Oh, and the seizures? She was having an average of 50-70 a day and no one realized....
I'll have to continue tomorrow as it is Ronnie's bedtime and daddy is at Karate...
Ronnie has Angelman syndrome. This is caused by a genetic mutation on Chromosome 15. She is actually missing an infinitesimally small piece of the maternal chromosome. The more obvious side effect of the missing piece is what is explained as 'global development delay'. As I write this she is a happy go-lucky 9 year old who does not walk independently, does feed herself and doesn't talk (although she does babble a heck of alot). She does use a walker at school as well as a tricyle (but fair warning, she is a speed demon who doesn't quite understand the brakes or why she has to hold the handlebars...). If you want more information, see the following links: http://www.angelmancanada.org/ or http://angelman.org/
When she was very little, I remember her older sister asking 'Ronnie's gonna talk next week, right?' There was just no way to know at that time that talking was just not something she would ever excel at (unlike her sister). She does have some sounds that mean certain things and ways to get some of her needs/wants known but it often becomes a bit of a guessing game.Anyway, when Ronnie was about 9 months old or so I remember asking her pediatrician if there was a connection between the vaccines an autism (something that is still hotly debated) and he said No. I remember telling him that I was worried that she wasn't hitting her milestones and that compared to her sister, she was really late. His answer was that there was a range to these milestones and not to worry. I also remember telling him that she would do this weird thing that looked like she was almost falling asleep for a second and then her head would basically bop back up like normal. Again, he told me not to worry, she was probably just really tired. Little did we know these were seizures.
Anyway, fast forward to almost 1 year later and Ronnie is really sick with a big fever. We were getting the girls ready for bed when I suddenly realized that she wasn't moving and was just lying there not responding to anything. I picked her up and kind of tapped her chest... still nothing... her eyes were open and she was staring at the ceiling. All of a sudden, like a cold slap, I realized she was having an absence seizure. That was a scary sight that I will never forget. Anyway, so we called 911 and they brought her to the hospital where she proceeded to stay for the next ten 10 while undergoing so many tests that she was stoned for like 4 days...
I'll have to continue tomorrow as it is Ronnie's bedtime and daddy is at Karate...
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