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 :)
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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
Unfortunately,
Bug's seizures are still at 2-5 seizures a day, they continue to
happen mostly at night after she falls asleep. She has not been napping as a side effect of going up
on Lamictal. We hope to get naps back after she has stabilized on the full dose, we'll see.
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:
- 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
As you can tell by the title of this post, I am not in the lightest of moods tonight. Bug had her checkup with the neuro today. We went in with 2 pages of questions to ask about Bug's behavior and things we've noticed. We got a lot of answers and here's pretty much the gist of it.
Rayleigh has nystagmus. It's an eye condition, not necessarily a brain condition. Simply put, nystagmus is when the eyes shake. In Rayleigh's case, her eyes only shake occasionally and not constantly. They shake side to side when she looks far to her left or right and I've also seen them rotate back and forth slightly when focusing. Her neuro said that based on what we know about Rayleigh and that she hasn't always had nystagmus that her condition was probably brought on by her seizure control medicines. Nystagmus as a result of seizure control medicine is most commonly attributed to Phenobarbital but can be a side effect of many seizure control medicines including Clobazam which Bug has been on for over a year now.
If Bug's nystagmus is a result of medication she will have the condition for as long as she is on the medication but on that same note, if it is the medicine causing the nystagmus then it will go away if/when she is off that medicine. We are making an appointment with Bug's neuro-opthomologist to find out more about nystagmus.
While we were talking with the neuro about this, Bug did her head drop. The neuro asked if this was the same type of head drop we had shown him on video back in October and we said yes. He then told us that it looked like a seizure and she did the head drop 2 more times in that 2 minute period. The neuro asked questions like when she does them (mostly when she's sleepy but also randomly rarely), how she reacts after a drop (like nothing happened, but sometimes a big head drop takes her a few seconds to recover and "come to") and then I told the neuro about this new thing that Rayleigh as been doing this week. When she's awake she will start smacking her lips, arms will go out slightly and then come back in and eyes blink.
He then confirmed (not 100% without EEG but pretty much) that we are describing myoclonic-astatic seizures.
The "head drops" are a drop seizure.
When she has the myoclonic-astatic seizure followed by a small head drop in the way that Bug does it is similar to last year when she would have a partial seizure that was followed by myoclonic jerks.
So what we thought was 12 weeks of seizure freedom was really just 12 weeks of partial onset seizure freedom.
There are 2 types of medicine that Rayleigh has not tried before that are used to control myoclonic-astatic seizures: Lamictal and Depakote. It could cause more seizures if we start one of these new medicines along with her existing medicines while on the diet. Plus, these both seem to have nasty side effects that are increased in children under 2 years old. But we know what's next to take if we have to get there.
The current plan is this: We have already increased her dose of Trileptal back up to 1/2 pill morning and 1 full pill at night along with the 1 pill of Clobazam 3 times a day. We can go up higher on the Trileptal if we need to. We will also be upping the ratio on her diet which has shown a lot of success in many cases.
The neuro says that there are several explanations for why Bug's seizures went from ONLY happening during sleep to completing changing form and happening awake. The most likely reason being that her brain is maturing as she grows older. The least likely reason being the diet.
The only good thing to take away from knowing that these have been seizures is that they do not physically hurt her or affect her mood. I do still believe that they are hindering her development though :(
The neuro is ordering an EEG with an immediate visit with him right after it's done to discuss results so I'll repost after that. It should be within the next 2 weeks. Until then, we will love our Bug just the same and enjoy Christmas with her!
It's the Christmas season once again. Such a beautiful time of year here in Oklahoma! I love the cool crisp air outside and the giving feeling and the bright lights on the houses at night! I'm hoping Bug is enjoying it as much as me. This weekend we're taking her to the light shows around town, that was one of her favorite activities last year! They're easy for her to see and the Christmas music you tune to in the car is upbeat and she sits on my lap while Michael drives through the park :)
This Christmas we feel like we've already received a gift that is better than anything Santa could bring down the chimney - Rayleigh is 12 weeks seizure free!!
We've also been weaning her Trileptal down by 1/2 pill every 4 weeks so we are currently down to 1/2 pill twice a day! She has so much more energy now! I knew we'd see some good things after getting medicine out of her system but I had no idea how drastic her energy level would change!
While those things are really really awesome I have to say that going into Bug's neuro appt tomorrow Michael and I have a ton of questions! Bug is still doing her head drops that her neuro previously told us he doesn't believe they are seizure activity but because she's still doing them occasionally when she's sleepy I want to know more about them.
She's also recently started waking up startled about 10 minutes after falling asleep. What I mean is, she falls asleep and everything is calm and fine and then she pops her eyes open and looks straight up and arms slightly go out for about 2 seconds and then she relaxes, looks around and sucks on her pacifier and then goes back to sleep shortly after.
I'm also pretty concerned that her development isn't improving any faster than it was before seizure freedom.
I just feel sometimes like as soon as we figure something out a whole new issue feels our mind.
I'll repost soon after her visit with the neuro Thursday.
Thursday morning, our 4th day at Cook Children's Hospital, went really well. Rayleigh Bug slept all night and went seizure-free! She woke up still hooked up to the IV and on a really slow drip. We poured Rayleigh a bottle of flavored water and she actually sucked it down! We were so thrilled that she was taking the bottle again! She still wasn't drinking a whole lot but the fact that she sucked on it at all was a good sign. Then she had her morning medicine and some breakfast: chicken, pears, apple juice, butter, whipped up cream. She ate every bite just like a big girl!
After breakfast Jessica Holy, Bug's dietitian, stopped in to see how Bug was doing but there were 2 nurses and a girl from labs to draw blood in the room so she said she'd come back by after lunch and talk and steal us to make some meals for the next day.
Not sure if I've mentioned this yet but on the Ketogenic Diet a child's blood sugar level should be around the 60s-70s. If it drops below 45 she gets 1 ounce of apple juice. Her levels have so far been between 50-80 but she did have one time at 6am when they checked and she was right at 45 so they gave her 20ml apple juice and a couple of hours later it was up to 69 so all was well.
Dr. Malik made his rounds before lunchtime and answered any questions we had and said that he was good with us going ahead and getting discharged that day instead of waiting the full 5 days because she was taking to the diet (minus the thrush/almost dehydration) and she was drinking again and we knew what we were doing. He prescribed her 2 weeks worth of nystatin for her thrush but said that since we caught it so early, once we can no longer see the white give it to her for 3 more days and she'll be clear.
Excited with his news we still knew that Jessica had to clear us to discharge that day. While we were waiting to see her again, a diabetic educator came in to show us how to use our own glucometer and it was alot easier to learn that way than when we read our instructions! When we get home we are to check her blood sugar levels once a day for 30 days and her urine ketone levels once a day every day she's on the diet.
After lunch and medicine and Bug's nap Jessica came back around. She told us that as long as Bug is back to sucking on a bottle nipple or sippy cup and we feel comfortable with the diet than she is absolutely fine with us going home that day! So she answered a few quick questions for us like how to change foods in the Ketocalculator (so I can swap some for organic choices) and what kind of butter and whipping cream is best to use. Then I went across the hall with her to make some meals for Friday so that we would have enough until we could get to the grocery store. It was so much easier I was whipping up meals in record time!
Before we knew it it was 5:30p and we were getting prescription forms and packing our cooler with Bug's meals and loading bags on a cart and signing discharge papers and then we were on the road back home :)
It is now Friday evening and she has not had a seizure since Tuesday night, 1:30am. Knocking on wood now but it could be the beginning of something amazing!
