A few steps forward and one step back

Over the past month I have been making great strides.  The only down fall Ive had recently is that this past week I got a bad GI virus and have been to the ER twice for hydration.  I haven't eaten solids in 6 days.  We are hoping and praying that I'm on the upswing of this thing as it has been really bad.












I'm not a happy camper right now but last week I definitely had a sense of humor.......

I've had cognitive gains as well.  Mommy has been telling everyone that I now notice when I do something good and respond to people excitement.  I'm am now able to be proud of myself.....what a great feeling.  I am also responding to more verbal commands like....stop, go, clap, and am able to sign "more" in the appropriate context.  Mommy brought my Christmas present out early to see if it would be appropriate.  This was taken during my first few minutes on my rocking horse.


Mommy woke up the morning after Thanksgiving to find me on all 4's in my crib and then I sat up all by my self.  She didn't get it all on video because she was literally screaming from excitement.  Now I'm wishing Mommy and Daddy hadn't seen me do that because they are expecting me to do it again.  So on 3 other occasions I've gotten on all 4's to keep them happy.

Since I have been doing so good with my fine and gross motor skills I needed to start doing something special for my Speech Therapist so she wouldn't feel left out.  The other day I decided to start using a spoon if someone loaded it for me.

Love spending time with Aunt Destin

Hanging with Uncle Widg isn't bad either.

Playing on the porch.

Weeeeeeeeeeeeee !!!!!!!

Just call me Unpredictable

The past two months have been full of ups and downs as always.  My typical progression is that I tend to regress in on area (gross motor, fine motor, or eating) just before making a leap in another area.  We have all become use to this so there is usually little worry when I lose a skill.  However a month ago I lost skills in all areas.  I stopped eating anything but baby food, stopped using my hands for eating and picking up toys, and stopped sitting.  This went on for about two and a half weeks and Mommy, Daddy, and even my therapists started to worry.  We were concerned that things were taking a turn for the worse and if we needed to stop the Potiga, as it might be having an adverse effect.  Then a week and a half ago I woke up after a very difficult night and started to eat, not only eat but biting on foods, which I have never done before.  Later that morning Mommy and I stated working on my gross motor skills.  Mommy put me down on all fours and I stayed!!!!  I didn't rear up and yell and scream which I usually do.  No one had to touch or hold me.  Then I started to rock and even moved my arm and leg. This was HUGE!!!!!  .....an answer to a million prayers.

Mommy has been working hard to try and reach out to others who are struggling with the same mutation.  We have found families to 3 others states, one in Canada, and we believe there are two other  families here in Colorado.  We started a yahoo group for those with KCNQ2 so we can network.  Our doctors are in the process of getting a study up and going to see if the medication I'm on can help other children with their seizure control.  We are in the middle of another medication increase, as we are still not sure if my progress in related to the medication or my natural path.

Love my Uncle Widg!!!

Gotta put on my best for Dr. L

Supervising Aidan's homework.

Not sure about this Sippy Cup thing!!!  Think I'm gonna fight this one tooth and nail.

Faking a nap so I can avoid therapy.

Thanks to Aunt Destin I was the cutest witch on Halloween

Holding my own

So I started the new medication and after a week had to stop due to some possible side effects that we were not sure were related to the medication or the virus I had.  After a week off the medication Mommy, Daddy and Dr L thought it was safe to restart.

I'm about to start my fourth week of the medication and so far so good.  What does that mean exactly, well I am no worse and seem to be moving in the right direction.  It's difficult to say what could be the medication and what is my normal progression.  We are walking a very fine line and having to monitor things very closely (weekly Neuro contacts, EKG's, EEG's, ultrasounds, lab work).  I am holding at a steady dose for now and will meet with Dr L in the morning to discuss where we go from here.

Adding to everything going one I have been struggling with teething.  For the past six weeks I have not been sleeping due to swollen gums and some tummy issues.  Night time is a difficult time for me, and mommy and I spend many (very) early morning hours listening to music and singing as that is the only thing that seems to help me calm down.  I will be going to my second music class this week; hoping to get my grove on again.

After hard work in therapy on using my hands I have now mastered the skill of waving.  I wave all day and night.... and doing a good job at my version of peek-a-boo.

Leap of Faith....

After several months of ups and downs and being turned down by ever doctor we have taken Harper to we decided to take things into our own hands.  Jim has spent countless hours researching Harper's specific mutation and came across a family in Chicago who is in a similar situation.  After several contacts with them and their doctors we decided to take a leap of faith.  You see no doctor will treat Harper as they feel she is doing the best she can do.....far exceeding their expectations on every level.  We are beyond grateful that prayers have been answered.  That being said it is different to look at your OWN child and say, "Sorry Honey this is it!!  There is nothing more we can/will do."  So after countless phone calls, emails, consultations and doctors appts we decided to try something no other family in our situation has tried, that we are aware of.  We started Harper on Potiga today.  This is a new new anti-seizure medicine, only released in May of this year.  It works on the Potassium channels in the brain which are specific to where Harper's KCNQ2 abnormality is.  This is a leap of faith because Harper is not having seizures, in fact she has been seizure free for over a year.  We are trying this in hopes that it will do something (what we don't know) positive to address her gross developmental delays, physical/cognitive).  She is 15 months old now and functioning at a 6-7 month old level depending on what area you are assessing.

Love having my head massaged after EEG

This entails extremely close monitoring which fills up our weeks with multiple doctors appts (Ultrasounds, EEG, EKG, lab work ...... on top of 5 therapies a week).

Therapy with her new Bamboo Splints

We are trying to give our daughter a shot at the best life she can have and are going out on a limb to get this for her.

We are asking our friends and family for support, good thoughts, positive energy and prayers.  We are hoping this medication will work in a way that Harper will continue to progress and have a chance at all the things we were told would never be possible.  We are hoping that his will open the door for others who struggle with his unnamed disorder.

We are hoping and most of all praying.

Montana Summer

See the Humming Bird

Mommy, Aidan, and I made it to Montana for some R&R.  We were not sure how long we were going to stay since I would be missing 4 therapy sessions a week while gone.  So we decided to see how well I did (mom doing my therapy, eating, sleeping, and my tummy issues).  After sitting on a plane for several hours Aidan was a ball of energy until we got to Marmee and Pappou's house.  Then we all just sat quietly and watched the Hummingbirds do a dance.  Coming within a foot of our faces.  They even entranced me.


So what did we do in Montana.  I think a better question would be "What didn't we do?".

We snuggled with Corgi's.

We swam in mountain lakes (big and small), well Aidan did!!

We hiked!!!  There was a lot of fishing, boating, cloud watching, counting deer, and just plain relaxing.

...... and then we would tell Aidan we heard a Mountain Lion when he would get to far ahead of us on our hikes.  (Mommy and I laughed)!!!

Since I was going to miss so many therapies Mommy decided to try something new.  I went to four Craniosacral Therapy sessions.  My Neurologist told us not to waist out money, that it was hokey.  Well we have to disagree......after the first session I was pooping everyday with no issue, started sleeping through the night and staying asleep until 7:30 am (mommy didn't know what to do with herself), making new sounds, and I found my toes.  Everyone has been encouraging me to play with my toes, but it is something that has not interested me since I have not been interested in using my hands.

Daddy few up and spent a few days with us.

Don't let the pic fool you.  The table is holding me up.  BUT it is progress.....

Therapy on the deck over looking the mountains

 

We stayed an extra five days, but needed to get back home to follow up with some appointments.  I have  appointments with Orthotics and Rehabilitation at Children's Hospital to assess for Dystonia and for me to be fitted with arm and foot braces.  It is still up in the air as to wheather or not I have Dystonia.  My doctors have only seen videos of me, but there is a chance that it could be something as simple as Infantile Gratification which would go away in time.  This was such an improvement over my last visit to Montana in October of last year.  I was able to enjoy myself.  We were so sad to leave.

Summer Time.....

Since finding out about my genetic mutation in the KCNQ2 gene Daddy spends his evenings researching and researching.  Daddy spends hours on end reading medical studies from all around the world in hopes of finding out something my doctors have missed.  Well he found a study based in Belgium researching a hand full of children that have a similar mutation, comparing them and their delays/progress, meds, etc.  During that time Daddy ran across another blog about a little boy who suffers from a mutation on the same gene as me.  He has been in contact with his parents and found out that they are trying a medication that was just recently released in the United Stated for the treatment of seizures.  Our interest about this medication is because it works on the potassium channel on the KCNQ2 gene which is where my mutation is located.  This family is on the forefront of trying this medication on children and specifically to see if it can address some of his issues.  It was almost a year ago that my doctors told my parent they would NOT pursue further treatment for me unless my seizure returned.  After we contacted them again asking them one last time to assist in trying pursue treatment they are now interested and in the process of communicating with this little boys doctors.  Over the past several weeks I have been presenting with some concerning behaviors.  After much discussion Mommy sent a video to my Neurologist and a Movement Specialist and they confirmed our fears.  I have now been diagnosed with Dystonia (a neurological movement disorder in which sustained muscle contractions cause twisting and repetitive movements or abnormal postures).  Dystonia is extremely to treat and has no cure.  After more research by Daddy we have discovered that the medication we were looking into can help with Dystonia as well.  If we pursue this medication (which is only used in adults) we will be on the forefront of researching this medication for children as there are no know children my age on this medication.  We are unsure of where this my lead us but we are wanting to gather as much information as possible to see what decisions are ahead.

It had been soooo HOT in Denver, breaking all kinds of records, that it maked it difficult for us to leave the house.  We are so lucky to live across the street form one of out local pools.  We started off with baby steps.  Mommy got me a little splash pool to sit in in the afternoon to see how well I tolerated the water.  I think I like the pool, getting wet with out someone trying to cover me with soap and poor water over my head is a good thing.  With that said Mommy, Daddy, and Aidan took me to the pool.  I'm still trying to figure this baby float out.  I'm happy in the water but I cannot bouncy like in my jumper and that frustrates me a little.  I also took my first trip to the Zoo.  Wow it was hot and crowded and I think I'll wait awhile before I go there again.Aidan had a great time, though.

Mommy and I recently went to the sleep clinic at Children's after things had become dire again.  I was waking up multiple times a night, inconsolable and then up for the count at 4am and not really napping.  We had tried Melatonin once before with no real improvement but are trying another brand.  After multiple suggestions by the sleep behaviorist (who clearly did not bother to read my chart) Mommy and I left feeling defeated and no help for the future with my sleep issues.  We are trying some new things at home and finding some relief.







We have been trying to get out of the house more and more.  I went to my first City Park Jazz and Aidan and I were able to spend time with Uncle Widg and Aunt Destin.

There had been a lot of excitement in our house at the beginning of July.  Last time Aidan went to the dentist she told him he would not lose his first tooth until close to Christmas.  He decided to prove her wrong and wiggled his teeth non-stop......what do you think happened?  The tooth Fairy has been very busy.

Mommy and I decided we needed a break from Denver and are headed to Montana with Aidan to enjoy some quite time.