"Where's the Beep?"

We now have two pumps in the family. An insulin pump and a feeding tube pump. Both beep at various times and sometimes even at the same time.  I find myself saying quite often, "Is that you or Keira beeping Kailyn?"  If Kailyn beeps, it could be because she is doing various things with her pump. Whether it be testing, bolusing, eating,  has a low reservoir or low battery.
If Keira beeps, it is usually because she has no formula left or has a kink in her tubing. Kinks in her tubing are the most annoying part of the whole thing right now. We are SOOO happy she is not having seizures with eating and drinking anymore, but she moves around a lot and by the end of the day the tubing is quite a mess and she beeps constantly. I even showed Kailyn how to pause, untangle and restart so I don't have to get up so much. LOL  Hopefully we can move on to bolusing during the day soon so she can roam free.  She is supposed to wear her cute little back pack on her, but it is about a 3rd of her weight, so instead I just let her drag it when she doing her little army crawl. I need to get a picture or video. It is so cute. :)

Keira Got a G-tube For Her 1st Birthday.

She turned 1 on the 19th and had the surgery the next day. Isn't that what every little baby wishes for? ;)   Well, her parents did because she had not gained weight in 6 months and was slowly falling off the charts in weight. She was in danger of aspirating on her food/formula and was almost always having seizures while eating. She would eat just enough to keep her body satisfied. The minute she had enough she refused to eat. This was all documented on the Video EEG done at  Children's Hospital Boston. We were fortunate enough to have had the surgery moved and done even sooner in Maine. He did a Mitochondrial biopsy at the same time. Now, we are trying to get 960 calories a day into her body to plump her up. This will be done with a continuous 24 hour feed going into her stomach.  They say it won't be like this forever and we can work up to bolusing meals or just doing the continuous feeds at night, but for now, she has to have a cute little back pack follow her around.  She does not have the strength yet to actually wear the backpack, but hopefully when she is fully recovered she will.  If not, I will be following her around with the bag while she is awake. I also imagine her dragging it when I am not looking.

Her recovery in the hospital was uneventful and the Doctors commented to her frequently, "Don't you know you just had major surgery?" :)   She did have her painful moments that I had to rock her through, but I think the worst part for her was not being able to get on the floor and play. The feeding tube is long and sticks out of her stomach at this point. (for the g-tube unsavy people like me) I had no idea what it would look like, but for now we plug the feeding bag (that sort of sounds like she's a horse lol) into a tube that come about 3 feet out of her body. We also give her the medicine that way through a port. On Wednesday the big reveal happens. We still do not know what it looks like under her bandages.  She smells like Vanilla Pediasure because we can't give her a bath.

Once we got home we did have to troubleshoot medication and she did throw up quite a bit the first night.  They were giving us Depakene in the hospital, which dissolved well in water, but Depakote does not.  So we tried to feed her the Depakote sprinkles and it set off a reaction of throwing up 4 times, with the last being at 5am.  I crushed up her Depakote as well as I could with a herb crushing bowl and gave her some (not quite sure how much though) through the medicine port.  If we could not get the medicine in we would have to bring her to the ER and THAT was not happening!! (unless I think I am dying I seriously will not go there) In the meantime, the Neurologist on call called in Depakene in liquid form for her to take from now on. It's not exactly "the same", but it is controlling her seizures along with the Zonisamide.  She threw up yesterday when an unnamed person (not me) carried her up to her room by her stomach.  We are slowly titrating her up to the 40 calories per hour that they want her to be on so she does not throw up. Once she is tolerating that we will do little bites of food for taste. Little bites do not cause seizures and we want those taste buds to develop.

Here are some pictures of pre-surgery, post-op and recovery.  We barely have to give her Tylenol now.  She never cries and does not seem to be in pain.  She does get tired quickly, but we are 4 days out and I expect that to get better.

Pre-surgery on Wednesday with Nanie

 Post-Op

Starting to take off her No-No in recovery

 Playing in her hospital room a few hours after surgery

 She finally crashed

But woke up and found a cord to play with

 Puffy face the next morning.(Thursday) Apparently, it is from all the fluid they give them in surgery.

 Taking a nap with the G-tube finally hooked up on Friday

Finally at home again on Friday, sleeping in her car seat. Must have felt comfy in there. It was her first good nap in a while.  She still has 2 inches and 14 pounds before she outgrows it. :)

 At home the next day playing. Do you see the tube taped to her back so she can't get to it? :)

The tube goes all the way to this cute little back pack that has the pump and the bag with the Pediasure in it. The pump only lasts 4 hours without charging it.

 Tube to back pack picture

 Playing with a cord that is not a feeding tube to give us a break from telling her not to touch the other one. Hey, you have to pick and choose your battles. :)

 Just Playing

 Keira this morning. (Sunday Oct 24th)

playing with her favorite toy. Our Sweet Angel.

I got my second wind (as usual) so here is an update.

We went down to Boston yesterday and the Epilepsy specialist (I know there is a specific way of saying it, but I can't say it right) lol  is being very aggressive with her treatment.  He does not know what is going on, but has ordered every test under the sun to try and figure it out.  We got the Lab work done last. After our visit to the GI. One test came back really high and that was ammonia.  (The genetic testing will take longer) He called our primary care Doctor early today and asked that we have that level rechecked to make sure it was accurate. This assured me that he was on top of things.  We have had to beg for results from the other Neurologist, so this was a nice change.  The high ammonia levels could be from the tourniquet, her being sick (which she is not visibly sick, but both siblings have colds) or the Depakote.

She also has an appointment to have surgery to put the GI tube in next Friday morning. He rushed us right down for an emergency appointment with GI. We got scheduled with the nurse practitioner, but she had the Doctor and nurse educator come in because she needs to get the surgery right away. She is not getting enough nourishment and it is VERY dangerous to eat while having myoclonic seizures. This is the first we have heard about this. Probably because what is happening is very rare and even the expert Doctor with years of experience has not seen this many times. (if ever?) We go down to Boston next Thursday for a pre-op appointment and have a hotel room reserved within walking/shuttle distance to the hospital for 3 nights.

I went with her today and got her developmentally assessed privately. They said she is at a 9 month old level and we will start services, for speech/OT and PT within a month after the GI tube is placed, healed and things have settled down.  CDS has drastically cut services AND many providers won't take CDS kids anymore (because the State is not paying anyone and when they do it is way less than insurance) so it is better just to go through our insurance. The good thing is that she has been doing some of the things she had lost again over the last 5 days. Hopefully that continues.  I wonder if it has to do to the Depakote and ammonia.  We decreased the Depakote and she got some skills back?? hmm.....  Our goal is to get her back to where she should be and make sure no more regression happens.   After the developmental assessment we had to go and get her blood drawn again  to check med levels and the ammonia. Poor baby had lots of blood taken from her over the course of two days. Lucky me gets to hold her while she screams and cries through it. (sarcasm) 

Our insurance approved the Specialist in Boston for 6 visits this year so he will be our primary until she gets all straightened out.  We will move the GI stuff up here since we will have to go to a feeding clinic often etc...
I am happy we are moving in the right direction, scared about the surgery (I don't want to see my baby in pain, but I want her to get nourished properly and not aspirate on food) Hoping for uneventful test results. It sort of feels like the Type 1 Diabetes thing again except we get to prep for it. 

Thank God for Scrapbooking club and Kindercamp.  Kailyn was convinced she was too sick to go to school and was fighting with us tooth and nail about not going until I reminded her she would miss her first Scrapbooking club meeting. She stopped the screaming and crying and off to school she went.  Sam LOVES kindercamp so it is very easy to get him out the door.   It also allows me to go to these appointments sans Sam. lol

Keira is still the happy, bubbly, easy going baby that she always has been.  Everyone tells me she should be a baby model and my reply is "We don't have time for that". I'm not sure if they tell all the babies about to get their blood painfully taken from a stranger how pretty they are? I am starting to think they might because it happens so often. lol She was saying Momma again a few days ago (babbling), Dadda constantly and waves and says hi inconsistently again.  If I have her trapped in her car seat I can get her to give me high fives sometimes and she gave me a "so big" once.  Her brain knows what these things are and she wants to do them, but her body won't let her.  She even shakes her head no if she does not want to try.

I am exhausted, but I still have energy to move the sun and the moon for my kids.

We Went to Pumpkinland Today

It was COLD with the wind whipping around and we were on the side of a hill that was wide open with no where to hide from it.  The views of the foliage were beautiful. The kids had a blast and made sure that we did everything.  I had fun watching them filled with excitement.  Keira got to get out when we ate and when we were in the munchkin corn maze. The wind whipped the corn stalks around, but created a wonderful escape from it. We stayed for 3 hours and had to keep our little peanut hidden in her car seat carrier because of the wind. I would have brought her bunting if I had known. She slept for a majority of the time. Here they are having a ton of FUN!!!

Our Visit to Children's Hospital Boston: Synopsis and Questions.

Keira's current diagnosis:
Infantile Myoclonic Epilepsy

She has a sister with Type 1 Diabetes (age 8) dx two years ago who has history of reflex anoxic seizures and a brother with a dx of Autism (age 6) 3 yrs ago. He is doing very well and in a typical classroom without supports. (Title one for Math and Reading)


Keira's first symptoms started around June 5, 2010, when she got her first cold with a slight fever. She did not have a febrile seizure, it looked more like a startle response. The Pediatric MD assured us that it was a startle response at the time. It would happen with different sounds, when she looked at different lighting and then evolved into being spontaneous in clusters of 3 with her eyes rolling to the right side for no apparent reason at all. It also started to happen when she was drinking. At that point she was 7.5 months old and had started on chunky solid foods with no problems.

This is when we got concerned and called the Ped MD again (July 13, 2010). She had us come in and confirmed that they were, in fact, seizures (because she saw them herself) and called one of the Neurologists on staff at Maine Med so she could get an EEG ASAP. That would not happen until three PM the next day.

She had her first one hour VEEG and MRI at almost 9 months old on July 14, 2010 and was diagnosed with Benign Myoclonic Infantile Epilepsy(which meant she would outgrow it with no permanent damage). She had an MRI on July 15, 2010 that came back completely normal. At that point, she was not only meeting her milestones, but was ahead of them in the communication areas. She did not show the EEG pattern for Infantile Spasms (hypsarrhythmia). She was having the seizures anywhere from 80-100 times a day. We were advised that we should put her on meds because she was having them so frequently, so we did. She started on Keppra on July 15, 2010.

Keppra only reduced the seizures in half. She was then taken off of Keppra after a couple of weeks and put on Depakote, which reduced them to 10-20 a day, most of them happening when she ate/drank, when sleepy, and riding in the car. She at one time started to refuse the bottle and was down to 5 ozs of formula a day. We got her back up to taking a reasonable amount because we forced her to drink through the seizures using a bigger nipple and cutting more holes in them (12-15 ozs a day). The Depakote was then increased on August 24, 2010, when her therapeutic blood levels were tested and she was still only at 83. Optimal levels are between 50-100. After this increase we still saw no reduction from the 10-20 seizures a day and she was almost always having them when eating/drinking, sleepy and riding in the car backwards. Then around Sept 15th we realized that she was not meeting milestones and was even losing skills she had already mastered.

She used to do these things easily and can no longer :

Give us high fives. Clap and say "YAY". When you asked her how big is Keira, raised her hands for "SO BIG". Wave hi and bye bye easily (we have it on tape). Use her hand to sing a Native American song. Eat foods that were chunky, holding the foods and putting foods in her mouth with a pincher grasp. Say Momma (looking at me) Dada and Hi appropriately. She started to give a few sporatic high fives and make the momma, dada and hi sounds again as of (Oct 9, 2010), but it does not come easily to her.

Keira can:

Respond to her name. Laugh, giggle, and smile when people are playing with her. She screams sometimes to either hear her own voice, get what she wants or to try and fit into our noisy, chaotic house. Shakes her head No. She shakes her head no regularly because she does not want to eat. She knows it will trigger a seizure. Gets up to a sitting position and down from one. She does an army crawl. Has a pincher grasp, but won't put things in her mouth to eat in fear of a seizure. She will chomp on things that are not food, but not swallow. Bangs toys together. Picks up utensils. Crosses the mid line with objects and transfers an object from one hand into the other. She gives (cave) kisses when you put her right up to your cheek. Likes to read books. Likes to play with toys/experiment. Her fine motor skills might be right on track and she does have sensory issues. Hates baths, being touched, etc.(we have an evaluation for this coming up soon)

Keira has had a hard time with:

Since birth she would not apply pressure on her legs and would fold them up so we could not try and make her stand. We now make her stand and she curls her feet up most of the time, but yesterday she did it without crying or curling her feet up for the first time (Oct 7, 2010). 12 days from 12 months old. It is not a preferred activity, but we do it every day.

When presented with a new object she sometimes hovers her hand over it for a long time. It seems like she knows what to do, but her brain won't let her hand move. Once she gets into it she has no problems banging around etc.

Keira has never fed herself with a sippy cup or a bottle. She can hold them, but won't do it.

She has regressed to eating only stage 2 foods and formula from a bottle.

She does not use gestures, one after another, to get needs met, like giving, showing, waving, and pointing. She does reach for what she wants. She does not play peek-a-boo, patty cake, or other social games. Make sounds like "ma," "ba," "na," "da," and "ga" on a regular basis. (sporadic ma, da and ha sounds) Sometimes you can catch her saying Momma, but it has no meaning anymore like it did when she was looking at me and saying it and it is not on a regular basis.

After the realization that she was not meeting milestones and that she was having seizures almost always whenever sleepy, riding in the car, eating and drinking we rushed her down to the ER at Children's Hospital in Boston September 17, 2010. These seizures can last anywhere from seconds to three minutes in length now. The longest ones are when she is eating. She also tightens up and curls her toes whenever drinking a bottle. I had mentioned the loss of skills and eating problems with the Neuro in Maine, but he replied with an unhelpful, "Huh, that is strange." Children's Hospital Boston saw the seizures on video and in person and admitted her to do another longer VEEG. The first MD said they would do the VEEG for 24 hours and that they would check her Depakote levels to see if there was room for an increase and come up with some new meds based on the VEEG.

The second MD said that the VEEG showed the Myoclonic pattern, but was non-committal about identifying the seizures as myoclonic and said that they could also be clonic. He said that she looked like she was having reflex seizures and to talk to our MD and Dr. Expert (at Children's). We were scheduled to see Dr. Expert in Nov (that was in Sept) and this MD wanted us to see what Dr. Expert had to say about what meds she should try. He never checked her Depakote levels and did not want to step on anyone's toes. We wanted to make sure she was not having Infantile Spasms, but on the other hand were disappointed that he did not check her thoroughly--he never touched her. Especially, since we were talking about our daughter's developing brain and our difficulty in keeping her properly nourished. He did mention that she could still have developmental delays with myoclonic seizures and doubted that the Depakote was the problem.

We went back to Maine and called her Neurologist promptly on Monday Sept 20, 2010 as directed. After 2 days and 3 calls he called back and I had him look at the video of her seizing and he ordered an immediate increase of Depakote (without checking her levels). After 7 days with no change he ordered blood work checking her levels and other blood counts. Her Depakote level was 150, 50 levels higher than it should be. He ordered us to take her down to the first level of Depakote because the seizures never got better with the increases and started her on a new med called Zonisamide. After 3 days on the Z med she physically could not move. I called the Neuro again on October 1, 2010 in a panic and he had us decrease it in half to titrate her up even slower. She started to move again, her seizures when being tired have reduced, but otherwise we have not seen any improvement in her seizure activity. Some days we think we do and then the next day slaps us back in the face with even more seizures. Sometimes I feel like I can snap her out of the seizures and other times not. I never can when she is eating, drinking, or in the car. Just when she has spontaneous ones from being tired.

Our questions for the Epilepsy MD:

Are you 100% sure the diagnosis is correct and if it is not, what could it potentially be?

Should she have other testing done to see what is going on?

Such as, PET, (Blood Testing) Metabolic and any other type of disorders that cause seizures?

What do her toes curling while drinking and seizing mean?

I read that seizures with eating are typically focal motor seizures and are symptomatic?

Is she on the right medications?

What are her percentiles today for height and weight?

If eating epilepsy is treatment resistant (which I have read), should we put her on a feeding tube to make sure she is getting the right amount of nourishment and does not have to force herself to have seizures? This way we can avoid more medication that may be causing developmental delays? We are very concerned with the eating/seizure component and it causing her to not gain weight.

I have the G20210A prothrombin gene mutation. Could she have something similar to this causing her problems?

The diagnosis for infantile spasms can be made even if one of the 3 elements is missing (according to the international classification). She does not have hypsarrhythmia, but has the other components? Does Boston not follow this classification and only rely on the H pattern?

Do you feel comfortable working with our Neurologist in ME and if not is there someone you can recommended to us?

Our appointment is Tuesday at 10:30 in Boston with the Child Epilepsy Specialist

I have not decided if I am going to give this to the specialist. If I do I will have to do some rewording. ;)

Interesting Fact

Kailyn had Reflex anoxic seizures all the way up until she was around 4 years old. She would get so upset she would lose her breath and faint. One time she got scared in a pool and did this. It scared everyone around her to death that she had drowned.
We had no idea that was what it was called back then, but were reassured it was completely normal. We were told not to worry because she would grow out of it and she did. I came across the name for it when researching for Keira. It's not Epilepsy, but interesting because it is a reflex seizure.

Cheerleading

Was a hit
There were at least over 50 girls there.
She was still begging to show me the cheers she had learned as she walked up the stairs to bed.
Gorham does not have any teams for her age and they are thinking
of making one next year and she was begging me about it.
So watch out everyone!! She will want to cheer for you and has two weeks
until the next practice to get those cheers down!! 
She is recovering from a sinus infection (when Kailyn is miserable, we all get to be) and her blood glucose numbers have been really high.  They are doing testing at school, which she does not seem to mind, but I am curious how she does when she is high and producing trace amounts of ketones. In the past she has not done well at all.

I cut Sam's hair again today. It came out ok as usual (lol) and we need to buy scissors so I can fix it up before picture day next week.;)  I figured out that he is actually learning in school.
He has memorized some sight words. So YAY for learning.  He misses some work when he is pulled out for Title One for Math and Reading, but I do it with him at home.   He loves spelling words on his buzz lightyear game every night before bed after we read. I hope it is helping him with letter recognition.  It will be interesting to see where he stands when we go to conferences at the end of this month. If he is way behind we will be requesting testing for Special Education. He still has is Autism dx.

Keira did three things today that made me feel so much better and melted my heart.  She gave me one of her sloppy kisses again (my Mom calls them cave kisses) AND a high five.  Her motor planning is definitely off, but it IS there. She can not consistently give high fives, but she knows how to do it and can when her body will let her.  I know that she understands what I say, but it seems like her body can't do it. Sometimes she even shakes her head no (like no, I am not doing it or can't do it) She was also army crawling all over the place today.  Something I have not seen in over a week.  All of this despite the fact that she has a miserable cold.  Her seizures have disappeared when she is drowsy/sleepy, which is also a change from last week.  So sort of progress. As a friend has said "deep breaths".  She has appointments for independent evaluations for speech, OT and PT with CDS and a private therapy group for this month and for a feeding clinic at Maine Med. This all happened today. This on top of her big appointment next Tuesday. Can you say "head spinning"? 

Seth wonders why I am always so tired at night. I really don't like giving him a play by play of my day and we just talk about highlights or whatever else is on our minds.  When he asks again I think I will ask him to look at my blog. (I don't think he ever has) Maybe he will get it then?? ;)

Organization for Keira's Epilepsy Journey

Referral to Doctor in Boston in place.........check   (insurance is covering 100% even though out of network, but we had to get prior approval. Our Ped had to write a letter to the insurance company)

All medical records at the Dr.'s in Boston ...........check

Referral to the Storey-Smith Clinic for a full OT-PT and Speech eval.........check

Referral to Child Developmental services..............check

Referral and appointment for a feeding clinic at Maine Med.........check

Researching things that might be causing the seizures and making note........... check

Still need to:

Write all questions down for Dr. Expert.

Get copies of studies that discuss things similar to what is going on with Keira.

Figure out how to get food into the babies body so she can get some meat on her bones.  She is too skinny.
I am guessing 97th for height and 5th for weight.

Good note:

Insurance covered almost all of the $3500 one day stay at Children's Hospital Boston even though it is out of network. That was good news for the day.

Keira's seizures are always triggered by eating and drinking now.

The were just spontaneous (occurring without any triggers), but this is where they are at now. This is part of a study I found and I am putting it here so I can decipher it.

"Seizures induced by eating are characterized by seizures closely related to one or several aspects of eating. The clinical triggers of a seizure are usually stereotyped for each patient, but patients may have some points in common. Rare patients have seizures at the sight or smell of food; others may have them immediately after a heavy meal, suggesting gastric distension as a trigger (Gastaut and Poirier 1964). Seizures with eating are typically focal motor seizures, with or without auras or automatisms of temporolimbic type, and are almost always related to symptomatic epilepsy. Seizures induced by eating are usually associated with localized or regional EEG epileptiform activity either from temporolimbic structures or from suprasylvian regions in association with larger lesions. EEG epileptiform activity that is generalized from the start is rare.

Rémillard and associates suggested that patients with temporolimbic seizures activated by eating have fewer spontaneous attacks and are more likely to have such attacks from the onset of their epilepsy than are patients with extralimbic, usually suprasylvian, seizure onset who have less constant activation by eating. Patients with suprasylvian seizure onset usually have more obvious extratemporal structural lesions and possible activation by specific thalamocortical afferents (Remillard et al 1998). They may also have seizures with other forms of buccal stimulation such as tooth-brushing or kissing. Koutroumanidis and colleagues reported a case of adult-onset sensitivity to toothbrushing only, with normal imaging and interictal left frontal epileptiform activity, and suggested that this was cryptogenic reflex epilepsy (Koutroumanidis et al 2001). A prevalence of approximately 1 per 1000 to 2000 epileptic patients has been reported (Vizioli 1962; Nagaraja and Chand 1984). The unusually high figures reported for Sri Lanka seem related to an idiosyncratic definition and to ascertainment methods (Senanayake 1990)."

Seizures with eating are typically focal motor seizures, with or without auras or automatisms of temporolimbic type, and are almost always related to symptomatic epilepsy.