Michael and I are at a loss. Over the last few weeks we have noticed Bug's seizure activity changing. At first it was just like her partial onset seizures at night were going away and were being replaced with 1-3 atonic head drop seizures. Her upper body would just kind of collapse for a split second and then she would pop right back up. This is different from the myclonic spasms she was having a year ago where her arms would spread out wide and she would quickly bend down so we (her neuro, Michael and I) do not think it is epileptic spasms again which is good because those are so difficult to control.
When the atonic head drops started we weren't too super concerned because were confidant that raising the strength of her VNS pulses and changing the duty cycle, discussed in the previous post, would zap away those last few drop seizures. Well, changing the cycle has seemed to completely control the partial onset seizures (fingers crossed!) but now the atonic head drops are increasing and coming in clusters.
I've been keeping all of the notes in Bug's seizure journal as usual and I just don't know what to make of it. We started a medicine a few weeks ago to control excessive drool but the neuro doesn't think that would attribute to the increase of drops.
I had a sickening feeling that he is going to want an EEG soon and Rayleigh just does NOT do well with the sleep deprivation involved with an EEG and doesn't always nap once we get there for the appointment. But if it is necessary then we will do it!
We see the neuro this week and I am really hoping that he believes we can tweak the settings on the VNS and get these drops under better control. After a cluster of 3-5 drops within a 3 minute period Bug gets fussy. She sounds uncomfortable, not scared or hurt, but as a mom you still want to "fix" whatever is ailing your child.
I really hope we can fix this issue before it gets any worse. She is my angel, my world.
--------------------------
Current meds:
Onfi 10mg, 1 pill, 3 times a day
Vimpat 50mg, 1/2 pill morning, 1 pill night
Banzel, 2ml twice a day
Kuspova (drool med), 2.5ml twice a day
VNS set at 1.25 out of 2 strength, on for 30 seconds every 3 minutes
Bug in Air
Showing posts with label 2 year old. Show all posts
Showing posts with label 2 year old. Show all posts
Sunday, March 10, 2013
Tuesday, January 22, 2013
Our Experience with Banzel
Maybe you're thinking that the title of this should be "Bug's Experience..." but let me tell you, any time we make a change for Bug, we all go through it! You'll see what I mean in this little story.
Banzel is a medication designed to control seizures in combination with other medicines. Rayleigh Bug started taking Banzel on November 13th. We began with 1ml twice a day for one week, then 2ml twice a day for one week and then reached her goal dose of 3ml twice a day. She is also taking Clobozam/Onfi and Vimpat for seizure control.
Not long after she had been on the full dose did we start noticing mood changes. I mean, she hadn't been her happy, bubbly self since Lamictal months ago, which she stopped taking at the beginning of November - but this change was awful. I don't mean to be the gray rain cloud over all this but it was bad! She literally woke up cranky making whiny noises, irritable, kicking, uncomfortable, flailing, and such.
So we figured, "Ok, this is probably just her system adjusting to the new dose of Banzel. It will wear off as her body gets used to it. I hope."
2 weeks passed and we couldn't stand it any longer. Our little girl was not happy. BUT she had the best seizure control she had obtained in months! Before Banzel she was having 2-4 tonic seizures a day. A tonic seizure being where she would tense and curl her limbs in with good breathing or sometimes labored breathing and her eyes would look off, no shaking or jerks. Each tonic seizure lasted about 60-70 seconds.
With the full dose of Banzel in her system, Bug was only having a few tonic seizures a week and had started having absent seizures. An absent seizure for Rayleigh involves her looking off, usually to her left, for 1-2 seconds and then coming right back to. She was having about 2-3 of these new seizures a day after Banzel.
I contacted Bug's neuro and gave him our list of pros and cons and he explained that everything I was describing were side effects of Banzel. He prescribed us to lower the dose of Banzel from 3ml to 2ml twice a day and wait a few weeks for changes to be seen.
So we waited.
And we waited.
And we kept waiting.
I am very very very happy to report that her mood has MUCH IMPROVED these last couple of weeks! She's laughing, giggling, making eye contact, waking up and snuggling instead of kicking and she is just happy!
We're still not sure if it was the Banzel finally adjusting in her system with the smaller dose or if the VNS being activated had something to do with it but we are so grateful that she is feeling better!
So anyway, my advice to parents considering Banzel: The first few months are tough so make a glass of wine and let it pass and do whatever makes them happy (for Rayleigh during those first months we would drive around, the motion would momentarily calm her) and if you see seizure control then try and stick with Banzel and the irritability should wear off, eventually ;)
Banzel is a medication designed to control seizures in combination with other medicines. Rayleigh Bug started taking Banzel on November 13th. We began with 1ml twice a day for one week, then 2ml twice a day for one week and then reached her goal dose of 3ml twice a day. She is also taking Clobozam/Onfi and Vimpat for seizure control.
Not long after she had been on the full dose did we start noticing mood changes. I mean, she hadn't been her happy, bubbly self since Lamictal months ago, which she stopped taking at the beginning of November - but this change was awful. I don't mean to be the gray rain cloud over all this but it was bad! She literally woke up cranky making whiny noises, irritable, kicking, uncomfortable, flailing, and such.
So we figured, "Ok, this is probably just her system adjusting to the new dose of Banzel. It will wear off as her body gets used to it. I hope."
2 weeks passed and we couldn't stand it any longer. Our little girl was not happy. BUT she had the best seizure control she had obtained in months! Before Banzel she was having 2-4 tonic seizures a day. A tonic seizure being where she would tense and curl her limbs in with good breathing or sometimes labored breathing and her eyes would look off, no shaking or jerks. Each tonic seizure lasted about 60-70 seconds.
With the full dose of Banzel in her system, Bug was only having a few tonic seizures a week and had started having absent seizures. An absent seizure for Rayleigh involves her looking off, usually to her left, for 1-2 seconds and then coming right back to. She was having about 2-3 of these new seizures a day after Banzel.
I contacted Bug's neuro and gave him our list of pros and cons and he explained that everything I was describing were side effects of Banzel. He prescribed us to lower the dose of Banzel from 3ml to 2ml twice a day and wait a few weeks for changes to be seen.
So we waited.
And we waited.
And we kept waiting.
I am very very very happy to report that her mood has MUCH IMPROVED these last couple of weeks! She's laughing, giggling, making eye contact, waking up and snuggling instead of kicking and she is just happy!
We're still not sure if it was the Banzel finally adjusting in her system with the smaller dose or if the VNS being activated had something to do with it but we are so grateful that she is feeling better!
So anyway, my advice to parents considering Banzel: The first few months are tough so make a glass of wine and let it pass and do whatever makes them happy (for Rayleigh during those first months we would drive around, the motion would momentarily calm her) and if you see seizure control then try and stick with Banzel and the irritability should wear off, eventually ;)
Tuesday, January 1, 2013
Rayleigh's Year in Numbers
I thought it might be a neat idea to gather some numbers from Bug's year to wrap up 2012. I keep everything down in my calendar and keep a seizure journal that includes every seizure, bad day, sick day, medicine change, etc. So as I'm going back through these books there are some sad moments. I'm realizing that while most moms are driving their children to a park, I am driving Rayleigh to physical therapy. Or while other moms drive their kids to a playdate, I am driving Rayleigh to a doctor appointment. But I will keep on keeping on because all of those things are to help my sweet Bug! And that is exactly what we'll spend 2013 doing, and every year after this!
So, here are some figures from 2012.
So there you have it, our year in a nutshell. Looks crazy all down in numbers and puts it all in perspective to me - gosh, it was an exhausting but fun year and there's another one ahead of us now!
So, here are some figures from 2012.
- 8 Neurologist visits
- 2 Epileptologist visits
- 7 Pedatrician visits
- 2 Neuro-opthomologist visits (eye surgeon/doctor that also specializes in the brain)
- 2 Hearing tests - passed both!
- 4 Trips to the ER :(
- 2 EEGs
- 1 ERG (eye test done with probs on eyeballs while sedated)
- 44 Physical Therapies at Jim Thorpe
- 35 Occupational Therapies at Jim Thorpe
- 42 In-Home Occupational Therapies with SoonerStart
- 9 In-Home Vision Therapies with SoonerStart
- 7 In-Home Visits from OPAT
- 9 Months on the Ketogenic Diet (plus several months in 2011)
- 365 Doses of Melatonin
- 31 Medicine and/or Dose Changes
- 1 Surgery - to put in the Vagus Nerve Stimulator
- 812 Seizures - approximately - including Tonic, Partial Onset and Absent
- 1 DIAGNOSIS OF CDKL5
- 43 Sunday Suppers with the grandparents!
- 8 Trips to the Zoo
- 3 Family Photo Sessions
- 6 Seizure Free Days
- 1billion hugs and kisses :)
So there you have it, our year in a nutshell. Looks crazy all down in numbers and puts it all in perspective to me - gosh, it was an exhausting but fun year and there's another one ahead of us now!
HAPPY NEW YEAR!!!
Sunday, December 23, 2012
Surgery & Healing
Rayleigh Bug's surgery to get the Vagus Nerve Stimulator (VNS) put in was on Thursday. We were to check in at 5:30a and the surgery would start at 7:15a. Of course, Miss Bug thought it would be a great idea to start the day at 2:30a! So, needless to say, we were dragging our feet to the hospital at 5:30!
We arrive and check in and shortly after that they take us back to the "holding room" where they explain how the day will go and we get Bug's gown on her. Dr. Yaun, the neurosurgeon, came back to let us know what to expect and answer any last minute questions and then the anesthesiologist came in to do the same.
After an hour in that room it's time to take her back and start anesthesia. She had fallen asleep in the holding room so they expected no issues at all getting anesthesia to her. They would do it through a breathing mask which she tolerated very well the last couple of times she went under anesthesia. Michael and Lovie went straight to the waiting room but I got to walk with Bug until they took her to the next room to prepare for anesthesia.
It's a wierd feeling in that room. You've mentally prepared yourself, you are confident in the surgeon, but you find yourself with this small nervous feeling or something. I started tearing up and telling Bug how strong she is and explaining what will happen and how she'll feel when she wakes up but that I will be right there when she does and that Dr. Yaun and the nurses will take extra good care of her and I give her lots of kisses. Then I compose myself and head to the waiting room.
Once I'm back in the waiting room I'm feeling pretty good again. I know she's in good hands and that the surgeon has done this surgery without complications every time!
About 40 minutes into the waiting I receive a phone call from the nurse letting me know that anesthesia went perfect and Dr. Yaun started 20 minutes and it was going very well and that Dr. Yaun will be in once she's finished to let us know how it goes.
So we wait, and wait, and wait. We see families come in and wait, crying or showing no emotion. We see doctors come in one after another to let families know how their child's surgery went and then the flood of relief on that families face.
Then after 2 hours in the waiting room we see Dr. Yaun coming past the glass wall and as soon as she turns the corner and finds us she starts beaming and our flood of relief begins before she even speaks! And she says that it went perfectly and Rayleigh had the perfect skin and muscles for VNS placement and the leads attached right onto the vagus nerve like they should! She said that they turned the VNS on to do a couple test pulses and it did exactly what it should!
A little bit later a nurse comes and gets me to see her in Recovery. She is still in and out of sleep and very groggy but she's there, my strong baby girl! Only one at a time is allowed in Recovery so I take my time with my Bug then trade spots with Michael so he can see his baby goo, too!
Then they take us to a Step Down area which is just little rooms with curtain doors to stay until they discharge you. We are all allowed in the Step Down room so now Lovie gets to see her, too! We're calling and updating family members and making sure Bug tolerates juice and then they release us around noon.
She did very well the rest of the day at home, still a little groggy but not really sleeping anymore. Then Friday we continued doing Tylenol/Ibuprofen every 3 hours to manage pain but she was doing great! She was moving around and laying on her side and not too fussy. She is so strong.
Dr. Yaun told us we could take the bandages off on Saturday so we did that yesterday afternoon and I was like "Whoa, they cut my kid open!" haha
She should be feeling great for Christmas and then the next week we will see her neuro to activate the VNS and start the pulses very slowly.
Thank you to everyone who thought about, prayed for, and sent well wishes for a successful surgery and quick recovery! We love you all - Bug is blessed to have all of your support :)
Wednesday, December 5, 2012
Rescheduled With No Date
I thought I would be posting more about Rayleigh's VNS by now but that will have to wait. Unfortunately, her surgery has been pushed back again. It was originally scheduled for November 29th but our secondary insurance had the payment as pending so the hospital had to wait because they need it paid in full before they can operate. So we were given a new date of December 13th. Then, the neurosurgeon's office called this week to tell us that our secondary insurance is now saying that the VNS is not FDA approved for children under 12 years old and they are wanting a lot of "proof" that this is a good idea for Rayleigh. They want copies of her MRIs, EEGs and letters from her neurologist, epileptologist and neurosurgeon. I have no doubt that these letters will get written and sent promptly but I highly doubt they will be read soon.
This time, they have rescheduled us without a date. The office will call us when they hear from our secondary insurance and we will set a date then. The nurse said it will likely be in the New Year.
I don't know why this upsets me as much as it does, but I'm really sad about the whole deal. Maybe its because I'm the kind of person that goes by the calendar, maybe it's because I've always been a little sad when something I've wanted gets puts off but I really think it's because I want this for Bug so bad.
This time, they have rescheduled us without a date. The office will call us when they hear from our secondary insurance and we will set a date then. The nurse said it will likely be in the New Year.
I don't know why this upsets me as much as it does, but I'm really sad about the whole deal. Maybe its because I'm the kind of person that goes by the calendar, maybe it's because I've always been a little sad when something I've wanted gets puts off but I really think it's because I want this for Bug so bad.
I feel like the quicker she gets the VNS put in, the faster we can
activate it and the faster we can see the results.
Like every day matters.
Really quickly I will let you know that Rayleigh Bug has been on the full dose of the new medicine and has been Lamictal-free for 2 weeks now. She tolerated the transition fairly well (compared to previous medicine/dose changes). She is finally starting to take naps in the middle of the day again - something that stopped when she was taking Lamictal. Bug's seizure frequency and severity has gone down in the last couple of weeks and we aren't seeing any side effects. Well, maybe crankiness but she is also cutting her last molar so it could be attributed to that...
Rayleigh's been a happier girl these days, even flashing smiles again!! And she seems stronger. I think it's a combination of hard work and putting weight back on again!
 |
| Photo taken in October 2012 |
She is one tough cookie!
Sunday, October 7, 2012
Quitting Keto
Bug has officially been off the Ketogenic Diet for 5 full days. We are having a lot of fun exploring new foods with her and seeing her likes and dislikes. Really though, there are very few dislikes!
It was really crazy when the pediatric epileptologist told us last week to quit the Keto Diet. He said that she didn't need to wean since we were already at a 3.25:1 ratio. He said to just start feeding her normal toddler foods. And my immediate response was, "What in the world do I feed her?!?? I haven't fed a toddler anything but heavy cream, butter and tiny amounts of carbs and proteins - and it's all weighed!" haha! Well, we figured it and...
I am very happy to report that Bug has been eating so much better since we quit the diet. We have also been able to stop all anti-acids and Miralax! And it's not just the eating that has improved, it's her whole mood!! She is happy so much more of the day than she was a couple of weeks ago. We used to have a "fussy time" with Bug every night starting around 6p and not ending until at least 8:30p, but the last 3 days she only fussed from 6:30-7p and then today we had NO fussy time!! She has been just amazing!
Now, I don't know if we can give all the credit to getting her off the diet, we did also lower her Lamictal a little over a week ago and that was already showing improvement in her mood and mildly in her eating. And at her visit with the pediatric epileptologist last Tuesday he advised us to go up on Bug's Vimpat to 1 pill in the morning and stay at 1/2 pill at night after we were off the diet for 5 days so we started that today. He doesn't like to do several things at once so that we can know what's doing what. So we raised the Vimpat this morning. No change noted except NO FUSSY TIME!! :)
So back to the topic of quitting Keto. We came home from the doctor's appointment and I made Bug a lunch of deli turkey and provolone cheese all chopped up, peanut butter Cheerios, carrot tomato baby food, and applesauce with berries. She loved it all and had a happy plate. (aka clean plate, empty plate, you get it - she ate every bite!! hehe)
Some of her new favorites are YoToddler yogurts, oatmeal, Earth's Best Chicken Tenders and Stars pasta baby food, hot dog, and peaches in syrup. In fact, I would say that right now those little cups of diced peaches in syrup are her current favorite thing!
So we'll keep exploring and we're just so happy with how well she transitioned to basic eating AND how much better her eating and her mood have been since quitting Keto. We gave the Keto Diet a good, long run but it just got to a point where it was doing more harm than good (in the doctor's words) so we put an end to it. I think we can all agree that it was the right choice for Buggie!
------------------------------
Bug's current medications:
Clobazam/Onfi, 10mg- 3 times a day
Lamictal/Lamatragine, 25mg- 2 pills morning, 3 pills at night
Vimpat, 50 mg- 1 pill morning, 1/2 pill at night
Quit the Ketogenic Diet
Bug's current seizure control:
She is having 2-4 seizures a day. One is usually early in the morning, then maybe one in the afternoon, and then one or more at bedtime. The seizures are small tonic seizures that tense her up and her body curls in. She is breathing pretty well during the whole seizure and they have been no longer than 90 seconds, most under 40 seconds.
It was really crazy when the pediatric epileptologist told us last week to quit the Keto Diet. He said that she didn't need to wean since we were already at a 3.25:1 ratio. He said to just start feeding her normal toddler foods. And my immediate response was, "What in the world do I feed her?!?? I haven't fed a toddler anything but heavy cream, butter and tiny amounts of carbs and proteins - and it's all weighed!" haha! Well, we figured it and...
I am very happy to report that Bug has been eating so much better since we quit the diet. We have also been able to stop all anti-acids and Miralax! And it's not just the eating that has improved, it's her whole mood!! She is happy so much more of the day than she was a couple of weeks ago. We used to have a "fussy time" with Bug every night starting around 6p and not ending until at least 8:30p, but the last 3 days she only fussed from 6:30-7p and then today we had NO fussy time!! She has been just amazing!
Now, I don't know if we can give all the credit to getting her off the diet, we did also lower her Lamictal a little over a week ago and that was already showing improvement in her mood and mildly in her eating. And at her visit with the pediatric epileptologist last Tuesday he advised us to go up on Bug's Vimpat to 1 pill in the morning and stay at 1/2 pill at night after we were off the diet for 5 days so we started that today. He doesn't like to do several things at once so that we can know what's doing what. So we raised the Vimpat this morning. No change noted except NO FUSSY TIME!! :)
So back to the topic of quitting Keto. We came home from the doctor's appointment and I made Bug a lunch of deli turkey and provolone cheese all chopped up, peanut butter Cheerios, carrot tomato baby food, and applesauce with berries. She loved it all and had a happy plate. (aka clean plate, empty plate, you get it - she ate every bite!! hehe)
Some of her new favorites are YoToddler yogurts, oatmeal, Earth's Best Chicken Tenders and Stars pasta baby food, hot dog, and peaches in syrup. In fact, I would say that right now those little cups of diced peaches in syrup are her current favorite thing!
So we'll keep exploring and we're just so happy with how well she transitioned to basic eating AND how much better her eating and her mood have been since quitting Keto. We gave the Keto Diet a good, long run but it just got to a point where it was doing more harm than good (in the doctor's words) so we put an end to it. I think we can all agree that it was the right choice for Buggie!
------------------------------
Bug's current medications:
Clobazam/Onfi, 10mg- 3 times a day
Lamictal/Lamatragine, 25mg- 2 pills morning, 3 pills at night
Vimpat, 50 mg- 1 pill morning, 1/2 pill at night
Quit the Ketogenic Diet
Bug's current seizure control:
She is having 2-4 seizures a day. One is usually early in the morning, then maybe one in the afternoon, and then one or more at bedtime. The seizures are small tonic seizures that tense her up and her body curls in. She is breathing pretty well during the whole seizure and they have been no longer than 90 seconds, most under 40 seconds.
Tuesday, October 2, 2012
The Results Are In!
I won't leave you hanging
Rayleigh received a diagnosis today.
She has CDKL5.
Now I'll start at the beginning of today's doctor appointment.
Bug had a appointment today with her pediatric epileptologist and the genetic team he works with. This was a routine visit but we would be discussing the genetic disorder CDKL5. We assumed we would have to redraw Bug's blood to redo the test because the results were still not in.
We saw the genetics team first and they went over her medical history since her last genetics visit which was over a year ago. Then they asked about the CDKL5 results and we explained to them how we had been calling the neuro office and the lap weekly for the results. We went into all the details that I wrote about in this blog post... and this post. The geneticist sent out a member of his team to call the lab that her blood was sent to directly. When she returned she said that they just finished the test yesterday and they are faxing the results over RIGHT NOW! I was shocked and I'm pretty sure Michael's jaw hit the floor. Definitely not the news we expected!
While waiting for the results to arrive we went ahead and saw the epileptologist. He said that we need to come up with a new plan of action on Bug's treatment because his goal, no matter what the results, is to get Bug to zero seizures and zero side effects - a high goal but he wants to get as close to achieving it as we can! He advised us to go ahead and get Rayleigh Bug off the Ketogenic Diet. He believes (as do we) that it is now doing more harm than good. Obviously her seizures aren't controlled and on the diet her reflux and other tummy issues are off the charts. I'll do a separate post on quitting the Keto Diet.
The epileptologist also wants us to go up on the Vimpat, a week after getting off the diet, and stay at the current, lower Lamictal dose. Bug is doing better with the lower Lamictal - taking naps more, much happier through the day, and eating well!
Then he excused himself for a few minutes to check with genetics on the results of her test.
When he returned he was accompanied by the entire genetics team. They wasted no time in telling us that the results are in and she does have the genetic mutation. A member of the team handed me the following paper:
The final report was done yesterday, October 1, 2012, and the mutation on CDKL5 is on her p.Q347X. I will do a seperate blog post on the specifics of CDKL5. In short, it is a genetic disorder that presents seizures and severe developmental/cognitive delays that usually start within the first year of life. The seizures are generally difficult to control and there is currently no treatment or cure.
For more information visit the International Foundation for CDKL5 Page.
This news was not surprising to us. I think we've known, or felt, that this is what Rayleigh has since the day months ago that a dear friend let us know that their daughter was diagnosed with CDKL5.
I've been a part of the CDKL5 group on Facebook since we started raising money to have this test done and I have felt like family from day one of joining but now I know my baby Bug belongs to that group.
The geneticists and epileptologist were all impressed at how well we took the news and how knowledgeable we were about CDKL5 and what the diagnosis means. It's reassuring to know that Rayleigh has such an amazing group of people that love her and care for her and know just how amazing and strong she truly is.
I got a little emotional after the group of doctors left the room to gather papers for us. Not because Bug has CDKL5. But because this has been such a trying journey and now we have our answer. All the testing, all the questioning, all the insurance crap, we have a diagnosis. We have our answer.
They call those that are diagnosed with CDKL5 "angels" and I think we can all agree that Bug is just another sweet angel.
Rayleigh received a diagnosis today.
She has CDKL5.
Now I'll start at the beginning of today's doctor appointment.
Bug had a appointment today with her pediatric epileptologist and the genetic team he works with. This was a routine visit but we would be discussing the genetic disorder CDKL5. We assumed we would have to redraw Bug's blood to redo the test because the results were still not in.
We saw the genetics team first and they went over her medical history since her last genetics visit which was over a year ago. Then they asked about the CDKL5 results and we explained to them how we had been calling the neuro office and the lap weekly for the results. We went into all the details that I wrote about in this blog post... and this post. The geneticist sent out a member of his team to call the lab that her blood was sent to directly. When she returned she said that they just finished the test yesterday and they are faxing the results over RIGHT NOW! I was shocked and I'm pretty sure Michael's jaw hit the floor. Definitely not the news we expected!
While waiting for the results to arrive we went ahead and saw the epileptologist. He said that we need to come up with a new plan of action on Bug's treatment because his goal, no matter what the results, is to get Bug to zero seizures and zero side effects - a high goal but he wants to get as close to achieving it as we can! He advised us to go ahead and get Rayleigh Bug off the Ketogenic Diet. He believes (as do we) that it is now doing more harm than good. Obviously her seizures aren't controlled and on the diet her reflux and other tummy issues are off the charts. I'll do a separate post on quitting the Keto Diet.
The epileptologist also wants us to go up on the Vimpat, a week after getting off the diet, and stay at the current, lower Lamictal dose. Bug is doing better with the lower Lamictal - taking naps more, much happier through the day, and eating well!
Then he excused himself for a few minutes to check with genetics on the results of her test.
When he returned he was accompanied by the entire genetics team. They wasted no time in telling us that the results are in and she does have the genetic mutation. A member of the team handed me the following paper:
The final report was done yesterday, October 1, 2012, and the mutation on CDKL5 is on her p.Q347X. I will do a seperate blog post on the specifics of CDKL5. In short, it is a genetic disorder that presents seizures and severe developmental/cognitive delays that usually start within the first year of life. The seizures are generally difficult to control and there is currently no treatment or cure.
For more information visit the International Foundation for CDKL5 Page.
This news was not surprising to us. I think we've known, or felt, that this is what Rayleigh has since the day months ago that a dear friend let us know that their daughter was diagnosed with CDKL5.
I've been a part of the CDKL5 group on Facebook since we started raising money to have this test done and I have felt like family from day one of joining but now I know my baby Bug belongs to that group.
The geneticists and epileptologist were all impressed at how well we took the news and how knowledgeable we were about CDKL5 and what the diagnosis means. It's reassuring to know that Rayleigh has such an amazing group of people that love her and care for her and know just how amazing and strong she truly is.
I got a little emotional after the group of doctors left the room to gather papers for us. Not because Bug has CDKL5. But because this has been such a trying journey and now we have our answer. All the testing, all the questioning, all the insurance crap, we have a diagnosis. We have our answer.
They call those that are diagnosed with CDKL5 "angels" and I think we can all agree that Bug is just another sweet angel.
Sunday, September 23, 2012
No Feeding Tube... Yet
Rayleigh had a visit with her pediatrician last Monday. We discussed how poorly Bug has been eating and also how she's been behaving and how seizure control has been. She is referring us a GI doctor that is familiar with the Keto Diet and with children that have neuro disorders. I have to call tomorrow to get that appointment scheduled. The pediatrician also wants us to talk to Bug's neurologist about her medicines because she thinks they could be the problem and that would be an easier fix.
I talked with her neuro on the phone for about 30 minutes going through Bug's seizure journal that I keep. It's just a notebook that I write each day of all of her seizures, changes in meds, mood/temperment, how she ate and if she was ill or teething that day. We went back through several months to figure out when was the last time she was eating well AND had fairly good seizure control. It appears that the best she was doing in recent months was when we were still on a low dose of Lamictal and working out way up on it AND was still taking a small dose of the Vimpat.
So here's our game plan: Stay on the 3.25:1 ratio of the Ketogenic Diet for a little while longer (she's tolerating well enough and we don't want to make too many changes at once). Meanwhile, we'll stay on 1 pill of Clobazam/Onfi 3 times a day and the changes will be to lower Lamictal in the morning to 2 pills and keep doing 3 pills at night and we are back to 1/2 pill Vimpat twice a day.
- Long story longer -
Bug's pediatrician said that Bug may have built an immunity to the Prevacid because it's really only meant to be taken for a couple of weeks at a time and Bug has been on it for months as a daily antiacid. She said rather than continuing to raise the dose every time it stops controlling the reflux she wants us to switch Bug to Nexium so we started that yesterday and she seems to be doing well on it. She vomitted last night but I think it was the adjustment from no Prevacid to a new medicine that takes a couple of days to take effect. No vomit or acidy smells today so I think the Nexium is doing it's job now.
Bug is still not eating well. We'll keep pushing until we figure something out that works for her. The pediatrician said Bug is down to 25 lbs which is only 20-30 percentile for weight. She's lost 13% of her body fat which is a big deal and has all of her doctor team working hard to find a fix - and her parents, too!
I talked with her neuro on the phone for about 30 minutes going through Bug's seizure journal that I keep. It's just a notebook that I write each day of all of her seizures, changes in meds, mood/temperment, how she ate and if she was ill or teething that day. We went back through several months to figure out when was the last time she was eating well AND had fairly good seizure control. It appears that the best she was doing in recent months was when we were still on a low dose of Lamictal and working out way up on it AND was still taking a small dose of the Vimpat.
So here's our game plan: Stay on the 3.25:1 ratio of the Ketogenic Diet for a little while longer (she's tolerating well enough and we don't want to make too many changes at once). Meanwhile, we'll stay on 1 pill of Clobazam/Onfi 3 times a day and the changes will be to lower Lamictal in the morning to 2 pills and keep doing 3 pills at night and we are back to 1/2 pill Vimpat twice a day.
- Long story longer -
Bug's pediatrician said that Bug may have built an immunity to the Prevacid because it's really only meant to be taken for a couple of weeks at a time and Bug has been on it for months as a daily antiacid. She said rather than continuing to raise the dose every time it stops controlling the reflux she wants us to switch Bug to Nexium so we started that yesterday and she seems to be doing well on it. She vomitted last night but I think it was the adjustment from no Prevacid to a new medicine that takes a couple of days to take effect. No vomit or acidy smells today so I think the Nexium is doing it's job now.
Bug is still not eating well. We'll keep pushing until we figure something out that works for her. The pediatrician said Bug is down to 25 lbs which is only 20-30 percentile for weight. She's lost 13% of her body fat which is a big deal and has all of her doctor team working hard to find a fix - and her parents, too!
Tuesday, September 4, 2012
We Thought We'd Have Some Answers By Now
Well, the title pretty much sums it all up. Rayleigh is 2 1/2 years old. We've been on the epilepsy road for over 2 years with no explanation of why. We finally found a genetic disorder that she really seems to fit (CDKL5) but the results are taking FOREVER! Or at least it feels like it.
I've been calling the epileptologist's office twice a week, every week, for the past month to check on the status or see if they've gotten the results and every time I hear the same thing "We have the results for the Rett Syndrome test and they are negative, we are not showing any other DNA results back."
Then I have to go through and explain the specific EIEE test that we had saved and earned money for to get Bug tested for CDKL5 along with 2 other rare genetic disorders.
I did this last Friday and his nurse said, "There's a DNA test result in here, has Dr. Ng called you with the results?" I informed her that the only results we've received were through the mail and were negative Rett test and normal glucose levels. She said that she would flag that test and have Dr. Ng call us.
Then she called us today and said that Dr. Ng reviewed all of the test results on her file and she is negative for Rett. I was thinking "Are you kidding me?!? I get it. No Rett. That is not what I have been calling about." So I politely asked if there are any other genetic tests that have come back and explained exactly which test results we were waiting on and she said that those results weren't in there but she would talk to the epileptologist and get back to us shortly with either the results or the status of the testing. She didn't return my call today so I'm expecting to hear back from her tomorrow morning - or I'll be calling again, the nagging patient gets the results (my father-in-law always says "The squeaky wheel gets the oil").
I just don't understand what could be taking so long and why there is so little I can do from my end. I am one frustrated mommy tonight.
I keep trying to reassure myself by saying things like "What's one more day? It's been this long already." But seriously, I want to know yesterday!!! That being said, I went ahead and joined the CDKL5 group on Facebook as suggested by a friend and they really feel like family already. So I'll keep focusing on the positive and nagging nurses and waiting (impatiently) until those results come in. And I promise to keep you posted :)
--------------------------------
Bug's current medications & control:
I've been calling the epileptologist's office twice a week, every week, for the past month to check on the status or see if they've gotten the results and every time I hear the same thing "We have the results for the Rett Syndrome test and they are negative, we are not showing any other DNA results back."
Then I have to go through and explain the specific EIEE test that we had saved and earned money for to get Bug tested for CDKL5 along with 2 other rare genetic disorders.
I did this last Friday and his nurse said, "There's a DNA test result in here, has Dr. Ng called you with the results?" I informed her that the only results we've received were through the mail and were negative Rett test and normal glucose levels. She said that she would flag that test and have Dr. Ng call us.
Then she called us today and said that Dr. Ng reviewed all of the test results on her file and she is negative for Rett. I was thinking "Are you kidding me?!? I get it. No Rett. That is not what I have been calling about." So I politely asked if there are any other genetic tests that have come back and explained exactly which test results we were waiting on and she said that those results weren't in there but she would talk to the epileptologist and get back to us shortly with either the results or the status of the testing. She didn't return my call today so I'm expecting to hear back from her tomorrow morning - or I'll be calling again, the nagging patient gets the results (my father-in-law always says "The squeaky wheel gets the oil").
I just don't understand what could be taking so long and why there is so little I can do from my end. I am one frustrated mommy tonight.
I keep trying to reassure myself by saying things like "What's one more day? It's been this long already." But seriously, I want to know yesterday!!! That being said, I went ahead and joined the CDKL5 group on Facebook as suggested by a friend and they really feel like family already. So I'll keep focusing on the positive and nagging nurses and waiting (impatiently) until those results come in. And I promise to keep you posted :)
--------------------------------
Bug's current medications & control:
- Ketogenic Diet 3.5:1 ratio
- Onfi/Clobazam, 10mg: 1 pill 3 times a day
- Vimpat, 25 mg once at night
- Lamictal, 25mg: 3 pills twice a day - just started this dose today, full dose
Wednesday, August 8, 2012
Whirlwind of 2 Weeks
Nope. No diagnosis results yet. Just filling my time until it arrives in the mail. I've literally been checking the mailbox several times a day. I even check it again once after I've collected the delivered mail just in case I missed it earlier or maybe a different mailman brought it later. Logically I know it's not the case but I can't help it, I want the results yesterday!
Anyway, last week was pretty bad and kept me on my toes. Rayleigh Bug had gastritis again. She was throwing up at least once a day and her burps smelled like acid. We saw her pediatrician and she told us to give Bug 2 Prevacid a day instead of just one for the rest of week to control the acids. This helped almost instantly but then over the weekend we tried to go back to just 1 Prevacid like she said and the acid burps came back and then last night a little spit up so we're doing 2 Prevacid today. I'm waiting to hear back from her dietitian to see if we can go down on her Ketogenic Diet ratio to 3.75:1 or 3.5:1. She is currently on the highest ratio of 4:1. For those of you not familiar with the diet, the ratio means 4 times the amount of fat over the amount of carbs+protein combined.
This is her second time having gastritis since being on the 4:1 ratio. Plus we didn't see a noteworthy improvement of seizure control when we raised the ratio from 3.5:1 to 4:1.
This this Monday little Miss Bug had an EEG. Which means we had to sleep deprive her the night before. They say for 2 year olds that she can only have 3 hours of sleep the night before and only in the middle of the night. The EEG was at 12:30 with check in at noon. It took 2 hours just to get her fully awake - it came to the point where we had to just strap her into her bath seat and shower her :( but it worked with very little traumatization. And we were able to keep her awake fairly easy and right around 11:30 she started acting very sleepy and then at noon while we were checking in she was falling asleep so we hurried upstairs and they showed us the room and she fell asleep within 2 minutes of laying down! The EEG techs were impressed!
They don't require you to sleep deprive the children for the sole purpose that they will sleep during the EEG. While they do require most of the test to be done during sleeping, sleep deprivation makes the neuro issues more apparent and more likely to occur during the EEG. When she's napping she doesn't normally have a seizure but because of the sleep deprivation she did have one for the EEG so they were able to capture that activity. We see her neuro Monday to get results and talk about the meds.
Current medications she's on: Ketogenic Diet 4:1, Vimpat, 50mg 1 pill twice a day, Clobozam/Onfi 10mg, 1 pill 3 times a day, Lamictal, 25mg, 1/2 pill twice a day.
Seizure control: Bug is having 2-5 seizures a day, mostly over night during her sleep. Partial seizures, wakes up, tenses, labored breathing, sometimes twitches, then she goes back to sleep.
Anyway, last week was pretty bad and kept me on my toes. Rayleigh Bug had gastritis again. She was throwing up at least once a day and her burps smelled like acid. We saw her pediatrician and she told us to give Bug 2 Prevacid a day instead of just one for the rest of week to control the acids. This helped almost instantly but then over the weekend we tried to go back to just 1 Prevacid like she said and the acid burps came back and then last night a little spit up so we're doing 2 Prevacid today. I'm waiting to hear back from her dietitian to see if we can go down on her Ketogenic Diet ratio to 3.75:1 or 3.5:1. She is currently on the highest ratio of 4:1. For those of you not familiar with the diet, the ratio means 4 times the amount of fat over the amount of carbs+protein combined.
This is her second time having gastritis since being on the 4:1 ratio. Plus we didn't see a noteworthy improvement of seizure control when we raised the ratio from 3.5:1 to 4:1.
This this Monday little Miss Bug had an EEG. Which means we had to sleep deprive her the night before. They say for 2 year olds that she can only have 3 hours of sleep the night before and only in the middle of the night. The EEG was at 12:30 with check in at noon. It took 2 hours just to get her fully awake - it came to the point where we had to just strap her into her bath seat and shower her :( but it worked with very little traumatization. And we were able to keep her awake fairly easy and right around 11:30 she started acting very sleepy and then at noon while we were checking in she was falling asleep so we hurried upstairs and they showed us the room and she fell asleep within 2 minutes of laying down! The EEG techs were impressed!
They don't require you to sleep deprive the children for the sole purpose that they will sleep during the EEG. While they do require most of the test to be done during sleeping, sleep deprivation makes the neuro issues more apparent and more likely to occur during the EEG. When she's napping she doesn't normally have a seizure but because of the sleep deprivation she did have one for the EEG so they were able to capture that activity. We see her neuro Monday to get results and talk about the meds.
Current medications she's on: Ketogenic Diet 4:1, Vimpat, 50mg 1 pill twice a day, Clobozam/Onfi 10mg, 1 pill 3 times a day, Lamictal, 25mg, 1/2 pill twice a day.
Seizure control: Bug is having 2-5 seizures a day, mostly over night during her sleep. Partial seizures, wakes up, tenses, labored breathing, sometimes twitches, then she goes back to sleep.
Thursday, July 26, 2012
Bug in Theratogs
Well, while we are anxiously awaiting the test I will fill my time by writing a little blog about Bug's new TheraTogs. Bug has been wearing them for about a month now. Once on her, they look like some sort of spandex bodysuit. The TheraTogs catch-phrase is "Therapy You Wear". Bug's physical therapist at Jim Thorpe Rehab recommended them for Rayleigh Bug. She said it would help with Bug's low muscle tone and her sensory issues.
Here are some lines from around the TheraTogs website:
And if you're interested in the Research and Studies that have been done on Theratogs you can visit http://theratogs.com/Research.aspx.
In a nutshell, for Bug, Theratogs are meant to help support her low muscle tone because they wrap around tightly and hold her snug and give her deep input. Like it says above, they provide a wearable hug. They release the same feel-good hormones as a long hug or petting an animal which helps with her sensory issues.
She wears them every day, all day, and takes them off for sleeping. They are hand-washable, and I wash them about every other day. They stretch out but after washing them they form back to their shape.
This is what the basic suit looks like:
And then we've added this back strap which helps tremendously with her back arching:
And we just recently added these 3 straps across the belly, one straight across and the other 2 form an "x" across her tummy. These are supposed to help her stay forward in the sitting position but I haven't seen much difference between adding the back strap and then adding these.
At first, when it was just the suit, I didn't think these would be something we would need to stick with for long because we weren't seeing effects but after adding the strappings we can all tell that they help!
This is something new I'll be including at the end of each blog, Rayleigh's Stats:
Medicine: Ketogenic Diet, 4:1 ratio; Clobazam, 1 10mg pill 3 times a day; Vimpat, 50mg pill 1 in morning & 1 1/2 at night; Lamictal, 1 5mg pill twice a day.
Seizure Control: This week she has only been having 1-2 seizures a day. They are lasting about 10-25 seconds. She locks up, labored breathing, eyes look left and then she relaxes and breaths normal and goes back to sleep - they have all been during sleep as of this week.
Here are some lines from around the TheraTogs website:
For patients with biomechanical or neuromotor issues
TheraTogs work by allowing the clinician to set the patient’s body in proper functional alignment, and letting them re-train their body through the ‘practice’ of daily activities. By applying prolonged, gentle forces during activity, TheraTogs can actually change the muscle and connective tissue – and for infants and young children, bone and joint development as well – in favor of better function and better alignment.
For patients with sensory and sensorimotor issues
TheraTogs work by applying consistent, gentle compression and proprioceptive input across the entire trunk, and by offering stability and support in a dynamic system that moves with the patient.
For sensory
integration/sensory processing applications...A snugly-fit
TheraTogs system provides the wearer with gentle, consistent proprioceptive and
deep pressure input - a 'wearable hug' worn discreetly under clothing.
Here's there prochure with some more great bullet-points and information about TheraTogs for children http://theratogs.com/Doc/pdfs/TheraTogs_Corporate_Brochure.pdf
In a nutshell, for Bug, Theratogs are meant to help support her low muscle tone because they wrap around tightly and hold her snug and give her deep input. Like it says above, they provide a wearable hug. They release the same feel-good hormones as a long hug or petting an animal which helps with her sensory issues.
She wears them every day, all day, and takes them off for sleeping. They are hand-washable, and I wash them about every other day. They stretch out but after washing them they form back to their shape.
These are all the pieces that wrap around her to form the TheraTogs
 |
| This is how they go together - it's a puzzle |
 |
| The inside, that touches her skin, is like a soft leathery foam |
This is what the basic suit looks like:
 |
| The white tabs are plastic and have velcro-like teeth on one side that adhere to the gold fabric |
 |
| Here they are under her clothes |
And then we've added this back strap which helps tremendously with her back arching:
And we just recently added these 3 straps across the belly, one straight across and the other 2 form an "x" across her tummy. These are supposed to help her stay forward in the sitting position but I haven't seen much difference between adding the back strap and then adding these.
At first, when it was just the suit, I didn't think these would be something we would need to stick with for long because we weren't seeing effects but after adding the strappings we can all tell that they help!
This is something new I'll be including at the end of each blog, Rayleigh's Stats:
Medicine: Ketogenic Diet, 4:1 ratio; Clobazam, 1 10mg pill 3 times a day; Vimpat, 50mg pill 1 in morning & 1 1/2 at night; Lamictal, 1 5mg pill twice a day.
Seizure Control: This week she has only been having 1-2 seizures a day. They are lasting about 10-25 seconds. She locks up, labored breathing, eyes look left and then she relaxes and breaths normal and goes back to sleep - they have all been during sleep as of this week.
Monday, June 18, 2012
Catch Up Post
Wow. I cannot believe it has been over a month since I've posted anything. Not many new things have been happening for me to post about, I suppose.
Well, that's not entirely true. We've made some changes. Bug is still on a 4:1 ratio on the Ketogenic Diet and trying new foods all of the time! She's still such a good eater! Bug is also still on the same dose of Clobozam, 1 pill 3 times a day. The change is that we added Vimpat about a month ago and then raised the dose of it about 2 weeks after starting it and that's when we started seeing improvements. The head drops decreased. But she has been having partial seizures.
A partial seizure happens in a specific side of the brain (left side for Bug), the body generally tenses up, arms will extend with clutched hands, legs will extend with curled toes and face will redden. Bug breaths well the entire time for most of these seizures, she also looks off to the left side with her eyes and occasionally smacks her lips throughout the seizure. Hers only last 15-45 seconds, and sometimes it's less than 10 seconds.
While a partial seizure isn't as harmful on the brain as infantile or epileptic spasms, it is still scary and definitely something we want to fully control. Infantile or epileptic spasms can be worse because they cause a lot spike and slowing activity in the background of the brain along with spike activity during the actual spasm. With partial seizures, her brain activity is more normal between seizures allowing for more development.
That being said, we still have not made many new milestones. She can now take the sippy cup to her mouth from the tray on the highchair if we put her hands on it. And she will take it to her mouth when you put the cup in her mouth while she's propped up or being held every time. She's still arching and resisting the sitting position, we're getting Theratogs that might help (that will surely be it's own post). And she doesn't have the same muscle tone in her legs that she used to. Bug outgrew her Jumperoo and her walker over a month ago and the Lecky Squiggles stander that we ordered is still not in. So the only standing she's getting done is when we hold her up and at 27.6 lbs we can't hold her very long but we're working on it!
We just increased her Vimpat again on Wednesday because she was still having 2-4 partial seizures a day. Before raising the levels (a week before, actually) we took her up to get her blood drawn so labs could check her Vimpat levels.
Her level was low + continued partial seizures = raising the dose.
So, the worse part about raising Vimpat is this: Every time we raise the dose we go through a rough couple of weeks. There are side effects with all medicines that affect children differently so this is just our experience.
Week 1 of the raised dose comes with insomnia. Insomnia comes with crankiness and both of those lead to more seizures. It's bizarre that she has more seizures when we raise a medicine that is meant to control seizures.
Week 2 of the raised dose involves drowsiness and irritability. The drowsiness only really becomes a problem for her physical and occupational therapies, all she wants to do that week is sleep through them all. The irritability is pretty bad though, she acts like a full on 16 year old girl and it seems like nothing I do makes her happy. But the week after those 2 are over things really settle down and we get the chance to see how the new dose is acting. So give me 2 weeks before I report any change on that :) Hopefully I'll have good news to share!
Well, that's not entirely true. We've made some changes. Bug is still on a 4:1 ratio on the Ketogenic Diet and trying new foods all of the time! She's still such a good eater! Bug is also still on the same dose of Clobozam, 1 pill 3 times a day. The change is that we added Vimpat about a month ago and then raised the dose of it about 2 weeks after starting it and that's when we started seeing improvements. The head drops decreased. But she has been having partial seizures.
A partial seizure happens in a specific side of the brain (left side for Bug), the body generally tenses up, arms will extend with clutched hands, legs will extend with curled toes and face will redden. Bug breaths well the entire time for most of these seizures, she also looks off to the left side with her eyes and occasionally smacks her lips throughout the seizure. Hers only last 15-45 seconds, and sometimes it's less than 10 seconds.
While a partial seizure isn't as harmful on the brain as infantile or epileptic spasms, it is still scary and definitely something we want to fully control. Infantile or epileptic spasms can be worse because they cause a lot spike and slowing activity in the background of the brain along with spike activity during the actual spasm. With partial seizures, her brain activity is more normal between seizures allowing for more development.
That being said, we still have not made many new milestones. She can now take the sippy cup to her mouth from the tray on the highchair if we put her hands on it. And she will take it to her mouth when you put the cup in her mouth while she's propped up or being held every time. She's still arching and resisting the sitting position, we're getting Theratogs that might help (that will surely be it's own post). And she doesn't have the same muscle tone in her legs that she used to. Bug outgrew her Jumperoo and her walker over a month ago and the Lecky Squiggles stander that we ordered is still not in. So the only standing she's getting done is when we hold her up and at 27.6 lbs we can't hold her very long but we're working on it!
We just increased her Vimpat again on Wednesday because she was still having 2-4 partial seizures a day. Before raising the levels (a week before, actually) we took her up to get her blood drawn so labs could check her Vimpat levels.
Her level was low + continued partial seizures = raising the dose.
So, the worse part about raising Vimpat is this: Every time we raise the dose we go through a rough couple of weeks. There are side effects with all medicines that affect children differently so this is just our experience.
Week 1 of the raised dose comes with insomnia. Insomnia comes with crankiness and both of those lead to more seizures. It's bizarre that she has more seizures when we raise a medicine that is meant to control seizures.
Week 2 of the raised dose involves drowsiness and irritability. The drowsiness only really becomes a problem for her physical and occupational therapies, all she wants to do that week is sleep through them all. The irritability is pretty bad though, she acts like a full on 16 year old girl and it seems like nothing I do makes her happy. But the week after those 2 are over things really settle down and we get the chance to see how the new dose is acting. So give me 2 weeks before I report any change on that :) Hopefully I'll have good news to share!
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