HTRA2 What Again?

This post is for all the science nerds out there.  So back in 2002 (that's five mid term elections and sixteen Super Bowls ago) the kid started showing symptoms like tremors, seizures, developmental delay, etc and lost her ability to walk independently.  Lots of doc visits, multiple brain MRI’s, a spinal tap, and all sorts of other lab work yielded nothing except a lot of head scratching from the medical folks who were trying to figure out what in the heck was going on with our kiddo.  Finally after undergoing a muscle biopsy in Atlanta in late 2005 she was diagnosed with a mitochondrial disease.  According to our friends at Wikipedia..... 

Mitochondrial diseases are a group of disorders caused by dysfunctional mitochondria, the organelles that generate energy for the cell. Mitochondria are found in every cell of the human body except red blood cells, and convert the energy of food molecules into the ATP that powers most cell functions.

So since then we have gone with that as a generic diagnosis because the root cause of the mitochondrial dysfunction has always been a mystery.  In 2016 our neurologist in Denver suggested we try DNA exome sequencing to see if any new genes had been discovered that might match something in Kinley's DNA.  We did the lab work at the hospital and they sent it to UCLA where apparently they can do more than produce NCAA basketball and football talent.  Who knew they could also exome sequence the heck out of some DNA?  The first results came back with nothing remarkable and we were a little bummed but hey we've been living with plain old "mito" as a diagnosis for 13 years so we just marched forward like we always do.  We saw a new metabolic doc in Denver this summer and something clicked with him when he examined Kinley and poured over her files.  He asked the lab at UCLA to run their sequencing again and this time there was a hit.  Evidently she inherited a copy of gene HTRA2 from Dad with a mutation that disrupts normal protein function.  By itself that wouldn't cause any issues however it turns out Mom was also a carrier of HTRA2 with a slight mutation and together these two "flawed" copies of HTRA2 that were passed on to Kinley are what caused her mitochondrial dysfunction.  I don't know what the odds are that two carriers of something like this would find each other in Wichita KS, fall in love, get married, and be blessed with this beautiful child but we've got to be in Powerball territory I would think.  

This is a newly discovered gene mutation and there aren't any patients as old or older than Kinley that we can look to and try to see what a prognosis might be for her.  However we at least now have a more specific diagnosis and should there be therapies developed in the future we will be notified and given an opportunity to explore those.  That possibility gives us one thing every parent of a special needs child can use each and every day.  HOPE!

Five to close

Suzie is a very smart woman.  I mean she picked me as the person to hang out with the last 23.7 years right?  Well a few weeks ago she came up with what might be the single greatest idea in the history of the world.  Ok that's laying the hyperbole on a little thick but it really was fantastic.  So our old way of handling the routine each evening in caring for the fabulous Miss Kinley was that we would alternate each task including who puts her to bed.  For example it might go.....help her eat dinner (John), give her meds (Suzie), dessert (John), bedtime i.e. bathroom, brush teeth, read book (Suzie). and then the next night we would switch the order.  Even though after years of practice we were pretty good at this method it had a fundamental flaw:  It required both of us to be engaged every single night and nobody had a "night off".  So now we have a new schedule thanks to my awesome better half.  Each night one of us handles everything after 5pm so the other person can relax and take a night off from caregiving.  Now if I'm off for the night I can go downstairs to watch a ball game, go to the gym, or make time to write more than one blog annually.  Suzie might want to go shopping, read a book, or catch a few episodes of the Real Housewives of Bachelor Island Paradise. It's been great having that down time to look forward to every other night.  I jokingly called it the 5 to close shift and now its the law of the land.... or at least it is for our little plot here in El Paso county Colorado.

Back to school..............one more time

Well since my last post the decision was finalized by USD 266 that Kinley would attend Maize South High for her senior year.  That adventure started today when the bus rolled up in front of our house at 6:45 AM.  It really doesn't seem possible that this year will be her last as part of a school community.  Like most parents this kind of event tends to shift you into a reflective mode.  All of the schools she has attended in Olathe, Maize, and Parker (CO) have been amazing.  She has had many wonderful teachers, therapists, paras, and administrators at each stop and we are so grateful for all of them.  Last night I was thinking about how proud I am of her and all she has overcome and accomplished in her life so far. Whenever we have had IEP meetings, parent-teacher conferences, etc over the years we've been told many times what a great attitude she has and how hard she works.  That makes me so proud to be her dad. Have a great senior year Kinley..you're the best!

$!@%#&@$% !!!!!!!!!

Rant in 4,3,2,1...........Right before Thanksgiving we were notified in a very cold, business like memo that Kinley's special education classroom was going to be moved from Maize High to Maize South High in the fall.  No one will take ownership of this decision including the Maize superintendent, the Maize BOE,  and the Sedgwick County special ed co-op board.  All however are willing to play keep away from the parents and send us back and forth to each others meetings trying to get answers.  Basically we're taking an entire classroom of special ed kids from a school with an amazing culture of inclusiveness (130 regular ed kids are involved in Friendship Club at Maize High) and moving them to a new high school.  Oh but we have a shiny new classroom space at Maize South just for them is the party line coming from the administration and folks on the board.  Is that what's best for this group of kids?  Most of these kids have a very difficult time adjusting to new environments and new people but I guess that doesn't matter.  Apparently the thinking is this......the FAA program has a wonderful environment now and these kids are thriving at Maize High so let's move it somewhere else. Brilliant!!  There was no communication with parents asking for input before the decision was made.

Tonight myself and several others attended the special education cooperative board meeting.  Below were my remarks.  The bottom line I have learned is this......if you are a special ed student in any district covered by this co-op you are not truly a part of the school you attend.  It is just a brick and mortar structure where you "receive services" and you can be shipped to another structure at any time if the administration thinks there is a better use for that space you occupy now or they have another space in mind for you.   I'm extremely frustrated if you can't tell.  Had we known this type of action was on the horizon we would have stayed in Colorado and let Kinley finish at Chaparral High.

Good evening and thank you for the opportunity to speak tonite.  My name is John Hower and I am here on behalf of my daughter Kinley who is part of the FAA program and a junior at Maize High.  One thing I learned early on in my journey as Kinley’s dad is that I have to be her advocate.  She can’t drive here, walk into this room and state her case on this matter.  She has a mitochondrial disease that has robbed her of the ability to walk independently, given her Parkinson like tremors in her hands, partial seizures, and developmental delays that can make learning difficult.  But she has a great attitude about life and she loves the community at Maize High. There she is involved in Friendship Club, Pep Club, Tri County sports, and cheerleading through Project Shine.  She feels safe, welcome, loved, and included there and that has nothing to do with the physical dimensions of her class room space or the amenities of the building.  It has everything to do with the people and the culture that has been created in the building by the students and staff there. 

At the Maize school board meeting this week Superintendent Higgins had a very informative powerpoint presentation about how special education is delivered to students within the co-op districts.  He laid out the case as to why the decision to move these kids to Maize South was being made and how it would more evenly distribute the numbers between the high schools.  Well I don’t know how you feel about your kids by mine is NOT a number.  She is an incredible young lady who loves her school community and should not be forced to move to a completely foreign environment because it would help even out some numbers on a chart.  The one thing I have yet to hear from anyone involved is how this move will improve the educational experience and outcomes for Kinley and her classmates in the FAA program.  If this board thinks a shiny new classroom with a little more square footage is the answer I would strongly disagree. While I have a college degree I'll admit it's not a masters level degree in education or school administration; what I do have is over 140,000 hours of experience being Kinley's dad.  That experience and knowledge tells me this move would not be a positive thing for her.

Lastly I will leave you with this thought.  Kinley got the opportunity to cheer at the Maize varsity girls basketball game this week through Project Shine.  I looked around the gym at all the students watching the game, the basketball players, and the cheerleaders.   Each and every one of those young people gets to choose where they are going to finish high school.  Kinley and her classmates however are going to be forced to leave the school community they love and go somewhere else.  That in my opinion is an injustice to these kids who already deal with plenty of challenges every single day.  Please do the right thing and find a solution that will keep these kids at Maize High.  Thank you.

Kinley fall adventures

Well the first half of her junior year of high school for Kinley is almost complete!  Time to catch up my tens of readers on the last few months of life back in Kansas.  We arrived in Wichita on July 13th and we were reunited with our belongings on July 19th so that was a hoot.  Over Labor Day weekend we headed to the Branson, MO area in search of the closest thing to mountains we could find......the Ozark hills.  It was very scenic country and we enjoyed our time there including a trip to Silver Dollar City and the Branson Landing shopping area.  After two days of fun we headed back to Wichita and the school routine was revved back up.  Kinley is really liking her experience at Maize High as there is a tremendous culture there of respect and inclusion for the special needs students.  She is involved with Friendship Club, Tri-County Sports, Pep Club, and even got to cheer on the sidelines at a couple of football games!

The big health scare of the fall was a pretty violent tonic-clonic seizure that happened around midnight in early September.  We called 911 and got her to the hospital where she was evaluated overnight and examined by a neurologist.  She had been having some small absence seizures (staring / out of it for a few seconds) so we were starting to get concerned.  The doc put her on a new medication and she has been seizure free since late September so we are very grateful for that.  Overall she has been very healthy and is enjoying school so that is all any parent of a teenager can ask for.......except for maybe a constant angelic attitude.  I can dream right?  Stay tuned for the next post about a curveball that we just were thrown by our school district in the last few weeks!

Going Home

Five years ago we moved from Wichita, KS to Parker, CO and it was a great decision for our family.  Children's Hospital Colorado in Aurora has provided excellent care for Kinley including a major surgery (spinal fusion) in 2013.  The cooler summers (especially in the evenings) have been easier for us to do more outdoor activities without the heat/humidity wearing Kinley down.  The opportunity to go to MDA summer camp in the mountains has been an amazing opportunity for Kinley as well as allowing Suzie and I to get away for a week each summer to  explore beautiful places like Vail, Steamboat Springs, and Breckenridge.  We have been blessed to have incredible neighbors and friends as well as wonderful school communities that have nurtured and challenged Kinley from 6th through 10th grade.  As recently as a year ago I never thought we would move or at least not anytime soon.  Yet as I type this tonight we are less than 72 hours from moving back home to Wichita.  There are multiple reasons for the decision but really it comes down to family.  We wanted to be close to family again and also believe the smaller community could be the best setting for Kinley after she finishes high school and begins the pathway to adulthood.  We believe she is much stronger than she was five years ago and that we can take the precautions to  manage the hot summers.  So far everything has worked out and fallen right into place for the move.  We sold our home in three days and for over the asking price (crazy real estate market out here).  I was able to find a new job with an industrial equipment supplier in Kansas City that needed an outside sales rep in Wichita and I start on August 1st.  We found a great house during a holiday weekend trip to Wichita and will move in this coming week.  I guess this transition was supposed to happen and we are grateful all has gone so smoothly.  Kinley is growing up so fast and we are excited about her being able to reunite with friends in Wichita and also to be able to spend more time with grandparents and other family.  Will sign off now as have to get up early and...........you guessed it............pack!

One year in one post.

Well this is embarrassing.  Over a year has passed since I have updated this blog and so much has happened since April 2015..........let me see if I can catch everyone up! 

Camping:  We had a great time last summer/fall with our travel trailer and enjoyed camping with friends in beautiful Colorado!  Kinley loved the nightly campfires, smores, and having our dog Maddie sleep with us in the camper.

Health:  Our main challenge this past year has been to try new medications in an effort to improve her Parkinsonism symptoms i.e. tremors in hands and arms.  She has added two meds and while we have seen some positive change in symptoms we had hoped for more consistent results.  On a more encouraging note she recently has been able to stop taking her lone seizure medication and so far there have been no signs of any seizure activity. Yea!  We also recently entered into a family DNA exome sequencing test program so we are excited to see if this yields any new information regarding Kinley's original diagnosis or treatment.  They took blood samples from all three of us and we should get the results back in late June or early July.  I'm not sure if a flu shot or a blood draw is #1 on Kinley's Things I Hate To Do list but it has to be one of those.  Brushing teeth and turning down the sound on her I-pad are top contenders too but I digress.

School:  Kinley is wrapping up her sophomore year at Chaparral High School next week.  Holy cow this cannot be happening!  Where did my pre-schooler go??  She has continued to thrive socially while working hard to achieve her academic and physical goals set out in her IEP.  The staff and students at Chap have been amazing and she is a proud Wolverine!!

The Future:  Our family has decided to move back to Wichita, KS this summer to be close to family and life long friends again.  Kinley is sad to be leaving her friends here in Colorado but excited about reuniting with old classmates in the Maize, KS school district and also being in the same city as her grandparents.  We are looking forward to house hunting there soon and also re-introducing ourselves to humidity and wind.  Ha!

See you soon Wichita......cheers!