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!!
Subscribe to:
Posts (Atom)