One of those normal beautiful fall days (at least for us)

When the kids play outside while your Mother in law (Thanks Grammie) rakes the leaves in your yard because your husband is on call and was up all night.  He did help, but looked like he was going to fall over doing so.

When you are still staining the deck because it is a project you did not realize would take so long. I have one side to go and it WILL get done tomorrow. Along with the raking as long as Seth does not get called out again.

When your baby crawls around in the leaves with delight. Exploring the world of fall that she has not gotten to do before because she just started to crawl and pull up to her knees on to things. This all started once she got the G-Tube.

When your kids talk your head off non stop about what they are going to name their horse when they get one. Blue Jeans like Hannah Montana (of course) I did not listen to all of the details. I probably owe her a horse knowing Kailyn. She works out deals with me and I am not fully listening all the time. She Does. Not. Stop. Talking.

When you send your 12 month old inside to get her 100 calorie G-Tube feed at 3 so she does not lose energy and she protests. (a good thing)

When you send your 8 year old Type 1 Diabetic in to get her Insulin Pump infusion set changed because it has been 2 days and it has to be done every two days.

When it is overly warm for fall and you feel good doing the mundane task of staining the deck in the sun because you can drown the sounds of the world out (whining kids) with your ipod music.

When your husband makes Trader Joe's pizza for dinner and it tastes soooo good. Especially the Buffalo chicken one.  I need to put that on the must buy every time list. ;)

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. ;)

Good News All Around Today

Kailyn seems to be doing really well in school.  Her teacher said that she was a nice girl. She consistently comes home with 3's and 4's on her papers (A's and A+'s), except for spelling, but she has excepted that it is not her strong subject and she will do her best and feel good about that.  She will start Chorus and Cheer Leading within the week. Soccer did not work out, but it was not surprising. She is going to try and earn her "bribe" in other ways. ;)  We went to the Endocrinologist early last week and her A1C was good.  The staff was surprised that we were doing so well considering everything else that was going on.

I have spoken to both the Kindercamp staff and Sam's Kindergarten teacher about Sam.  Both say that they enjoy him and he is doing really well. Just a little loud (we knew that one already ;))  Sam is receiving Reading and Math Title 1 services during regular Kindergarten. We fully expected he would qualify for this.  This is not Special Education, so he is still considered to be going to Kindergarten without any supports. Hearing the info about his behavior today made me feel really good.  He lets me know about the kids that do have poor behavior though. lol A far cry from what we thought would happen 3 years ago.

After calls to the Epilepsy specialist in Boston pleading for an appointment earlier we secured an appointment for 2 weeks from now.  This is so much better than waiting 1 1/2 months.  Her med increases don't seem to do much, but make her tired. Her Neurologist here is nice, but he does not specialize in Epilepsy and is too slow to respond. He also seems to be doing some things backwards.  I expect nothing less than prompt, truly committed service when it comes to dealing with my child's brain and development. With blood sweat and tears (a little dramatic ;) )  she is finally begrudgingly bearing weight on her legs. She hates it, but it has to be done.  Huge accomplishment. :)

I am tired, but I feel good that things are moving forward.  I even made myself an appointment to see the Doctor and Dentist !!  I just need to remember to go to them.

Adventures in.... What the heck is going on here seizures?

We rushed to Children's Hosptial Boston on Friday Morning because Keira is starting to not meet milestones and her seizures are increasing and evolving.  These symptoms all pointed to Infantile Spasms. If they are infantile spasms time is of the essence and you DO NOT fool around. They admitted her to do a 24 hour EEG.  I have been told this is the #1 hospital for child neurology/ epilepsy in the country if not in the entire world.  People come from all over the globe to go there for an opinion. 
We left the next day with good news and bad news.  We were told that her seizures were clonic (not myoclonic), but the Epilepsy specialist did not seem convincing. The major problem with Keira's seizures is that they are very rare. The other problem is that Neurology is not an exact science and every Epilepsy specialist will have a different opinion on what track to take. I think he wants to wait for the MD with more experience to give more info and decide the course of medication.  He was convinced they were not Infantile Spasms (which is a good thing), but also told us that other seizures can cause delays.   He said to start services locally, call our regular Neurologist to get med changes and to work with the other Children's Hospital Epilepsy Specialist to come up with a plan.  He did not want to step on anyones toes and add meds that may change in a month. We meet with the other specialist in Boston on Nov 9.  So close, yet so far away.
Our local pediatrician called this am and has already called in a referral for an eating clinic at Maine Medical Center. Keira will chew now, but now swallow. She is not gaining weight and has lost a little bit.  She also made a  referral to a Physical Therapy and Occupational Therapy clinic for an evaluation.
I feel good that we are doing all that we can to make sure that she can develop normally.  Anxious to hear what Mr. Expert has to say.
Thrilled that Keira is still the happy go lucky, easiest baby in the world. (besides seizures ;) ) 
Here are a few pics of our stay in Boston and video of what her seizures look like now are on youtube. Let me know if you would like the link.

Daddy Reading Pat the Bunny

The EEG machine with Audio and Video recording. You can see the little picture of her in the upper right hand corner. The squiggles are the activity being recorded in her brain.

Our view of Boston if you looked left.

The sign that says not to swear Daddy.  I also was recorded because I ended up crawling into the crib and slept with her because the cot was like sleeping on the floor.