Thursday, July 19, 2012

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.