Some of APRIL VACA

Vacation for us was trying to get Kailyn through her Birthday party without being ill and then dealing with illness the rest of the time. At least one of my three children have been sick each day since April 7. That is fifteen days if you didn't feel like counting. Kailyn was throwing out low blood sugars and ketones for three day straight, Keira is not sleeping and seizures reared their ugly head again.  I am getting sick of it. No pun intended. But, thanks to the B-day party, Art Camp and Grammie and Grandpa being able to entertain the kids I think they had a pretty decent time. Sam did get out with friends once, but no friends or cousins over. It did not help that they think it is summer. This wacky weather makes them think we can go to the beach and actually swim in the water ;)  Ouch! Here are a few pictures of them learning to do their Ripsticks. Huge hit that they got for Christmas. Sam is so proud that it says for 8 years old and up and he can do it. :)  They started out going around the island in the kitchen and progressed to making it outside in Grammie and Grandpa's driveway. I am hopeful that summer vacation will be much better and I will be able to leave the house with them much more often.

 I LOVE the tongue!! He always does it when he is concentrating doing something physical. lol

I CAN DO IT!!

The only time Keira has gotten out is to the Doctors and to get the kids at camp. This is the only picture I have of her during the week. We did go outside, but not in public. What a nasty bug they got!! 

Boston Trip: Children's Hospital Boston Research, Raincoat Cafe and Build a Bear.

We got up at 5am in hopes of leaving by 6am. We left at 6:10. We were going to Children's Hospital Boston to participate in a comprehensive study on Autism. Having two children on the spectrum and Keira with a special gene deletion associated with Autism made them especially interested in us. I swear the genetic researcher was bouncing up and down in her seat when I mentioned the deletion even though she already knew about it before we got there.

      A team of researchers from the Developmental Medicine Center greeted us on the 6th floor. Some Geneticists, a Psychologist, a Neurologist and a bunch of Post Docs were there to greet us. I think there were around eight of them. We checked in and they whisked us off to sign consent forms. After we got through all the paperwork we were all brought to separate rooms to be tested and interviewed for 3.5 hours. Everyone was fine with this part except Sam. At this point, I think he wished he had gone to school instead.  :) We got through the morning and then went down to the seriously busy cafeteria with vouchers in hand and a wide array of things to select from. One of Kailyn's favorite things about Hospitals is cafeterias. This one did not disappoint.

     Afterwards, we went back upstairs and they did a few more things with the kids while I was interviewed for another 3 hours. While I finished up interviewing, they took every one's blood except for Sam. We were waiting to do him last and did not tell him until the last minute because he would freak out. He did. He did not want what he called "a point" put in him even though they gave them numbing cream. We had to pin him down, but once he figured out it did not hurt he relaxed and watched the TV until his three vials were drawn. It was funny listening to them in the car talk about the blood draw. Kailyn swore that she had 5 vials taken and Sam said he had 4. Everyone in the family had three. I talked about both Sam and Keira for 6 hours yesterday. My face was bright red by the end of the day and my brain was fried. I still have a ton of homework to do that they sent home with me and more interviewing to do over the phone. They usually do the research in two trips, but since we were coming from so far we did it in one.

 This is them playing and being entertained while we waited for blood draws and for me to finish up interviewing.

 The Musical Stairs were a huge hit on our way out. We have been here a couple times and I never noticed this before.

Then off to Burlington and the Rainforest Cafe for a reward. (Or Raincoat Cafe as Kailyn enthusiastically shouted out to the researchers when we first got there) They were very good research participants. It was a long day of cognitive tests etc...and they did wonderful. Even Sam, who I hope won't be completely scarred for life about hospitals.

 In front of the fish tanks and rain.

 Sam and Keira both touching the rain. They inspected every inch of the restaurant and we survived two thunderstorms while we were there. There was a ginormous gorilla right next to our table. I thought it would freak Keira out, but no. Sam was the one that was scared and had to be convinced that it was not real. Kailyn wanted to get up and touch all of the animals.

 Type 1 Diabetes nightmare.

 Volcano cake for dessert. HUGE and thrilling for the kids. Never have had anything like it. Although, it could easily be recreated for a birthday party. ;) Keira loved playing with the top of it.

Then we went to the Lego Store and Build A Bear to get the rest of their rewards. All of them got bears. This was Keira's first bear and I named her Dreamy. She can't name things herself at this point. So, I named her this. I have big dreams and aspirations for Keira.

 The Bear Helper really made them work to put their hearts into their bears.Then, we finally left the mall. We basically closed it at 9pm. We headed home and they passed out on the way. First, Keira about 15 minutes after we got on the highway with Dreamy.

 Then Kailyn with Diabetes Bear and Candy.

 And finally Sam at 10pm, who usually goes to bed around 7:30, with Beary and Armyman Bear.

New and old Bears to cuddle with.

Keira woke up early, but Sam and Kailyn are still fast asleep. I will bring them to school when they wake up.(If they ever do) 

     Hopefully, we were helpful and will continue to be helpful in research for years to come. They will store our blood/DNA for years too and study it as needed. Our names are not on it. Just a number. However, if something major should ever come up they will track our names down and let us know. This also will help save us money on testing they wanted to do on Keira as well.

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.

Soccer, Sun, Fun and Feeling Normal

We had a family soccer day today. It started at 8am for Sam and ended at 11:30am with Kailyn.
It may seem like a pretty typical day, but WE are not a typical family. It has taken a long time for us to get to this day. A day without constantly thinking about issues going on with any of the kids.
I can say that I thought about Diabetes, Epilepsy and
Autism for a nano second here and there. (Keira had a seizure during her bottle and Kailyn looked like she might be low once) However, it was NOTHING like it was two years ago when Kailyn was first dx'd with Type 1 D and we were waiting for the sky to fall at any second. We tried to get right back into her normal activities, one of which was soccer, but going to a soccer game was NOT care free then. I can say that today it was and it was FUN!!! We ended up having to cease all extra curricular activities right after Type 1 D Diagnosis. Everything was routine and felt......well.... normal today.

We enjoyed watching our Kindergartner on his first official team. He was out there playing with great confidence and was even instructing some of the other children about the "rules". Something he is a stickler for. He may knowingly break them sometimes, but he calls people out if he sees they are breaking them all the time. A habit we are trying to break. ;) Three years ago at this time he was diagnosed with Autism. He could barely talk then and we had just started to use the PECS communication system to try and figure out his wants and needs. We hoped he would be able to function in society at some level, but thoughts about being on a team, let alone instructing other children, were far from our minds.

Our Third Grader bravely tried soccer again even though it was causing her to have anxiety stomach aches once we got there. We recognized those stomach aches for a brief moment and she got right back out there. Joining a soccer team may seem pretty normal and mundane for most third graders, but for Kailyn it is a huge milestone. Before her diagnosis we were into all the activities and she enjoyed them with ease. Once she was dx'd, anxiety about everything set in and she did not want to do any group activities. She turned a corner this summer in regards to this when I gave her a cellphone so she could attend vacation bible school. I decided that she needed to take the next step and join a team of some sort. We (meaning I) picked soccer. I did bribe her, but I am proud of her nonetheless. She had fun and was showing self confidence by the end of the practice AND she wants to go back!! I am pretty sure that soccer won't be a major part of her life in the future (You never know though), but we made that HUGE step and that is all that counts.

PS: We do have one problem. She does not like how her mouth guard feels. I told her to not wear it and she said that she has to because she wants to be a goalie! ;)