So first the most exciting news, Lily has been granted a wish by the Make A Wish Foundation! The wish granters are coming out Saturday to get her wish and then the ball will be rolling on that. We are really excited about this. She wants to go to Disney World. Groovy!
Everyone has been sick on and off here and it's just the beginning of winter! Hopefully we will all get a break soon.
That's it for now. I am still not feeling 100% and need to chill for a bit.
Thursday, December 16, 2010
Saturday, December 11, 2010
Quick update on CJ's Results
CJ's test results came back (drum roll please).............................NORMAL!!!!! Yay! We are so very happy!
Next they want to test Tracy and myself to see if we have NAA in our urine.....so look for future updates on that.
Also next week I am going to post some pretty cool links about organizations that provide support and fun activities for families with children that have life threatening or chronic illnesses. So keep your peepers open for that!
Next they want to test Tracy and myself to see if we have NAA in our urine.....so look for future updates on that.
Also next week I am going to post some pretty cool links about organizations that provide support and fun activities for families with children that have life threatening or chronic illnesses. So keep your peepers open for that!
Tuesday, December 7, 2010
The Biggest Question
The biggest and most often asked question I get is am I angry with the medical community. I am not, but I am completely disenchanted with the medical community, that's for sure. I thought we (we begin the medical community) knew a WHOLE lot more than we actually do. Not just with the Canavan but as I delve deeper into this realm of genetic issues, I am coming across a large amount of parents with children that have all sorts of difficulties and challenges that the medical community knows that is caused by genetic mutations, duplications, and deletions, but they don't know what to do about it and can only guess what the out come will be. Once upon a time I believe the medical community could fix just about anything. Now that fairy tale is long gone.
Many people say to me, don't accept I don't know from the medical community. I think I am growing a bit frustrated with this misguided but well meaning advice. As I tell my husband, the medical community only knows what it knows. I certainly don't want them just making things up and I much more respect a doctor that will look at me and say I don't know as opposed to one that tried to hide his/her lack of knowledge by spouting a bunch of medical terms and making up nonsense.
I think it's best to keep in mind that I don't know is not the answer they want to give to us. But right now it's the only one they have.
In June we are going to NY to the Canavan Research and Family Conference. I am really looking forward to this and hope that maybe we will get some more answers about the mild variant of Canavan. It's very hard to find any info online about the mild form of Canavan but until recently it has largely went undiagnosed. This is one of the reasons that all they can say about what is going to happen to Lily is they don't know. This is a new and emerging diagnosis, so not much is known about the mild variation. I am very interested to see in the next 10 years how many children are diagnosed with this mild variant of Canavan.
Oh and here is an interesting tidbit for you......I may have said it before but I can't remember so I am going to say it again.........counting Lily all the children that know of in the USA that have been diagnosed with this mild variant of Canavan are all girls. Now whether that is because boys that have this mild variant are being misdiagnosed with other things or if boys aren't capable of having just the mild variant I don't know but I am leaning more towards misdiagnosed as something else.
And speaking along these lines........CJ just recently was tested for NAA in his urine. Now those of you who know us know that CJ doesn't have seizures are anything like that at all. Lily however was also symptom free until having the seizures and still that is the only issue at this point in time. Due to that, Lily's Geneticist felt it was a good idea to have him tested. So now we wait. If he does come back with NAA in his urine it will make it easier for us to get the genetic testing for Canavan done. However, if not than we are going to have all kinds of red tape to go through to get his testing done. Good times!
Many people say to me, don't accept I don't know from the medical community. I think I am growing a bit frustrated with this misguided but well meaning advice. As I tell my husband, the medical community only knows what it knows. I certainly don't want them just making things up and I much more respect a doctor that will look at me and say I don't know as opposed to one that tried to hide his/her lack of knowledge by spouting a bunch of medical terms and making up nonsense.
I think it's best to keep in mind that I don't know is not the answer they want to give to us. But right now it's the only one they have.
In June we are going to NY to the Canavan Research and Family Conference. I am really looking forward to this and hope that maybe we will get some more answers about the mild variant of Canavan. It's very hard to find any info online about the mild form of Canavan but until recently it has largely went undiagnosed. This is one of the reasons that all they can say about what is going to happen to Lily is they don't know. This is a new and emerging diagnosis, so not much is known about the mild variation. I am very interested to see in the next 10 years how many children are diagnosed with this mild variant of Canavan.
Oh and here is an interesting tidbit for you......I may have said it before but I can't remember so I am going to say it again.........counting Lily all the children that know of in the USA that have been diagnosed with this mild variant of Canavan are all girls. Now whether that is because boys that have this mild variant are being misdiagnosed with other things or if boys aren't capable of having just the mild variant I don't know but I am leaning more towards misdiagnosed as something else.
And speaking along these lines........CJ just recently was tested for NAA in his urine. Now those of you who know us know that CJ doesn't have seizures are anything like that at all. Lily however was also symptom free until having the seizures and still that is the only issue at this point in time. Due to that, Lily's Geneticist felt it was a good idea to have him tested. So now we wait. If he does come back with NAA in his urine it will make it easier for us to get the genetic testing for Canavan done. However, if not than we are going to have all kinds of red tape to go through to get his testing done. Good times!
Wednesday, November 17, 2010
Good News!
So got some good news from the Dr today. Lily's sleep apnea is gone! Yay! So that means that Lily's centralized sleep apnea was cause by her obstructed sleep apnea and not cause by the Canavan. So this is totally awesome!!
Sunday, November 14, 2010
Potentionally Life Threatening or just life threatening
So this isn't going to be a happy blog post. Nothing has happened to Lily or anything like that. I just need to pen some ponderings that have been on my mind.
So I know how to explain traditional Canavan to people but with the form that Lily has I am never sure what to say......potentially life threatening or just life threatening. And at this point the doctors can't tell me either way. From my own personal research I have found only three others (all girls btw) with this mild type of Canavan. So the medical community can tell me nothing at this point. And what a horrible thing to ponder! No parent should ever have to ponder such a question or be given the news that their child has a condition that may or will kill them.
And I have gone through the question, why us? I always arrive at the same answer....why not? I guess in the grand scheme of things someone has to be that one person or family with the issue. Guess our number was up. Not really a good answer I know, but it's the only one I can come up with.
I deal with it all the best way I can. Maybe I am in denial but I don't think that me daughter will die. That is not something that I would be able to ever consider or face. I guess that is why her seizures scare me so bad. They could easily take her from us.
You know, until this all happened I thought that our medical community had a handle on so much, that they really knew it all. When I would read in the paper, so-and-so was taked to EYX hospital and later died I would think to myself, how is that possible? With all our medical know how, how are young healthy people with injuries dying at the hospital. The biggest thing I have learned in all this is that our medical community doesn't know jack. Don't get me wrong, I know they are trying but I have been amazed at how many times I have heard We don't know....when it comes to my daughter. This is from the seizures to the Canavan. I have been simply amazed and lost some of my naive. I miss that naive whole bunches.
Lily looks like such a healthy girl and for the most part she is. But then I have seen what many haven't. When her brain waves are out of control and they refuse to stop misfiring. When her body can't control herself and God willing she isn't aware of what is going on. I hope against hope that when she seizes that she is in a dream like state and has no idea what is happening. All the doctors can tell me is we don't know. Don't know if she is aware when she is having the seizures, don't know if we can control her seizures, don't know if the Canavan will progress, don't know if the Canavan will eventually claim my percious baby girl. My biggest fears is one of these seizures they will not be able to stop and she will seize to death. There lies my very deepest fear.
And I know that I should be grateful because things could be so much worse and I do know that and am grateful. But there are certain things that I mourn for my daughter. What about sleep overs when she gets older? What parent is going to feel comfortable with her, confident enough that if she has a seizure they will be able to handle it? And who would I feel comfortable enough to allow that kind of trust? What about her getting a drivers license? What is she has a seizure (patterns can change) during the day at school? Children can be very cruel! I want to beg those children in my mind to please be nice to my baby....it's not her fault. She is no different that you except that sometimes her brain won't behave. But you won't catch it from her.
My biggest fear outside of death is that children will be mean to her and she won't have any friends. I think back to high school to a girl there who had epilepsy. Her name was Suki and she had very few friends. Now I am ridden by guilt and pain. Why didn't I befriend her? Simple...ignorance and I was afraid. If only you could go back in time and correct those mistakes that hit you like a lead ball to the gut.
Sorry this is such a dark post but these things have been bouncing around in my head for weeks and I needed to get them out.
So I know how to explain traditional Canavan to people but with the form that Lily has I am never sure what to say......potentially life threatening or just life threatening. And at this point the doctors can't tell me either way. From my own personal research I have found only three others (all girls btw) with this mild type of Canavan. So the medical community can tell me nothing at this point. And what a horrible thing to ponder! No parent should ever have to ponder such a question or be given the news that their child has a condition that may or will kill them.
And I have gone through the question, why us? I always arrive at the same answer....why not? I guess in the grand scheme of things someone has to be that one person or family with the issue. Guess our number was up. Not really a good answer I know, but it's the only one I can come up with.
I deal with it all the best way I can. Maybe I am in denial but I don't think that me daughter will die. That is not something that I would be able to ever consider or face. I guess that is why her seizures scare me so bad. They could easily take her from us.
You know, until this all happened I thought that our medical community had a handle on so much, that they really knew it all. When I would read in the paper, so-and-so was taked to EYX hospital and later died I would think to myself, how is that possible? With all our medical know how, how are young healthy people with injuries dying at the hospital. The biggest thing I have learned in all this is that our medical community doesn't know jack. Don't get me wrong, I know they are trying but I have been amazed at how many times I have heard We don't know....when it comes to my daughter. This is from the seizures to the Canavan. I have been simply amazed and lost some of my naive. I miss that naive whole bunches.
Lily looks like such a healthy girl and for the most part she is. But then I have seen what many haven't. When her brain waves are out of control and they refuse to stop misfiring. When her body can't control herself and God willing she isn't aware of what is going on. I hope against hope that when she seizes that she is in a dream like state and has no idea what is happening. All the doctors can tell me is we don't know. Don't know if she is aware when she is having the seizures, don't know if we can control her seizures, don't know if the Canavan will progress, don't know if the Canavan will eventually claim my percious baby girl. My biggest fears is one of these seizures they will not be able to stop and she will seize to death. There lies my very deepest fear.
And I know that I should be grateful because things could be so much worse and I do know that and am grateful. But there are certain things that I mourn for my daughter. What about sleep overs when she gets older? What parent is going to feel comfortable with her, confident enough that if she has a seizure they will be able to handle it? And who would I feel comfortable enough to allow that kind of trust? What about her getting a drivers license? What is she has a seizure (patterns can change) during the day at school? Children can be very cruel! I want to beg those children in my mind to please be nice to my baby....it's not her fault. She is no different that you except that sometimes her brain won't behave. But you won't catch it from her.
My biggest fear outside of death is that children will be mean to her and she won't have any friends. I think back to high school to a girl there who had epilepsy. Her name was Suki and she had very few friends. Now I am ridden by guilt and pain. Why didn't I befriend her? Simple...ignorance and I was afraid. If only you could go back in time and correct those mistakes that hit you like a lead ball to the gut.
Sorry this is such a dark post but these things have been bouncing around in my head for weeks and I needed to get them out.
Saturday, November 13, 2010
Tomorrow, tomorrow, tomorrow
Tomorrow on 106.9 between 7:00-7:30 am they will be playing an interview with my husband. You can listen to it locally on your radio if you are in NE Ohio. If you are not local you can listen on their site at http://www.wrqk.com/main.html Click on listen live.
Saturday, November 6, 2010
From the start to present
Howdy all,
What I am going to do is go through the entire story of Lily's diagnosis from the beginning to present. I realize that if you don't know us personally you may not know the whole story, so this should fill in the gaps. This is going to be long but I am going to try to summarize as best I can without losing important details.
On Dec 14, 2009 exactly one month to the day before Lily turned 3, she had her first seizure which lasted 45 minutes and was ruled . She had a CAT scan that came back a-ok and an EEG that came back normal as well. So they felt it was only a one time thing and after some time in the hospital for observation sent us home.
On Jan 24, Lily had her second seizure. This seizure lasted about 10 minutes and she came out of this one on her own. She was not kept at the hospital over night but they did keep her for a bit for observation. We were then encouraged to make an appointment with a neurologist which we did.
In Feb Lily had another EEG. I totally expected it to come back normal, but it didn't. She was having erratic brain waves very often. The Neurologist dropped that bomb in my lap and told me that Lily had Epilepsy and would need to be on meds. With that he sent us on our way, never asking if we had any questions, etc, etc. As you can tell I wan not really impressed with this guy. I am not going to name him here but if you want to know who, just shoot me an e-mail. Anyway, this Dr. ordered a MRI. We made an appointment with a different Neurologist (and I am SO glad we did!). In March we had the appointment with the new Neurologist. She was and still is fabulous! She gave us a through education on seizures, etc.
In April Lily had her MRI. She also had a seizure that last 1 and 1/2 hours. She also had her tonsils and adenoids out. I strongly felt that Lily's seizures were being caused by a very bad sleep apnea she had from her enlarged adenoids. Towards in end of the month her neurologist asked us to come in so she could discuss the findings on her MRI. Lily was having bilateral signals arising from her basal ganglia. This is not right. Signals from the basal ganglia are suppose to be unilateral. So at that point the Nuero was thinking possible Mitochondrial disorder. So we need to do some blood and urine tests.
We went straight away and got those tests done. A few weeks later we went back to get the results. She said it was not Mitochondrial disorder but it may be something called Canavan. As most people I had never heard of Canavan, so she did her best to explain it. She said Lily had a level of NAA in her urine that was 84. She said that he urine NAA should be 0 and to date the only thing that it could point to was Canavan. She also said the test results did not make sense because Lily had none of the signs of Canavan besides the seizures. She said she would need to do some research and then get back to us. After a few weeks she contacted us again. She found a case very similar to Lily's and she wanted us to see a Geneticist. She had wanted to conduct a bunch of tests on Lily including a skin biopsy and a fMIR but she felt with how much Lily had been through she didn't want to put her through any more.
So in June we went to see the Geneticist. He felt the test results didn't make any sense either as he had a traditional Canavan patient and Lily was so much different than he. But to date there had been nothing else to confirm the findings in he urine. So he wanted to do testing that would give us a yes or no answer. It was a simple blood test but it took months to do. Our insurance company denied to do the test. Because there is no treatment or cure for Canavan I guess the insurance company figures why bother. But um hello we needed to do the test to rule it out or rule it in. So we had to apply thought BCMH which did pay for the test but it took a little over 3 months to get approved.
So jump ahead to August where my sleep apnea theory got blown to hell. On August 19 after 4 and 1/2 months seizure free Lily had another seizure. This one was her shortest ever at just 6-7 minutes. I was bummed but optimistic that since they upped her meds she would be free of seizures for another 4 months. That theory was shot all to hell just a short 10 days later. On August 29th Lily had what was to be her longest seizure ever at 3 and 1/2 hours.
Her Neuro had order some evaluations (physical, occupational, and speech) back in April to make sure that Lily was were she was suppose to be. Also she wanted her to have an eye exam as with Canavan it is common for the optic nerve to atrophy. Well, because I had been clinging to my sleep apnea theory something awful I never made the appointments. These seizures got me off my back side.
Lily has had her physical therapy eval. She is right where she is suppose to be. She has also had the eye examine. Her optic nerve is in perfect condition. So this lead me to believe that they were wrong about the Canavan.
So last week I finally got the call and we have the results. Lily does have atypical or mild, or partial Canavan. With Canavan there are to be two gene mutations with the Canavan mutataion. Lily only has one Canavan mutataion. She does have a second mutataion, but it is one that they have never seen before. The second mutation is not Canavan but they are not sure what it is.
So there is the story in a nutshell. If you have any question, please feel free to ask!
What I am going to do is go through the entire story of Lily's diagnosis from the beginning to present. I realize that if you don't know us personally you may not know the whole story, so this should fill in the gaps. This is going to be long but I am going to try to summarize as best I can without losing important details.
On Dec 14, 2009 exactly one month to the day before Lily turned 3, she had her first seizure which lasted 45 minutes and was ruled . She had a CAT scan that came back a-ok and an EEG that came back normal as well. So they felt it was only a one time thing and after some time in the hospital for observation sent us home.
On Jan 24, Lily had her second seizure. This seizure lasted about 10 minutes and she came out of this one on her own. She was not kept at the hospital over night but they did keep her for a bit for observation. We were then encouraged to make an appointment with a neurologist which we did.
In Feb Lily had another EEG. I totally expected it to come back normal, but it didn't. She was having erratic brain waves very often. The Neurologist dropped that bomb in my lap and told me that Lily had Epilepsy and would need to be on meds. With that he sent us on our way, never asking if we had any questions, etc, etc. As you can tell I wan not really impressed with this guy. I am not going to name him here but if you want to know who, just shoot me an e-mail. Anyway, this Dr. ordered a MRI. We made an appointment with a different Neurologist (and I am SO glad we did!). In March we had the appointment with the new Neurologist. She was and still is fabulous! She gave us a through education on seizures, etc.
In April Lily had her MRI. She also had a seizure that last 1 and 1/2 hours. She also had her tonsils and adenoids out. I strongly felt that Lily's seizures were being caused by a very bad sleep apnea she had from her enlarged adenoids. Towards in end of the month her neurologist asked us to come in so she could discuss the findings on her MRI. Lily was having bilateral signals arising from her basal ganglia. This is not right. Signals from the basal ganglia are suppose to be unilateral. So at that point the Nuero was thinking possible Mitochondrial disorder. So we need to do some blood and urine tests.
We went straight away and got those tests done. A few weeks later we went back to get the results. She said it was not Mitochondrial disorder but it may be something called Canavan. As most people I had never heard of Canavan, so she did her best to explain it. She said Lily had a level of NAA in her urine that was 84. She said that he urine NAA should be 0 and to date the only thing that it could point to was Canavan. She also said the test results did not make sense because Lily had none of the signs of Canavan besides the seizures. She said she would need to do some research and then get back to us. After a few weeks she contacted us again. She found a case very similar to Lily's and she wanted us to see a Geneticist. She had wanted to conduct a bunch of tests on Lily including a skin biopsy and a fMIR but she felt with how much Lily had been through she didn't want to put her through any more.
So in June we went to see the Geneticist. He felt the test results didn't make any sense either as he had a traditional Canavan patient and Lily was so much different than he. But to date there had been nothing else to confirm the findings in he urine. So he wanted to do testing that would give us a yes or no answer. It was a simple blood test but it took months to do. Our insurance company denied to do the test. Because there is no treatment or cure for Canavan I guess the insurance company figures why bother. But um hello we needed to do the test to rule it out or rule it in. So we had to apply thought BCMH which did pay for the test but it took a little over 3 months to get approved.
So jump ahead to August where my sleep apnea theory got blown to hell. On August 19 after 4 and 1/2 months seizure free Lily had another seizure. This one was her shortest ever at just 6-7 minutes. I was bummed but optimistic that since they upped her meds she would be free of seizures for another 4 months. That theory was shot all to hell just a short 10 days later. On August 29th Lily had what was to be her longest seizure ever at 3 and 1/2 hours.
Her Neuro had order some evaluations (physical, occupational, and speech) back in April to make sure that Lily was were she was suppose to be. Also she wanted her to have an eye exam as with Canavan it is common for the optic nerve to atrophy. Well, because I had been clinging to my sleep apnea theory something awful I never made the appointments. These seizures got me off my back side.
Lily has had her physical therapy eval. She is right where she is suppose to be. She has also had the eye examine. Her optic nerve is in perfect condition. So this lead me to believe that they were wrong about the Canavan.
So last week I finally got the call and we have the results. Lily does have atypical or mild, or partial Canavan. With Canavan there are to be two gene mutations with the Canavan mutataion. Lily only has one Canavan mutataion. She does have a second mutataion, but it is one that they have never seen before. The second mutation is not Canavan but they are not sure what it is.
So there is the story in a nutshell. If you have any question, please feel free to ask!
Wednesday, November 3, 2010
Sigh
Ok so we have yet another possible diagnosis for Lily but this one is under related to the seizures and the Canavan. They are thinking that Lily has systematic Asthma. So she is starting an inhaler today. So we will see how that goes.
Sorry if you are waiting on an e-mail back from me. I have been terribly busy with the fund raiser stuff and paperwork for Lily and I am still reeling a bit from her Canavan diagnosis.
Lily has a cold right now which makes me terribly nervous. Illness lowers the threshold on seizures so please keep those prayers coming!!
Sorry if you are waiting on an e-mail back from me. I have been terribly busy with the fund raiser stuff and paperwork for Lily and I am still reeling a bit from her Canavan diagnosis.
Lily has a cold right now which makes me terribly nervous. Illness lowers the threshold on seizures so please keep those prayers coming!!
Wednesday, October 27, 2010
Test results
Well, we got Lily's Canavan test results back. Lily has a mild (or partial) form of Canavan. In a nutshell what that means is she will not out grow her seizures. Long term the Dr feels that it most likely will not progress but that can't say for sure. Lily will need to have various therapy evaluations every 6 months as well as having her optic nerve examined to make sure that the disease is not progressing. So that's all I really know right now...well no there is more that I know but its very complicated and it really doesn't change anything.
Monday, October 11, 2010
Wednesday, October 6, 2010
News and need some assitance
Hiya folks,
So Lily has been approved for her seizure alert dog. As many of you know we need to raise some funds to make this happen. I am not going to get into that until I get all the info from 4 paws (in about a week or so) but I do need some help.
First of all anyone who has any experience with fund raising at all please contact me (lilysfight@gmail.com or contact my on Facebook). I have some questions.
2nd does anyone have a video camera and would be willing to make a short video of Lily for me? Please contact at the info above.
And finally does anyone know where I can buy a cookie cutter that says "Thank you" or "Thanks" that is not too pricey? Please let me know.
Ok will update with more info very soon!
So Lily has been approved for her seizure alert dog. As many of you know we need to raise some funds to make this happen. I am not going to get into that until I get all the info from 4 paws (in about a week or so) but I do need some help.
First of all anyone who has any experience with fund raising at all please contact me (lilysfight@gmail.com or contact my on Facebook). I have some questions.
2nd does anyone have a video camera and would be willing to make a short video of Lily for me? Please contact at the info above.
And finally does anyone know where I can buy a cookie cutter that says "Thank you" or "Thanks" that is not too pricey? Please let me know.
Ok will update with more info very soon!
Tuesday, October 5, 2010
Yay!!!!!
Lily has been approved for a seizure alert dog!!!!! Yay! I will have more details tomorrow!
Thursday, September 30, 2010
Wednesday, September 29, 2010
Got the letter of approval from BCMH and the script is waiting at the Dr's to pick up to get the testing done. So tomorrow we will get the test done tomorrow and the waiting game will begin again. But hey at least we are that much closer to getting some kind of answer. I am very optimistic that it will not be the answer they are expecting.
Still waiting to hear back from 4 paws. I am trying to patient! lol It's not easy. They said it will take 2-3 weeks to get approval and it's been 2 and 1/2. I wanna get the fund raising done so we can get Lily her seizure alert dog. Just the thought of having some kind of warning system in place is amazing! I think we would all manage a lot better if we had more eyes, ears, etc helping us keep an eye on her for seizures. Can't wait!
Still waiting to hear back from 4 paws. I am trying to patient! lol It's not easy. They said it will take 2-3 weeks to get approval and it's been 2 and 1/2. I wanna get the fund raising done so we can get Lily her seizure alert dog. Just the thought of having some kind of warning system in place is amazing! I think we would all manage a lot better if we had more eyes, ears, etc helping us keep an eye on her for seizures. Can't wait!
Saturday, September 25, 2010
Yippie!
Two small victories to report! First Lily had a physical therapy evaluation this past week. She is right where she should be! Yay.
The second victory....her neuro wanted her to see an eye doctor because children with canavan normally have some kind of nerve damage to their optic nerve. Lily's optic nerve is in perfect condition!v YAY YAYAYAYAYAYAY! lol He does want to see her back again in 6 months to check it again but this is really good news. However she does have astigmatism and has to get glasses. But hey that is ok.
The second victory....her neuro wanted her to see an eye doctor because children with canavan normally have some kind of nerve damage to their optic nerve. Lily's optic nerve is in perfect condition!v YAY YAYAYAYAYAYAY! lol He does want to see her back again in 6 months to check it again but this is really good news. However she does have astigmatism and has to get glasses. But hey that is ok.
Tuesday, September 21, 2010
So
So far so good. No more seizures at this point in time. Lily had an appointment with her neuro yesterday. It went ok. She feels as I do that Lily had the two break through seizures due to the cold coming on that she has now. She feels that we are at a good level with the Keppra, but there is room to go up if we need to (and hopefully we won't need to!). She also said it was ok for us to try the diastat at the 3 minute mark instead of waiting the full 5 minutes. My personal theory is that the diastat hasn't worked because she is too far into the seizure to be pulled out by it. The Dr's concern is that Lily will build up a tolerance if it is used to soon and then it won't work. Um it really hasn't work so far so what's the diff? Out of three times it has worked one time. And that one time was the time that Tracy and CJ were with her alone and Tracy gave it to her as soon as he got it into his hands (about the 2 minute mark). I can't imagine there isn't something to that.
We also received notification that she has been approved for the BCMH for the canavan testing. Now its just a waiting game to get the letter so we can actually go get the test done. Hurry, hurry! We have been waiting since June and I really want to get this over with. Now I just have to wonder how long it is going to take to get the results back. Bet it will be a few months or longer! Ahhhh! lol
We should be hearing back from 4 paws for abilities this week or next. I am very anxious to get the approval so we can start the fund raising. The thought of having some kind of warning system in place to let us know that Lily is going to have a seizure is just like a dream come true. Ready to get moving on this.
And I am going to get Lily into dance or something. I would really like for her to take baton but I worry about the baton coming down on her head. I took baton when I was a child and you cannot avoid get thumped in the head with it a time or two (or more! lol). Maybe we will look into tap or something. Maybe I'll call her neuro and see what she thinks.
That's it for now. Thanks for reading!
We also received notification that she has been approved for the BCMH for the canavan testing. Now its just a waiting game to get the letter so we can actually go get the test done. Hurry, hurry! We have been waiting since June and I really want to get this over with. Now I just have to wonder how long it is going to take to get the results back. Bet it will be a few months or longer! Ahhhh! lol
We should be hearing back from 4 paws for abilities this week or next. I am very anxious to get the approval so we can start the fund raising. The thought of having some kind of warning system in place to let us know that Lily is going to have a seizure is just like a dream come true. Ready to get moving on this.
And I am going to get Lily into dance or something. I would really like for her to take baton but I worry about the baton coming down on her head. I took baton when I was a child and you cannot avoid get thumped in the head with it a time or two (or more! lol). Maybe we will look into tap or something. Maybe I'll call her neuro and see what she thinks.
That's it for now. Thanks for reading!
Thursday, September 2, 2010
Update
Sorry this has been so long in coming. I needed to get my head on straight and get out of my funk. Lily is home from the hospital and almost back to 100% which is just amazing considering what she went through.
At this point in time I am not going to post details of Saturday because I have to file a complaint against a Canton hospital. Once it is resolved then I will share what happened. I will however take this time to thank Akron Children's Hospital, the staff and Dr. Holler. They saved Lily's life and my sanity.
At this point in time I am not going to post details of Saturday because I have to file a complaint against a Canton hospital. Once it is resolved then I will share what happened. I will however take this time to thank Akron Children's Hospital, the staff and Dr. Holler. They saved Lily's life and my sanity.
Monday, August 30, 2010
Very quick update
Saturday night Lily had a seizure that last 3 and 1/2 hours. We are in the hospital right now. There are a bunch more details I want to share with everyone but right now I am sleepy. I will share the story later. Thanks for reading and pls keep the prayers coming!
Thursday, August 26, 2010
The radio and another "worry night"
First off I want to thank Ray Horner and 1590 am for allowing us to talk on the radio this morning about Lily and the blog. Ray was awesome, made us very relaxed and comfortable! It was really nice to discuss what was going on with Lil on the air and it was a great experience for all of us.
Now I had totally planned on making this blog about Lily and only about Lily, but my thoughts and feelings are going to take center stage right now. I am normally a very upbeat person but am not feeling very upbeat right now.
We were clothing shopping for school for the kids today. I was doing good, having a good time looking at all the pretty girlie clothes for Lily. I came across this really cute jumper set in her size that I thought would look adorable one her. Then realized that I couldn't get it for her for school. The outfit would be to complicated if she were to have a seizure at school and they needed to give her the DiaStat. And then it just hit me. You know, before her tonsils and adenoids came out I was so certain that was what was causing her seizures (lack of oxygen at night) but they are gone and have been gone since April. Then she had the seizure last week. I guess it just hit me tonight that this is just not going to go away. Not now anyway. And it's just depressing me. I know it's stupid really. There a lot worse things that could be wrong with her. I know that but right now it's not making it any easier.
Every night I am on "seizure watch" and am not getting much sleep. The sleep I do get is pretty light and unrest-full.
Today I miss how things used to be.....wish they could be that way again but I know they never will. Even if her seizures become controlled I will always be on "seizure watch".
Sorry so down, should be better tomorrow.
Thanks for reading
Now I had totally planned on making this blog about Lily and only about Lily, but my thoughts and feelings are going to take center stage right now. I am normally a very upbeat person but am not feeling very upbeat right now.
We were clothing shopping for school for the kids today. I was doing good, having a good time looking at all the pretty girlie clothes for Lily. I came across this really cute jumper set in her size that I thought would look adorable one her. Then realized that I couldn't get it for her for school. The outfit would be to complicated if she were to have a seizure at school and they needed to give her the DiaStat. And then it just hit me. You know, before her tonsils and adenoids came out I was so certain that was what was causing her seizures (lack of oxygen at night) but they are gone and have been gone since April. Then she had the seizure last week. I guess it just hit me tonight that this is just not going to go away. Not now anyway. And it's just depressing me. I know it's stupid really. There a lot worse things that could be wrong with her. I know that but right now it's not making it any easier.
Every night I am on "seizure watch" and am not getting much sleep. The sleep I do get is pretty light and unrest-full.
Today I miss how things used to be.....wish they could be that way again but I know they never will. Even if her seizures become controlled I will always be on "seizure watch".
Sorry so down, should be better tomorrow.
Thanks for reading
Tuesday, August 24, 2010
Update on Lily
Well, I think the DiaStat is out of her system now. She is back to her happy, occasionally whiny (as all 3 yr olds can be lol) self! I am very glad. I know she needs the DiaStat to stop the seizures but I can't help worry about these meds. I know they have been tested, etc but she's just so little, hardly more than a baby, really.
Guess I am just having a "worry night" as I like to call them. Oh well.
Once again thank you all for the visits, comments, support and spreading the word! You have no idea how much we appreciate it!
Guess I am just having a "worry night" as I like to call them. Oh well.
Once again thank you all for the visits, comments, support and spreading the word! You have no idea how much we appreciate it!
If you want to hear us on the radio show on Thursday you can catch it on the web at http://www.akronnewsnow.com/news/wakrnewsnow.asp
We will be on Thursday from 9:10am-9:45am eastern time zone
Monday, August 23, 2010
We are going to be on the radio!
Thursday morning 9:10am-9:45am on wakr 1590 am. Please tune in and tell your friends!
So comes the appointments and a thank you
So on the schedule for today is to make appointments for Lily. I have a whole plethora of appointments I have to make for her. School starts for me, Lily and CJ in one week, so that's going to be interesting. I already know I have one professor that is going to be understanding. I had her in the spring when Lily had lots of things going on and I missed a great deal of class. She was really great about it. I hope the others are as well. Hopefully I won't have to miss nearly as much as I did in the spring or if I do the professors will be cool about it. I really don't want to add a visit to the Dean of Grievances to my list of things to do.
I think the DiaStat is out of her system or almost out. I should probably research to see how long it takes. But she seems much happier today so I am thinking it is almost gone. We will see how the day goes. CJ has a soccer game tonight. We will see how she acts at the game. Hopefully all will be well.
I want to thank everyone for sharing Lily's blog. We have had over 250 hits! Please keep sharing with everyone you know! Your support is very much appreciated!
I think the DiaStat is out of her system or almost out. I should probably research to see how long it takes. But she seems much happier today so I am thinking it is almost gone. We will see how the day goes. CJ has a soccer game tonight. We will see how she acts at the game. Hopefully all will be well.
I want to thank everyone for sharing Lily's blog. We have had over 250 hits! Please keep sharing with everyone you know! Your support is very much appreciated!
Sunday, August 22, 2010
Now here is some info that I forgot to mention
Two things recently that happened I forgot to mention and they have me puzzled.
On August 3rd Lily was sitting on her brother CJ's lap when she decided to throw herself backwards as only a 3 yr old can (lol!) and she and CJ cracked heads. I thought poor CJ's cheek bone was broke. He was ok but they hit so hard Lily ended up with a concussion. You would think that would trigger a seizure...
Also last weekend we were at Hershey Amusement Park. Lily was around some flashing lights. After talking to the DR when she was in the hospital she told me (she being the DR) that flashing lights can cause seizures. She was going to pull up Lily's EEG to see how she reacted to the strobe during it. But I told her not to bother cuz I already knew how she reacted.
I just don't understand why these two event didn't trigger a seizure.....but then a few days later (after Hershey) she has one. I asked if it was possible for it to be delayed from the lights and she said no. The lights trigger them right away. So confused!
On August 3rd Lily was sitting on her brother CJ's lap when she decided to throw herself backwards as only a 3 yr old can (lol!) and she and CJ cracked heads. I thought poor CJ's cheek bone was broke. He was ok but they hit so hard Lily ended up with a concussion. You would think that would trigger a seizure...
Also last weekend we were at Hershey Amusement Park. Lily was around some flashing lights. After talking to the DR when she was in the hospital she told me (she being the DR) that flashing lights can cause seizures. She was going to pull up Lily's EEG to see how she reacted to the strobe during it. But I told her not to bother cuz I already knew how she reacted.
I just don't understand why these two event didn't trigger a seizure.....but then a few days later (after Hershey) she has one. I asked if it was possible for it to be delayed from the lights and she said no. The lights trigger them right away. So confused!
Saturday, August 21, 2010
Long day.......but any day without seizures is a good one
So today wasn't bad, but Lily is a bit crabby and sleep from the DiaStat. I like this much better than how she is after she has the Atavan. After the Atavan she can be weepy for days. I'll take sleepy and crabby over weepy any day! lol
We are all returning to normal much faster this time than we have in the past.....I'm really pushing for it too. I think its best for the kids (and us) if we get back to normal ASAP. And I think I am doing a pretty good job at it........
Then the sun sets and the butterflies start in my stomach. And I can't sleep or when I am able to sleep I jerk awake with every little noise. Hopefully I will be able to chill soon.
Lily is snapping back pretty quick this time though. Despite the sleepiness and the crabbiness, those aren't constant. It just comes out here and there throughout today. Those who know Lily can attest that both of those are not her norm. She is almost always happy! But I don't think it should take too terribly long for the DiaStat to come out of her system. Hopefully this increased dose of Keppra will do the trick and keep the seizures at bay this time. Only time will tell.
We are all returning to normal much faster this time than we have in the past.....I'm really pushing for it too. I think its best for the kids (and us) if we get back to normal ASAP. And I think I am doing a pretty good job at it........
Then the sun sets and the butterflies start in my stomach. And I can't sleep or when I am able to sleep I jerk awake with every little noise. Hopefully I will be able to chill soon.
Lily is snapping back pretty quick this time though. Despite the sleepiness and the crabbiness, those aren't constant. It just comes out here and there throughout today. Those who know Lily can attest that both of those are not her norm. She is almost always happy! But I don't think it should take too terribly long for the DiaStat to come out of her system. Hopefully this increased dose of Keppra will do the trick and keep the seizures at bay this time. Only time will tell.
Friday, August 20, 2010
So the story (this is gonna be long, grab a drink!)
Now this is going to be summarized because if I were to go through the whole story it would take up a huge amount of space on this blog. If you have any questions please feel free to ask away. And if you know the story and feel that I left something important out, please speak up! I gotta a whole lot of info going on and may not remember everything that needs to be out there.
Lily is a happy, outgoing, bright 3 yr old. Her first seizure was a month before she turned 3.
On Dec 14, 2009 Lily had her first seizure. It was a Status Epilipticus (this is a seizure that does not stop on its own). Her seizure lasted 45 minutes that night. She was given Atavan to stop her seizure by IV. She was admitted to the hospital that night. They did a CT scan which came back normal. She also had an waking EEG that was normal. Less than 24 hours later she was discharged and we were given a prescription for DiaStat (A med that is given rectally that is suppose to stop a seizure.).
On Jan 24, 2010 she had a second seizure. This one was very mild compared to her first one (which I will describe later in this blog post) and only last 10 minutes. She came out of this seizure on her own. She did go to the hospital that night but was not admitted.
Jump ahead to April 10, 2010. Lily suffered her 3rd and most long lasting seizure. She seized for an hour and a half. The paramedics could not get any of her veins to respond, therefore they couldn't get an IV in her, therefore they could not give her any Atavan. She was given the DiaStat by me that night and it did NOT stop her seizure. Lily was admitted to the hospital that night and we stayed there the weekend.
Now jump ahead again to August 19th (yup last night). Lily had her 4th seizure. I was not home during this seizure. It lasted about 6-7 minutes. Tracy gave Lily the DiaStat and this time it DID stop the seizure! Yay. However at the ER after she fell back asleep she was making some odd twitching motions in her sleep, so they decided to keep her over night. We are home now and she is doing very well.
Other details (and this is where it gets long!). Lily had a dose of the H1N1 flu mist vaccine on Nov 23, 2009. She developed a stuffed up nose the next day, which lasted 5 (yes you read that right) 5 months. She had her stuffed up nose, repeated ear and sinus infections from Dec to April 12. April 12 (yes 2 days after the BIG seizure) she had her tonsils and adenoids out and had tubes in her ears. The ENT doing her surgery said her adenoids were so large they were completely obstructing her airway and that her tonsils were a plus 3 (plus 4 are the biggest you can have). Since having the T and A and tubes, she has not had one infection. But since her adenoids were obstructing her so badly that means the flu mist was most likely trapped in her head for 5 months. Am I saying that is what cause her seizures? Nope, but it's something that I think should be taken into consideration. She had a second dose of H1N1 flu mist 10 days before her second seizure.....
So in Jan she had both a EEG and a sleep study done (not at the same time). The EEG was abnormal, showing that Lily's brain was misfiring every 15-20 seconds when she was awake and every 10-15 seconds when she was asleep. This is when she was diagnosed with Epilepsy. She was put on Keppra and a MRI ws ordered. The sleep study showed that she had both obstructed (adenoids) sleep apnea (when a person stops breathing in their sleep) and centralized (caused by the brain) sleep apnea.
So the MRI was also abnormal. It showed that Lily had bilateral signals arising from her Basal Ganglia. I can't really explain what that means as I am not quite clear on it myself but I do that it is not normal.
Lily also had an abnormal urine test. She had something show up in her urine that she not have been there. Most commonly this is linked to a very rare genetic disease called Canavan. This result does not make any sense as she has NO signs of the disease besides the abnormal MRI and the urine test.
I contact a Dr in New Jersey who has done a HUGE amount of work with Canavan patients. I explained what was going on with Lily and this is part of her reply:
"
Lily is a happy, outgoing, bright 3 yr old. Her first seizure was a month before she turned 3.
On Dec 14, 2009 Lily had her first seizure. It was a Status Epilipticus (this is a seizure that does not stop on its own). Her seizure lasted 45 minutes that night. She was given Atavan to stop her seizure by IV. She was admitted to the hospital that night. They did a CT scan which came back normal. She also had an waking EEG that was normal. Less than 24 hours later she was discharged and we were given a prescription for DiaStat (A med that is given rectally that is suppose to stop a seizure.).
On Jan 24, 2010 she had a second seizure. This one was very mild compared to her first one (which I will describe later in this blog post) and only last 10 minutes. She came out of this seizure on her own. She did go to the hospital that night but was not admitted.
Jump ahead to April 10, 2010. Lily suffered her 3rd and most long lasting seizure. She seized for an hour and a half. The paramedics could not get any of her veins to respond, therefore they couldn't get an IV in her, therefore they could not give her any Atavan. She was given the DiaStat by me that night and it did NOT stop her seizure. Lily was admitted to the hospital that night and we stayed there the weekend.
Now jump ahead again to August 19th (yup last night). Lily had her 4th seizure. I was not home during this seizure. It lasted about 6-7 minutes. Tracy gave Lily the DiaStat and this time it DID stop the seizure! Yay. However at the ER after she fell back asleep she was making some odd twitching motions in her sleep, so they decided to keep her over night. We are home now and she is doing very well.
Other details (and this is where it gets long!). Lily had a dose of the H1N1 flu mist vaccine on Nov 23, 2009. She developed a stuffed up nose the next day, which lasted 5 (yes you read that right) 5 months. She had her stuffed up nose, repeated ear and sinus infections from Dec to April 12. April 12 (yes 2 days after the BIG seizure) she had her tonsils and adenoids out and had tubes in her ears. The ENT doing her surgery said her adenoids were so large they were completely obstructing her airway and that her tonsils were a plus 3 (plus 4 are the biggest you can have). Since having the T and A and tubes, she has not had one infection. But since her adenoids were obstructing her so badly that means the flu mist was most likely trapped in her head for 5 months. Am I saying that is what cause her seizures? Nope, but it's something that I think should be taken into consideration. She had a second dose of H1N1 flu mist 10 days before her second seizure.....
So in Jan she had both a EEG and a sleep study done (not at the same time). The EEG was abnormal, showing that Lily's brain was misfiring every 15-20 seconds when she was awake and every 10-15 seconds when she was asleep. This is when she was diagnosed with Epilepsy. She was put on Keppra and a MRI ws ordered. The sleep study showed that she had both obstructed (adenoids) sleep apnea (when a person stops breathing in their sleep) and centralized (caused by the brain) sleep apnea.
So the MRI was also abnormal. It showed that Lily had bilateral signals arising from her Basal Ganglia. I can't really explain what that means as I am not quite clear on it myself but I do that it is not normal.
Lily also had an abnormal urine test. She had something show up in her urine that she not have been there. Most commonly this is linked to a very rare genetic disease called Canavan. This result does not make any sense as she has NO signs of the disease besides the abnormal MRI and the urine test.
I contact a Dr in New Jersey who has done a HUGE amount of work with Canavan patients. I explained what was going on with Lily and this is part of her reply:
"
Dear Ms. Secrest,
I doubt your daughter has Canavan Disease because NAA in urine is very low as compared to typically and atypically affected Canavan patients which we diagnosed in the past. A slight elevation in urine NAA has been reported in patients affected by other leukodystrophies. Bilateral T1 & T2 abnormalities in MRI signal is commonly reported in mild as well as severe developmental disorders."
Her Dr's at Akron Children Hosp see no other reason for her to have this type of urine test besides Mild Canavan. So we will be getting her tested for the canavan within the next couple weeks. If you are wondering why it has taken so long for us to get the test it is because the insurance company denied the test and we have had to jump through some hoops, etc to get approval for this testing. Please keep your eyes on the blog for further updates on the testing and results.
Now her is a run down on her seizures (not the description, that's next and you'll get a warning first). All of the seizures have been an hour to an hour and a half after she falls asleep for the night. 3 out of the 4 was when she was having a great deal of trouble breathing in her sleep. With ALL of them she has had a croupy like cough days before the seizure.
Ok now the description of her seizures...........
They always start with her vomiting. Then she hyperventilates, her eye rolls and she goes limp, but her eyes remain open. The hyperventilating is really scary because you are not sure if she is getting enough oxygen or not, but she has never turned blue. She has had some slight trembling of her limbs but not that often. The 2nd seizure she vomited but didn't hyperventilate and she was not completely out of it like the other two. The 4th one I cannot say because I was not home when she had it. When I got home about 10 mins later she was no longer seizing.
If you have made it to the end of this blog post, thank you!! Please pass this blog on to everyone you know! Prayers, candles lit, good vibes ect are very much appreciated!
Reason for this blog
There are a few different purposes for this blog. First and most important to me is that maybe, just maybe someone somewhere will read this blog and say 'Hey, that happened to someone I know and here is what we did" or at least people who are in the same spot that we are in.
The second reason is to educate people on seizures and epilepsy. It's a scary thing but not as scary as you think.
And third to offer support for people who are going though the "well, we don't know what's wrong with your child and we don't really know what we can do to stop it." I am NOT in any way shape or form bashing the medical community with this statement. I would PREFER that they were honest with us and say we don't know then trying to pull guesses out the booty. But it is a TREMENDOUSLY difficult thing to go through.
I beg you to please pass this blog on to everyone you know! The more people this blog reaches the better chance we have for getting some answers.
Thank you for reading!
The second reason is to educate people on seizures and epilepsy. It's a scary thing but not as scary as you think.
And third to offer support for people who are going though the "well, we don't know what's wrong with your child and we don't really know what we can do to stop it." I am NOT in any way shape or form bashing the medical community with this statement. I would PREFER that they were honest with us and say we don't know then trying to pull guesses out the booty. But it is a TREMENDOUSLY difficult thing to go through.
I beg you to please pass this blog on to everyone you know! The more people this blog reaches the better chance we have for getting some answers.
Thank you for reading!
Subscribe to:
Posts (Atom)