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.