Today Rayleigh had her first visit with our state's only pediatric epileptologist, Dr. Ng. We started out with about 20 minutes of her history: full term birth, no complications, home at 2 days old, when we noticed seizures, when we got diagnosis, that they were originally tonic-clonic seizures, that they've changed just about every single time we've changed medicines, what medicines she's been on, that she's now no longer having infantile spasms but she is back to having partial seizures, that she's on the Keto Diet, that she's taking Clobozam and Vimpat and we've got planned for the future as far as upcoming MRIs and such.
Wow.
Dr. Ng is better at explaining things than we expected him to be. He's also very good at having a long-term plan as well as a start-right-now plan. He is more aggressive than Bug's pediatric neurologist but we were told to expect that. He's also good at giving facts, statistics and percentages which we like.
It's been 2 weeks since we raised the Vimpat levels last time and we haven't really noticed much of a change. Dr. Ng prescribed going up on the Vimpat to 1 1/2 pills twice a day starting tomorrow morning (we were at 1 morning, 1 1/2 night), this will be as high on the Vimpat as she can go.
If in 2 weeks we do not see a significant decrease in seizures, he prescribed Lamictal. We have to work our way up to the full dose of Lamictal very slowly for Bug. Lamictal has only one major side-effect that happens to about 1 in 10,000 patients: a possibly fatal rash. We can decrease the chances of the rash even more than that by starting her off very small on the dose and working her way, over 3 months, up to the full dose. He said that it shouldn't cause drowsiness, irritability or many other side effects that are associated with anti-convulsants and it is a very successful drug in seizure control.
Dr. Ng's office is scheduling an EEG through their hospital for him to have a fresh look at her brain activity and he will add his name to see the results of her upcoming EEG that will be scheduled through her neuro. Other than that, he had us go down to labs to check gluclose levels and that's it for today. We see him again in 3 months along with a geneticist in his department.
Bug in Air
Tuesday, June 26, 2012
Wednesday, June 20, 2012
Garage Sale to Earn Money
To learn more about this genetic test that Rayleigh needs please read this blog post.
We are definitely not afraid to work for the money that Rayleigh needs! We have already been going through our own home finding items all over to sell. If you have anything that you would like to donate for our garage sale it would be a very appreciated contribution! We'll take anything! Clothes, picture frames, baby items, books, jewelry, kitchen items, electronics or anything you're willing to donate to the cause! Anything unsold can either be donated to a Goodwill or given back to you - whichever you prefer!
We're more than willing to come get the item(s) from you if you live in or around Oklahoma City. If you are out of town or state and would like to contribute items for the sale to raise money for this test you can mail them, contact me for information.
Tuesday, June 19, 2012
Early Infantile Epileptic Encephalopathy Test
Rayleigh's next test that is needed is called the Early Infantile Epileptic Encephalopathy (EIEE). This will test for these rare genetic disorders, each on 2 different levels: CDKL5, ARX, and STXBP1.
Information on this test provided by Athena Diagnostics Quick Guide:
The Early Infantile Epileptic Encephalopaties (EIEE), including Ohtahara Syndrome and early myoclonic epilepsy, are a group of severe epilepsy syndromes characterized by intractable early-onset seizures (generally in the first months of life) and a highly abnormal "burst-suppression" EEG pattern.
EIEE typically presents with treatment-resistant tonic spasms, focal seizures, and rarely, myoclonus. Over time, 40-60% of EIEE patients evolve to West syndrome, characterized by infantile spasms and a highly disorganized "hypsarrhythmia" EEG pattern. In general, many of these patients evolve to Lennox-Gastaut syndrome (often, but not always, between ages 3-6), which presents with mixed seizure types. Testing is indicated for individuals presenting with the above symptoms (tonic seizures, abnormal EEG, and myoclonus).
Reasons to test for EIEE:
Genetic testing can:
This test is over $10,000. Insurance is willing to pay for some of the cost but we will still owe $2,100 ourselves. We are now on a mission to raise enough money so that Rayleigh can get tested as soon as possible.
Below is the link to a fundraiser I have set up to collect some of the costs needed, please share it with anyone who may be able to help Rayleigh Bug!
If that doesn't work, try this direct link to the Fundrazr: http://fnd.us/c/eKEyc
Information on this test provided by Athena Diagnostics Quick Guide:
The Early Infantile Epileptic Encephalopaties (EIEE), including Ohtahara Syndrome and early myoclonic epilepsy, are a group of severe epilepsy syndromes characterized by intractable early-onset seizures (generally in the first months of life) and a highly abnormal "burst-suppression" EEG pattern.
EIEE typically presents with treatment-resistant tonic spasms, focal seizures, and rarely, myoclonus. Over time, 40-60% of EIEE patients evolve to West syndrome, characterized by infantile spasms and a highly disorganized "hypsarrhythmia" EEG pattern. In general, many of these patients evolve to Lennox-Gastaut syndrome (often, but not always, between ages 3-6), which presents with mixed seizure types. Testing is indicated for individuals presenting with the above symptoms (tonic seizures, abnormal EEG, and myoclonus).
Reasons to test for EIEE:
Genetic testing can:
- Provide a confirmatory diagnosis
- Genetic testing for STXBP1, ARX, CDKL5 was rated "very useful" and "highly accurate in correct clinical context" by International League Against Epilepsy (ILAE) guidelines
- STXBP1 is mutated in 36% of patients with Ohtahara Syndrome.
- Provide important inheritance and genetic counseling implications
- ARX is an X-linked disorder that is seldom inherited, providing important inheritance implications
- Determine appropriate treatment options
- STXBP1-associated seizures in EIEE may respond better to Vigabatrin
This test is over $10,000. Insurance is willing to pay for some of the cost but we will still owe $2,100 ourselves. We are now on a mission to raise enough money so that Rayleigh can get tested as soon as possible.
Below is the link to a fundraiser I have set up to collect some of the costs needed, please share it with anyone who may be able to help Rayleigh Bug!
If that doesn't work, try this direct link to the Fundrazr: http://fnd.us/c/eKEyc
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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