We have recently received the official diagnosis of Aicardi Syndrome. We have suspected this for a couple months so it came as no surprise. We joined the Aicardi website and forum for families and plan on supporting the foundation. They provide a yearly conference for families to meet and learn more about Aicardi. They provide hotel rooms and food for all families who attend the conference. The donations they receive provide the funds to do so. Many families would not be able to attend without this assistance.
With that being said, we would like to help raise money for the foundation and for Piper. Justin and I, her grandparents and friends will be running the Knoxville Covenant Health half marathon for team Piper. The race is on April 1, which ironically is the same day we were told there was an abnormality in her brain last year. It will be an emotional day for us. We want to raise awareness for Aicardi syndrome because it is so rare, with only 800 reported cases in the U.S. We would like to donate half of the money to the foundation so they can continue to unite and provide support for families. The other half will go to medical expenses for Piper. As Justin likes to say, we are putting many doctors' children through college.
If you are already running and would like to purchase a Team Piper tee shirt let me know. We are so blessed to have such supportive friends and family! We can't wait to see you in Knoxville. Look for me, I will be the one crawling over the finish line.
For donations click below
Friday, March 9, 2012
Thursday, March 1, 2012
Big announcement!
No, I'm not pregnant again..haha!
Justin got a promotion!!!! We are very excited for him and his new responsibilities and opportunities with his job. He will be traveling more so we feel it would make sense for us to......I never thought I would say this.....move back to Knoxville! He was gone for a long trip and realized it added a lot of stress worrying about what I would do if there was an emergency. It just makes sense for us to be close to family. We will miss our friends that we have made here very much. Our church family has been such a huge support system and we are so thankful God put us here and provided us with an amazing church.
We are putting the house on the market in the next month so we are busy doing home improvement projects. Since we are not sure what the future holds for Piper we are considering building a house in Knoxville that is wheelchair accessible. We will know more as she gets older and we can see if she has the potential to walk. It's just a thought right now. We will have to save up some money before we are able to do this. The good thing is we are on no schedule at all so we will just see what happens with this house first.
As far as doctors go, we don't have a problem switching. So all you Knoxville people...I will need recommendations on a pediatrician, pediatric neurologist, Opthamologist, Pt/Ot etc. Since we are only going to Emory once a month we feel it won't be a big deal to drive another hour.
Piper is doing a lot better on her new medicine. Her spasms have decreased, she still having episodes but they are not as intense. She is still very sleepy during the day but she is more active than before when she is awake. We are working on helping her get stronger, she is still having trouble holding her head up. Her torso is very strong and she kicks her legs all the time so that is great. She is "talking" more and looking around. She is still not smiling which is disappointing because we thought once the seizures decreased her smile would come back. Overall, we have seen huge improvements and are so thankful. The prayers are working!
Monday, February 20, 2012
The new medicine
Piper started vigabatrin on Wednesday. It has decreased the number and severity of her spasms which is awesome. She did have more yesterday but we hope as the dosage increases they will continue to decrease. We don't expect for the spasms to go away completely but a decrease is great. We pray it continues to work.
The medicine makes her extremely sleepy, she slept almost 19 hours the first day. It worried me a little because I have never seen anything sleep like that. The only way I could get her to wake up and eat was to rub an ice cube on her belly or put her in a cold bath. (mean old mommy)The doctor decreased her dose and we are going to gradually work our way up so her body can get used to it slowly. It was great to see her catch up on all the sleep she has missed in the past three months. Justin said, "imagine how you would feel if you didn't sleep well for three months." He quickly withdrew that statement after the look on my face. Of course my retort was "try six months." hahaha! We are actually able to put her down for a nap, this is so foreign to us we just sit there and watch her because we aren't used to putting her down at all! It makes me so happy to watch her sleeping peacefully and uninterrupted.
Her muscle tone seems to be increasing and she is getting stronger. She has become extremely squirmy and is constantly kicking and what I call "windmilling" her arms around. We have both received several blows to the face with these little arms. She moves her head around constantly but is still very wobbly. She is pretty irritable and angry right now but we take advantage of that and put her on her belly. She will try her best to lift her head and scream at us! She seems to be stronger every day.
We haven't seen any smiles or laughs yet. I was hoping I could get a picture of her smiling for her 6 month picture yesterday but she is just not ready yet. I'll keep waiting. She is still not making a lot of eye contact or responding to us. She will listen to our voices if we catch her in the right mood. We are still not sure how well she can see. We do know that her ERG was normal for her age but it really just tests light detection. We have also done a lot of research on vigabatrin and how to protect her eyes. They research we found says to keep her in dim light most of the time and away from bright lights. Since it will be warm soon and we love being outdoors I bought her some Julbo infant protective sunglasses. She may be wearing these all the time.
As far as everything else goes, there may be some other changes in the near future. Justin's job may include new opportunities and responsibilities which may lead us out of Chattanooga.
We have started doing home improvement projects around the house to get it ready to put on the market.It has made me feel like myself for the first time in months. Those of you that know me well, nothing makes me happier than a house project. I'm the weirdo that is elated over a can of paint, a room to organize and something to fix. Now that Piper is taking naps I can actually get things done. I even watched Hoarders for a couple hours the other day for inspiration. Nothing motivates me more than the thought of living like that!
The medicine makes her extremely sleepy, she slept almost 19 hours the first day. It worried me a little because I have never seen anything sleep like that. The only way I could get her to wake up and eat was to rub an ice cube on her belly or put her in a cold bath. (mean old mommy)The doctor decreased her dose and we are going to gradually work our way up so her body can get used to it slowly. It was great to see her catch up on all the sleep she has missed in the past three months. Justin said, "imagine how you would feel if you didn't sleep well for three months." He quickly withdrew that statement after the look on my face. Of course my retort was "try six months." hahaha! We are actually able to put her down for a nap, this is so foreign to us we just sit there and watch her because we aren't used to putting her down at all! It makes me so happy to watch her sleeping peacefully and uninterrupted.
Her muscle tone seems to be increasing and she is getting stronger. She has become extremely squirmy and is constantly kicking and what I call "windmilling" her arms around. We have both received several blows to the face with these little arms. She moves her head around constantly but is still very wobbly. She is pretty irritable and angry right now but we take advantage of that and put her on her belly. She will try her best to lift her head and scream at us! She seems to be stronger every day.
We haven't seen any smiles or laughs yet. I was hoping I could get a picture of her smiling for her 6 month picture yesterday but she is just not ready yet. I'll keep waiting. She is still not making a lot of eye contact or responding to us. She will listen to our voices if we catch her in the right mood. We are still not sure how well she can see. We do know that her ERG was normal for her age but it really just tests light detection. We have also done a lot of research on vigabatrin and how to protect her eyes. They research we found says to keep her in dim light most of the time and away from bright lights. Since it will be warm soon and we love being outdoors I bought her some Julbo infant protective sunglasses. She may be wearing these all the time.
As far as everything else goes, there may be some other changes in the near future. Justin's job may include new opportunities and responsibilities which may lead us out of Chattanooga.
We have started doing home improvement projects around the house to get it ready to put on the market.It has made me feel like myself for the first time in months. Those of you that know me well, nothing makes me happier than a house project. I'm the weirdo that is elated over a can of paint, a room to organize and something to fix. Now that Piper is taking naps I can actually get things done. I even watched Hoarders for a couple hours the other day for inspiration. Nothing motivates me more than the thought of living like that!
Tuesday, February 14, 2012
Vigabatrin....prayers please!
I just got the phone call that Piper's first supply of her new medicine vigabatrin will be here tomorrow. Tomorrow will be exactly 3 months to the day since her first seizure. We need this medicine to make some significant changes but we are so nervous about this medication because the side effects are so scary. We had a follow up with the Opthamologist here in Chattanooga and he gave me a lecture about the risks. He also told me he has a patient who has permanent central vision loss from taking the drug. I have talked to other parents whose daughters have experienced vision loss as well. There are also many other children who have not had any problems so far. The scary part is it has the potential to have side effects 6 months after she stops taking it. So if they do notice damage and she stops taking the drug it will take 6 months to be in the clear. Just the thought of me giving her a pill that could make her go blind is beyond terrifying. It honestly makes me sick to my stomach.
We know that vision loss is a lot less severe compared to the amount of seizures she is having. She is continuing to have increasing amounts in the past week. She is up to the 350-400 mark. Last night we had a particularly bad night. She wasn't able to fall asleep until 4am because she just had cluster after cluster all night. She had 250 in a 6 hour period when she normally has around 40.It was one of her worst nights so far. In a weird way it was a good thing because I felt so helpless and frustrated I would have done anything to help her (like give her vigabatrin). I guess God is giving me a sign.
So, for all of you who want to help us, now is the time. We need prayers!! More specifically..
-pray for our peace while we give our daughter the new medicine.
-pray the medicine works with no side effects.
-pray she can get out of the fog and sadness and enjoy things again.
-Justin is in New Hampshire this week so pray for safe travels and that he can rest a little.
Thank you!
We know that vision loss is a lot less severe compared to the amount of seizures she is having. She is continuing to have increasing amounts in the past week. She is up to the 350-400 mark. Last night we had a particularly bad night. She wasn't able to fall asleep until 4am because she just had cluster after cluster all night. She had 250 in a 6 hour period when she normally has around 40.It was one of her worst nights so far. In a weird way it was a good thing because I felt so helpless and frustrated I would have done anything to help her (like give her vigabatrin). I guess God is giving me a sign.
So, for all of you who want to help us, now is the time. We need prayers!! More specifically..
-pray for our peace while we give our daughter the new medicine.
-pray the medicine works with no side effects.
-pray she can get out of the fog and sadness and enjoy things again.
-Justin is in New Hampshire this week so pray for safe travels and that he can rest a little.
Thank you!
Thursday, February 9, 2012
Playing the waiting game
Not much has changed around the Koozer household. Piper is still having around 300 seizures a day. We were weaning her off of one medication but started to see an increase in seizures so now she is on a low dose of this medicine until we can get started on the vigabatrin. On the lower dose of topamax we have seen a small increase in muscle tone and strength. She is turning her head to the left side again (she stopped doing this when she started the med) and using her left side a little more. We still have a lot of work to do to get her neck strong enough to hold her head up. Her smile has not returned but we keep patiently waiting. Sometimes she smiles when she is having seizures so at least we know she still can but just doesn't want to.She does not recognize faces and we have accepted that she may never do so again but still pray it's just a side effect. I do think she recognizes Justin and my voice which makes us happy. She has been doing better during tummy time ,mostly because she is angry and lifts her head to scream at me. I guess whatever works is good. :)
**on a side note, i hate the drug topamax and would recommend trying other things first if you or someone you know is in this situation. It has crappy side effects and horrible withdrawal symptoms when you stop using it. It is sometimes prescribed for migraines so be careful.
The new drug is vigabatrin and is called the "wonder drug" in the Aicardi community. I don't really want to think of it that way because I really don't want to get my hopes up. It is a long process to be approved for the drug because it can cause permanent vision loss. Our recent visit to Emory for the ERG is the first step in the process. It takes 10 days for the test results and our doctor can process the request. It has been 6 days since the test. We may not start the new meds until March. Playing the waiting game is the hardest part right now. I want to fast forward to March but at the same time I want time to freeze so she can have a chance to catch up if that's even possible. Having patience is extremely hard, especially when you watch your baby struggle every day.
I decided to finally get on the Aicardi website and read stories of other girls ( I have put this off for a long time). It was something that needs to be done although it was not that encouraging. Most of the stories are very sad. Most of the girls are not able to walk, non verbal and have many health problems. There are a few that function well physically but have extreme cognitive difficulties. These girls are on the mild end of the spectrum and do not have as many seizures as Piper does.Every child is different so we don't know what the future holds, but we do know that unless we get her seizures under control her prognosis will not be so hopeful. Please pray with us that the new medicine will help her.
I joined the discussion forum to be able to have support from other families.
It will be good to talk to people who have gone through or are going through the same situation. They have a family conference in July in St. Louis that helps families learn and support each other. We are going to try and save up "vacation" money to go to the conference.This is the website if anyone is interested in reading more
http://www.aicardisyndrome.org/site/node/13
Thank you so much for our friends and family that read the blog and continue to stay updated and praying for us. It makes it so much easier when people already know what is going on so we don't have so many questions to answer. It helps us have a little more normalcy in our lives, which is so important to us.
**on a side note, i hate the drug topamax and would recommend trying other things first if you or someone you know is in this situation. It has crappy side effects and horrible withdrawal symptoms when you stop using it. It is sometimes prescribed for migraines so be careful.
The new drug is vigabatrin and is called the "wonder drug" in the Aicardi community. I don't really want to think of it that way because I really don't want to get my hopes up. It is a long process to be approved for the drug because it can cause permanent vision loss. Our recent visit to Emory for the ERG is the first step in the process. It takes 10 days for the test results and our doctor can process the request. It has been 6 days since the test. We may not start the new meds until March. Playing the waiting game is the hardest part right now. I want to fast forward to March but at the same time I want time to freeze so she can have a chance to catch up if that's even possible. Having patience is extremely hard, especially when you watch your baby struggle every day.
I decided to finally get on the Aicardi website and read stories of other girls ( I have put this off for a long time). It was something that needs to be done although it was not that encouraging. Most of the stories are very sad. Most of the girls are not able to walk, non verbal and have many health problems. There are a few that function well physically but have extreme cognitive difficulties. These girls are on the mild end of the spectrum and do not have as many seizures as Piper does.Every child is different so we don't know what the future holds, but we do know that unless we get her seizures under control her prognosis will not be so hopeful. Please pray with us that the new medicine will help her.
I joined the discussion forum to be able to have support from other families.
It will be good to talk to people who have gone through or are going through the same situation. They have a family conference in July in St. Louis that helps families learn and support each other. We are going to try and save up "vacation" money to go to the conference.This is the website if anyone is interested in reading more
http://www.aicardisyndrome.org/site/node/13
Thank you so much for our friends and family that read the blog and continue to stay updated and praying for us. It makes it so much easier when people already know what is going on so we don't have so many questions to answer. It helps us have a little more normalcy in our lives, which is so important to us.
Tuesday, January 24, 2012
No changes yet...
Well, we are not making a lot of progress right now. We went to Emory last week and they adjusted her diet so that her blood sugar doesn't drop throughout the day. They are worried about the possibility of acidosis which one of her meds can make worse. We are weaning her off of this medicine for that reason and also because it has really bad side effects. We have already seen so many side effects and not sure if it's from the two meds or the huge number of spasms she is still having... Probably a combination of all.
We noticed immediately after we started weaning the medicine that she was having extreme withdrawal symptoms. She is very irritable, lethargic and not active at all. She slept 16.5 hours the first day on a lower dose. She has stopped smiling and playing. The diet has such a small amount of carbs that she doesn't have much energy to begin with and when she has seizures it takes all she has. The goal of taking her off this medicine is to see more energy, muscle tone and hopefully she can learn how to hold her head up again. So far she is much more alert but also more aware of her seizures. When she has them she screams during every one. So yes, we are talking about 250+ blood curdling screams a day. Yesterday she had a better day.. Still 250 spasms but she smiled once and its been weeks since she has smiled at me. It's the little things that are so important right now.
Our next step is to have an ERG.
An Electroretinography (ERG) is an eye test in which electrodes are placed on the cornea to measure electrical responses to light in an effort to detect abnormal retinal function. We are deciding if trying another medicine is the next step. Many children with Aicardi have seen drastic reduction in the number of spasms on this medicine. The drug can cause permanent vision loss and is pretty scary to try but we have no other choices right now. Unfortunately, vision loss trumps brain damage from seizures, but they both are pretty much equally crappy to me. To even begin this medicine she has to have a baseline ERG done and have it repeated every three months to make sure her vision isn't affected. Luckily Emory offers this service because it's not a routine procedure. We go on February 3 to have this done.
We have started working with the Tennessee early intervention program because of her developmental delays. We will have an evaluator come out next week to determine what she needs. They will work out a program and someone will come out every week and work with her and show me what to do.
Justin is in Canada for 6 days at his yearly company meeting.He is having a good time so far. It's freezing cold and covered in snow. He will be back on Saturday so pray for a safe trip home!
While he has been gone I have really been able to spend my time loving on this sweet little girl and learning how to adapt to her needs. Since she is so angry most of the time we do a lot of relaxing activities. We have always played music so I'm continuing to do so but I've found out she likes hearing us read to her. I tried reading some kids books but she would cry when they were over so I thought I would try something longer. I pulled out the Harry potter series and read for hours. I kept saying I wanted to read them again, here is my chance! She just looks and listens which makes me happy.
Every day is a challenge. We continue to pray and take it a day at a time.
We noticed immediately after we started weaning the medicine that she was having extreme withdrawal symptoms. She is very irritable, lethargic and not active at all. She slept 16.5 hours the first day on a lower dose. She has stopped smiling and playing. The diet has such a small amount of carbs that she doesn't have much energy to begin with and when she has seizures it takes all she has. The goal of taking her off this medicine is to see more energy, muscle tone and hopefully she can learn how to hold her head up again. So far she is much more alert but also more aware of her seizures. When she has them she screams during every one. So yes, we are talking about 250+ blood curdling screams a day. Yesterday she had a better day.. Still 250 spasms but she smiled once and its been weeks since she has smiled at me. It's the little things that are so important right now.
Our next step is to have an ERG.
An Electroretinography (ERG) is an eye test in which electrodes are placed on the cornea to measure electrical responses to light in an effort to detect abnormal retinal function. We are deciding if trying another medicine is the next step. Many children with Aicardi have seen drastic reduction in the number of spasms on this medicine. The drug can cause permanent vision loss and is pretty scary to try but we have no other choices right now. Unfortunately, vision loss trumps brain damage from seizures, but they both are pretty much equally crappy to me. To even begin this medicine she has to have a baseline ERG done and have it repeated every three months to make sure her vision isn't affected. Luckily Emory offers this service because it's not a routine procedure. We go on February 3 to have this done.
We have started working with the Tennessee early intervention program because of her developmental delays. We will have an evaluator come out next week to determine what she needs. They will work out a program and someone will come out every week and work with her and show me what to do.
Justin is in Canada for 6 days at his yearly company meeting.He is having a good time so far. It's freezing cold and covered in snow. He will be back on Saturday so pray for a safe trip home!
While he has been gone I have really been able to spend my time loving on this sweet little girl and learning how to adapt to her needs. Since she is so angry most of the time we do a lot of relaxing activities. We have always played music so I'm continuing to do so but I've found out she likes hearing us read to her. I tried reading some kids books but she would cry when they were over so I thought I would try something longer. I pulled out the Harry potter series and read for hours. I kept saying I wanted to read them again, here is my chance! She just looks and listens which makes me happy.
Every day is a challenge. We continue to pray and take it a day at a time.
Tuesday, January 17, 2012
Day 17 of the diet
Piper has been on the diet for 17 days and we have not seen any significant progress. We have been praying that this diet would start working because she is now averaging 200-300 seizures a day. This is affecting her mood, development and personality even more than before. We are truly at a place where we feel hopeless.
This weekend we went out of town for Justin's boss's 40th birthday. We had a good time but it was extremely stressful because piper basically cried and screamed for hours at a time the whole weekend. We had to call the neurologist and he told us to measure her blood sugar. We had to stop at cvs on the way home from sc to buy a monitor and prick her to check her levels. She was borderline low blood sugar but by the time we got home she had low blood sugar. The doctor said all we can do is give her one ounce of pedialite. The problem is pedialite has dextrose which is a big no- no for the diet because it can make her body come out of ketosis which may cause an increase in seizures.We just have to deal with hours of screaming she does most of the day. We are going to Emory tomorrow so they can do more testing.
The past two weeks have been really rough for us. I was approached by someone I don't know who had heard our story. They were trying to be nice by telling me they were proud of me for not having an abortion because most people who find out their child is "retarded" would not keep the baby. Let me just say my response wasn't very nice. For the first time I was bombarded by the inevitable, ignorance. I tried to explain more about the situation but it was pointless. We know Piper is different and will have challenges but I just wasn't ready to hear such hurtful words. Unfortunately, this is only the beginning of hearing rude things that will be said about her throughout her life.
Our pediatrician referred us to a case worker in the early intervention program because of how much she has regressed developmentally. They are coming by on Friday to do an evaluation and form a plan for her. The problem is if the seizures continue she will be unable to learn new things. Right now she is so tired that she only has play time for a few minutes a day.
We spend most of our time at home. I was trying to get out and take her places but she is so unhappy and having so many seizures that the stress is just not worth it. As you can probably tell we are at the end of our rope. The bitterness and anger is setting in and I have tried for 2 months to resist these feelings. Things are just not getting better. Justin and I have trouble getting excited or hopeful about anything. This is such a hard situation and gets harder every day.
This weekend we went out of town for Justin's boss's 40th birthday. We had a good time but it was extremely stressful because piper basically cried and screamed for hours at a time the whole weekend. We had to call the neurologist and he told us to measure her blood sugar. We had to stop at cvs on the way home from sc to buy a monitor and prick her to check her levels. She was borderline low blood sugar but by the time we got home she had low blood sugar. The doctor said all we can do is give her one ounce of pedialite. The problem is pedialite has dextrose which is a big no- no for the diet because it can make her body come out of ketosis which may cause an increase in seizures.We just have to deal with hours of screaming she does most of the day. We are going to Emory tomorrow so they can do more testing.
The past two weeks have been really rough for us. I was approached by someone I don't know who had heard our story. They were trying to be nice by telling me they were proud of me for not having an abortion because most people who find out their child is "retarded" would not keep the baby. Let me just say my response wasn't very nice. For the first time I was bombarded by the inevitable, ignorance. I tried to explain more about the situation but it was pointless. We know Piper is different and will have challenges but I just wasn't ready to hear such hurtful words. Unfortunately, this is only the beginning of hearing rude things that will be said about her throughout her life.
Our pediatrician referred us to a case worker in the early intervention program because of how much she has regressed developmentally. They are coming by on Friday to do an evaluation and form a plan for her. The problem is if the seizures continue she will be unable to learn new things. Right now she is so tired that she only has play time for a few minutes a day.
We spend most of our time at home. I was trying to get out and take her places but she is so unhappy and having so many seizures that the stress is just not worth it. As you can probably tell we are at the end of our rope. The bitterness and anger is setting in and I have tried for 2 months to resist these feelings. Things are just not getting better. Justin and I have trouble getting excited or hopeful about anything. This is such a hard situation and gets harder every day.
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