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:

• 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

A Lot of Changes but Not Much has Changed

It has been a very long time since I have posted. So long in fact, that I now have a 2 year old!! Okay, so it's really only been a few weeks but, yes, I have a 2 year old Bug now!

Almost at the end of March we had fully weaned Bug off of Sabril. Her head drops picked back up but for a week that was really the only change we noticed - other than a few sleepness nights to go through! Then a week later we were driving home from the grocery store and I look back at Bug who got very quiet only to see that she was in a full on partial seizure. Body curled in, not moving an inch, face bright red and labored breathing. My heart sank and I immediately pulled into the first place on the side of the road, jumped out of the car and back to my Bug. It was over in about a minute but it sure did feel like an hour.

Her neurologist told us at her last visit that the next medicine she would start would be Vimpat as suggested by the pediatric epileptologist. He said that we would give it a bit of time after weaning the Sabril before starting it but if her seizures picked up or got worse to let him know and we'd start Vimpat earlier.

So as soon as I got Bug safe and home I called the neuro. His nurse put in a note for him to get us the prescription but he had already left the office for the day so it wouldn't be available until the next morning. That same night, she had a second partial seizure, not as long or severe as the one earlier in the day but still noteworthy so we called the on-call neuro and they sent over a "starter" prescription for Vimpat. They could only do this because the neuro put in his notes the dose he would like to start Bug at for the first week on Vimpat so that's all the prescription was for, 1 week of the 1/2 dose prescription. It was enough, the pharmacy was still open and it was in stock so we were able to start it that night.

That was the last partial seizure she's had. Got her up to her full prescription of Vimpat from her neuro a week after starting the medicine. We've got her ketones as high as they will go so that's helping with the drop seizures but she's still having a few clusters of 2-3 a day.

Then this week Bug has had a drop seizure that turns into a 20 second deal where she's smacking her lips and slightly rolling her eyes. Not sure if this is just a worse head drop seizure, something with her infantile spasms or maybe a small partial seizure. She has an EEG coming up on Friday that will give us a little clarification on that, follow up appointment with the neuro the following week.

Bug in her gait trainer (walker) in March, post to come :)

Overdue Update

Well, I thought I'd take a few minutes out of my day to do a quick update on Rayleigh Bug and her diet.

She is 7 weeks seizure free!!

It's so wonderful! I can't help but constantly smile!

Her development is still pretty much the same but she is making improvements. Her neck strength is probably the biggest thing we've noticed in the last couple of weeks. She can also sit for 10-15 seconds independently and sometimes tries to catch herself when she starts falling. We've also noticed that when she's doing tummy time that sometimes she will scoot her bottom up under her like she's starting to get in the crawling position.

She also had an eye appointment with Dr. Mike Siatowski. He's a local neuro-opthomologist and Rayleigh first saw him 6 months ago and he prescribed her glasses and diagnosed her with Cortical Visual Impairment. Basically it means that her eye development is moving much slower than that of a normal child but will improve and work at it over time. So last week Dr. Mike said that she is on a good timeline and he sees minor improvements. He said she's doing well and he expects her to have full vision recovery between 4-6 years. She's goes back in 6 months to do a full examination and dilate her eyes to check her prescription. Oh, and he said that the seizure control could speed up the timeline but it still won't make it an overnight change.

She's doing really well! This week our big challenge is to get her back on routine. She's going back to taking 2 naps a day - 1 after PT and a longer nap in the afternoon. I think that's part of the reason that she doesn't go to bed until 10:30p or later!

Developmental Therapy

Rayleigh Bug is now receiving physical and occupational therapy from 2 different sources. One is a free, local early-intervention program called SoonerStart offered in the state of Oklahoma. The other is Jim Thorpe Rehabilitation Hospital that is located as part of the Baptist medical center where her neurologist and pediatrician are both at.

Bug has been with SoonerStart since she was 7 months old. They are an in-home service that arrive weekly to work with your child on their need (physical, occupational and/or speech) for an hour. You see the same OT/PT/ST each week at the same time so your child is familiar with the person and the routine. Our OT is Stephanie and she is great. Because SoonerStart is offered free and is financed through the state they don't have as many therapists as they need so usually your OT or PT will work as both parts as your child needs. So, as Bug's OT, Stephanie's job is mainly to focus on getting Bug to activate a toy, attend to toys and people, reach for things and things of that nature. But, working both sides of things she also works on getting Bug to sit, crawl and prop. 

We had our first evaluation with Jim Thrope last week and we were pleasantly surprised! We had no idea how well Rayleigh would respond to "working" outside of the home. You see, with Jim Thrope therapy you go to their facility and it all happens in one room on playmats, swings, big toys and more. 

We met Bug's PT, Rachel, the first day and Rayleigh seriously adores her! So this past Thursday was Bug's first day of work :) She did AMAZING for Rachel. They did sitting activities, crawling position, activating and holding toys and rolling activities. 

Jim Thorpe would like to see Rayleigh Bug twice a week and we would love for her to go twice a week. Unfortunately, that is not in the cards for us right now. Jim Thorpe costs us $25 out of pocket each visit (that is after what insurance covers) AND insurance will only cover 20 visits a year. That's not even every other week :( We're feeling a little discouraged that we found this amazing place but aren't able to utilize the full potential of it. Hopefully we'll hear about TEFRA/Medicaid soon and we'll be able to go to Jim Thorpe for Bug as often as they want us and not have to worry about the money part of things!

Oh, and Rayleigh is now saying her MMMMmmmm's which includes her saying "mamama" a few times :) 

1 Week; 2 Appointments

Rayleigh Bug had a fairly busy week this week. Looking back at the calendar there is not one day unmarked... except tomorrow! Maybe a good ol' fashioned morning of relaxing in bed and drinking some coffee? (Bug will of course have milk!)

Tuesday was Bug's 15 month well-child visit with her pediatrician. She is 21.2 lbs and 29" long. Getting big! Still in the 25% but she's still on her same curve so she's perfectly fine!

When her pediatrician was checking on her he found an ear infection in her right ear that we had no idea she had! She hasn't been showing any signs of discomfort, couching or tugging at her ear! Our first thought was, maybe this could explain the sudden cause for increased seizure activity!

Then we talked with the pediatrician about her diet. Because Bug is developmentally behind she is not finger feeding yet. She is currently eating level 3 jarred foods, sometimes 2 level 2 jars. She also eats mashed up food or small bites of banana or other fruits like peaches or plums. But because she isn't eating a huge variety and isn't on a toddler formula (just organic whole milk) her pediatrician recommeded going to Akin's and getting an organic multi-vitamin that contains iron. So that's exactly what we did.

He also prescribed Ammoxocillian that we picked up that evening.

She got her chicken pox shot and goes back in a couple weeks to get her Hep A shot and for her pediatrician to check on her ear.

Then today, we saw her pediatric neurologist for a routine check up. This is the last time we will visit with him in person before she goes to Cook Children's Hospital for the Ketogenic Diet. We went over several medicine choices and discussed why she isn't trying them. Here's the breakdown.

Depakote: She's too young. Ped. neuros generally don't give this to kids under 2 because they are at a much higher risks for the liver problems that are a known side effect of Depakote. Also, she would need to be checked for mitochondrial diseases before starting this medicine because it can have adverse reactions if she has a mitochondrial disease.

Lamictal: Her ped. neuro isn't against Rayleigh trying this one now that she's a little older but she's still at risk for the rashes associated with side effects and how it affects her sodium levels. This medicine has a very long weaning onto process so we don't have time to try it and see if it works by the time we start the Ketogenic Diet and he (and I) believe the diet has a better chance than another medicine right now.

Vimpat: This is a very new medicine and doctors don't know a whole lot about it yet. There haven't been enough children on it for a long enough period of time to know how it affects a growing, maturning brain like Rayleigh's. It is a medicine to consider and we are going to talk to the epileptologist at Cook Children's about it when we go down for the Keto Diet.

Dilantin: This could control her type of seizures, being partial onset seizures. But generally, ped. neuros do not like giving it to children under 3 years old. Being on Dilantin for long periods of time can cause hairiness and teeth & gums problems. Also, the body grows a tolerancy for this medicine over time so the dose would have to be increased frequently for most cases.

So other than that we discussed her ear infection and as soon as we brought it up her ped. neuro said, "I wonder if that is the cause for her having 2 seizures a day recently?" Exactly what we were thinking.

Yesterday was her last day on Topomax and her ped. neuro says it will be out of her system by Monday so if she is still having 2 seizures a day after Monday then we are going to start her back on Keppra, 2ml twice a day. She's been on Keppra before but never in combination with Clobazam and/or Trileptal. Her ped. neuro said that it controls from a different area than the other 2 so we might be able to gain control until the Keto Diet by having 3 medicines that attack from 3 different areas. Again... we'll see...

When we go down to Cook Children's we are supposed to ask her epileptologist about doing a muscle biopsy and bloodwork (POLG1) to check for mitochondrial diseases and when he might think they should be done and we will also discuss more about the Vimpat medicine.

End of Month Update

I hadn't realized that it has been so long since my last post.

Rayleigh is now taking 1/2 pill of Clobazam in the morning and 10ml of Phenobarbital at nighttime + 1 full pill of Clobazam.

She has been on this Clobazam dose for about 3 weeks. We are seeing a decrease in seizure activity but not as much of control as we would have expected by this time. Bug is having 1 seizure every 2-3 days now. The past couple weeks she went 3 days with a seizure each day, 3 days with no seizure, 2 days with a seizure each day, 2 days without, and then she had a seizure today at naptime. There seems to be no pattern and no explanation.

We have called Dr. Coleman's office and left a message to see if there is any blood test that he can order (or have Dr. Hernandez from Cook Children's Hospital order) to check her Clobazam levels. Rayleigh is growing like a weed so we need to find a way to keep on top of her Clobazam dose increase.

If we can get them better controlled soon we will be looking into the Ketogenic Diet.

On the plus side, Bug is making excellent progress in her development. She is using her eyes much more and getting really good and watching what we put in her hands and tracking us. She is still not sitting independently yet but she is getting closer. She is, however, standing at a table or the couch all by herself!

New Dose of Clobazam

The last blog post left off when Bug starting having seizures each day again. She was having one seizure a day. They were becoming unsettlingly routine; every day about 15 minutes into her first nap long nap of the day.

Though the seizures remained fairly mild, we worried every day that they would get more intense and start to become painful to her.

Over 2 weeks ago we spoke with Dr. Coleman and he reinstated that he really did not believe the dose decrease of Phenobarbital by 1ml a night would cause such a drastic breakthough and so quickly affect her seizures. He said that if the Phenobarb decrease was the culprit that the seizures wouldn't start back for a few days after the first lower dose and they would start gradually, not daily at first.

Dr. Coleman suggested we call Dr. Hernandez (Rayleigh's epileptologist at Cook Children's Hospital) to see if it is time to raise the dose of her Clobazam. Clobazam is the pill form anti-convulsant medicine that we receive through Canada because it is not yet FDA approved.

We left a message with Dr. Hernandez's office about Bug's current weight and seizure situation and they called back that same day saying that Dr. Hernandez has changed her prescription on Clobazam to 1/2 pill in the morning and 1 full pill at night. This is based on her weight gain since the initial dose of 1/2 pill twice a day.

We started that dose that night. It has now been 2 weeks. She has been 2 days seizure free. We think that we will see a gradual decrease in seizure activity from this new dose of Clobazam much like when we first started the medicine. In the beginning of Clobazam it took her seizures down to 1 every other day, then 1 every few days, then 1 in 4 days and then they went away all together for several days at a time, until she had her breakthrough... most likely from her weight gain outgrowing the Clobazam dose.

We will have to continue waiting to see if this new dose is the key. Michael and I would still really like to get Bug weaned off Phenobarb completely to see if her developmental delays improve. Hopefully that is in the cards for her soon.

High Hopes

This month has been a major roller coaster for our family. Rayleigh had a seizure on New Years Eve, December 31st, around 7pm that lasted about 40 seconds. It looked like her usual seizure: face reddened, arms locked up and pulled into body, legs locked up and curled in, labored breathing and then her deep release sigh and some myoclonic jerks as she was coming out of the seizure. It was intense and awful.

Then we started to notice her going several days without a single seizure. In December Rayleigh was having 1 seizure every 2-3 days. In the months prior to that she was having 1 seizure every day, maybe even 2 seizures a day but then late November she started the Clobazam anti-convulsant medicine. So starting January 1, 2011 Rayleigh went a full week without a seizure, then it was 8 days, 9 days, 10, 11, 12 days. 12 days with no seizure. Rayleigh was more alert and in a better mood all around. Michael and I were less stressed during naptime and when she would wake up.

Then around January 12th Rayleigh and I got sick. We were both running fevers and feeling awful. On that night Rayleigh got practically no sleep and ended up having a seizure around 2:30am. The seizure was very small and short and Rayleigh didn't seem to be in any pain from it. We were upset that she had a seizure because a small part of Michael and I had thought she was outgrowing them but at the same time we knew it was likely. Dr. Coleman, Rayleigh's pediatric neurologist, had told us before that anytime she is stressed, sick or sleep deprived she is more likely to have a seizure than other times.

Then she went a few more days without a seizure. By January 19th she had only had the 1 seizure. Michael and I were ecstatic. We were sharing the news with everyone, "Rayleigh has only had 1 seizure in 19 days!"

Maybe we jinxed it.

On January 20th we had a regular checkup with Dr. Coleman. We told him the news and asked about weaning Rayleigh off the Phenobarbital to see if the Clobazam was doing all the work. Phenobarbital has a lot of side effects that we think are affecting Rayleigh's development and would love to have her off Phenobarb completely. Dr. Coleman thought the request was more than reasonable and said to wean her off slowly, 1ml less each week. Rayleigh was on 12ml a night at that point so that night we took her down to 11ml.

She takes her medicine each night around 8:30pm.

At 11:30pm that night Rayleigh had been asleep in her bed for 15 minutes. I went in there to adjust the monitor before going to sleep myself and saw that Rayleigh was waking up. I bent over to give her the plug-plug (pacifier) and she went into a seizure. My heart stopped. I grabbed her hands to make sure that she didn't scratch her face and called to Michael.

It was not very intense like her old ones were. She didn't make any noise going into it, her face didn't really redden too much, arms and legs locked up and curled into body, the whole thing only lasted 20-25 seconds though. We brought Rayleigh into bed with us and she fell asleep shortly after. No whimpering or crying at all and didn't appear sore.

Michael and I were shocked. Is this from the dose decrease? Would we really see results that fast? Was she sleep deprived today? Was she stressed? What brought on this seizure?

The next day at 1:30p Rayleigh took a nap so I had her in the same room with me so that I could watch her. With how quiet the one the night before was I knew that I wouldn't have known she had one if I wasn't in her room at the right time so I wasn't going to have her sleep out of my sight. Sadly, she woke up and had a seizure about 5-10 minutes into her nap. It was identical to the one the night before and she went to sleep right after. I called Michael to let him know and he called Dr. Coleman.

Dr. Coleman told us that he can't really verify what's bringing them back on all of a sudden and doubts that the medicine dose decrease would affect Rayleigh so drastically so quickly. He told us to keep an eye on her and let him know if she continues to have them throughout this week and if so we'll increase her dose back to 12ml and see if that controls them again. Rayleigh has also gained a few pounds in the last couple of weeks so maybe she was outgrowing the dose of Phenobarb as we decreased the dose and it was just too much at once.

We will be taking her to get her blood drawn for Phenobarbital level testing this week to see if she is still in the normal range.

Rayleigh had one again this afternoon during naptime.

We went from 1 every 2-3 days to 1 in 19 days and now daily. We are feeling discouraged but are working hard to get her seizures controlled again.

Plageocephaly

Every doctor that Rayleigh has seen since she was about 3 months old has noted her plageocephaly. Plageocephaly is a flat spot on the skull. Rayleigh would never do tummy time for us and slept on her back at all times up until she turned 6 months old to prevent SIDS.

During her awake time we would try to keep her off her back but that was her favorite way to look around. When we would put her on her tummy she would scream and throw a fit until she would be back on her back. She learned to roll over very quickly so that she could get out of tummy time on her own. Once that started, we would have to turn to the Bumbo chair or have her sit on our lap to keep her from laying on her back. But still having her sleep on her back all the time gave her a flat spot on the back of her head, on the right side more than the left.

Dr. Albeik and Dr. Coleman both suggested we go to Hanger and get her a helmet to round out her head. You have to provide Hanger with a written prescription so Dr. Coleman faxed them one that day.

A helmet for plageocephaly is not covered by most insurances. Plageocephaly is considered completely cosmetic because there have been no researches done proving that having a flat spot causes any developmental delays or health issues in life. Plus our insurance is probably still upset about Bug's $38,000+ hospital bill from Cook Children's Hospital!

We went for her first appointment in November to make sure that she would be a candidate and get her measured. Jennifer is Bug's certified orthotist and did the measuring. She said that she is definitely a candidate but that her flat spot is really not severe. So much so that she has virtually no displacement on her face from the flat spot on the back. You can see examples of that if you look up images of plageocephaly on Google.

We went in for a followup appointment to get Rayleigh's head measured and scanned for the helmet. Jennifer put a little box on the top of Rayleigh's head and put a pantyhose sock over her head like a shower cap and used a scanner (like the ones used in retail stores) and clicked-and-dragged over Rayleigh's head in every angle. Then an image of Rayleigh's head popped up on the computer screen and looking from an eagle-eye view you can see the flat area on her head. Jennifer sent the image in to have the helmet made and we picked a fabulous leopard print for the helmet to be done in. From here, you have 2 weeks to decide if you are sure you want to get the helmet and when you are you call and give them the OK.

Michael and I debated whether we should get the helmet or not for about 3-4 days. The helmet costs $1,500 and we are already swimming in hospital bills. But we really don't want to give anyone down the road further reason to make fun of our beautiful baby girl! Plus we're always hoping that there is some miracle that rounding out her head will stop her seizures or at least help her development. Not likely, but it would be awesome...

Anyways, so we obviously decided to go ahead and get the helmet. I went and picked it up a couple of weeks later and it fits great. The way it works is that where her head is already rounded the helmet will touch the skin and it will hollow space between her flat spot and where the helmet is. It allows the skull to grow to its environment.

Rayleigh hates the process of taking it off and putting it on but once it's on she's just fine with it, thankfully!

At the 1-week checkup Jennifer said that Rayleigh is looking good, no red spots or anything like that. She also told me that because Rayleigh is small for her age (25th percentile) and her head is still pretty soft that she doesn't see Rayleigh wearing it as long as the average 8-9 months. We're shooting for 4-5! She has to wear it for 23 hours a day but she can take it off for special occasions as long as we keep her off her back during the time it's off.

It's only been a couple of weeks but Michael and I can already tell a big difference! Maybe she'll just hit a growth spurt quickly so her head will round out from it and she won't have to wear it long at all!

Weekly Physical Therapist

Because Rayleigh qualifies for SoonerStart in her motor skills we opted to have one of their physical therapists come and work with Rayleigh once a week until she is 3 years old or until she catches up.

We got paired with Stephanie from Oklahoma County SoonerStart. She is awesome. I get along with her really well but, more importantly, she is great with Rayleigh and very patient. We set a goal of having Rayleigh crawl by November 2011 and pay more attention to toys presented to her.

Our current exercise that we work on is getting Rayleigh to sit alone. Rayleigh will sit completely unassisted for about 5-25 seconds but then once she realizes what she's doing, she arches her back to get out of the sitting position. This is something that we've had a hard time getting Rayleigh to stop. Anytime we do her sitting activities she will fuss and arch her back to try and stop us.

We've been working with Stephanie for almost 6 weeks now. She has shown us so many new ways to work with Rayleigh on sitting by herself that we never would have thought of. Along with sitting, we are working to get Rayleigh Bug to use her hands and arms to prop herself up. This helps her learn to sit on her own and is great for doing tummy time also. One thing that little Bug enjoys as far as propping goes is to get one of the couch cushions down on the ground and have Bug kneel over it. Knees on the ground, belly on the side of the cushion and chest/arms on the top. Then we just put a musical or light-up toy in front of her and she props herself right up to check it out.

We definitely see the potential in Rayleigh but we were really hoping she'd be sitting by Christmas. Who knows, there's still 2 days, maybe she'll pick it up as a Christmas present to everyone including herself!