Catch-Up Post

We didn't go to the AHL All-Star Game this year- we didn't really see a point since we lost the Pirates, so I haven't had anything "big" to blog about.  However, I've come to realize that we have a bunch of cute pictures piling up so I'm gonna do one massive blog post from the past 3 months with as many of them as I can...

A few weeks ago we had 3 blizzards roll through back to back.  In case you can't tell, the girls LOVE snow. 

We always have a low-key Valentine's day.  Kaitlyn made special brownies.  The girls got a few treats... Kenzie got the stuffie and book, Kaitlyn got the candy.  Kevin and I don't usually get each other anything, but this year we just happened to be at The Cookie Jar, so we got sweet treats to share.

Our church had a Mardi Gras party for the kids this year.  There were arts and crafts, face painting, and a guess how much candy is in the jar game.  Kaitlyn won!  My Kaitlyn's guess was only off by 10 Skittles!

It's always a bit sad when St. Patrick's Day falls on a Friday of Lent.  You can tell just by looking at the girls they got those Irish genes big time!  Of course we celebrate it hard... lots of green... lots of glitter... and lots of corned beef!  We wore green all weekend.  Kenzie's outfit may or may not have left glitter all over everything... including Daddy's work uniform (oops!). 

On Friday, since we couldn't eat meat, we had dinner at Olive Garden.  Kaitlyn had a dress down day at school and we brought her a special surprise dessert from Governors where we stopped for lunch on the day we picked up Frozen.

Saturday, we had our first corned beef dinner (yes, I said first!) at one of the churches in our parish cluster.  We share priests and activities, but St. Patrick's Day up here is so big that each church in the cluster has their own St. Patrick's Day dinner.  This church also had Irish step dancing after dinner.  Kaitlyn loved it and attempted to do her own version.  We are now looking into getting her lessons as she quickly expressed an interest in learning it.

On Sunday, after Mass at our church we went to our corned beef dinner. The person wearing the most green at each table was entered into a raffle.  Kaitlyn won, though she didn't realize until after I checked her ticket!

Kaitlyn recently went to the Animal Refuge League with the Girl Scouts.  While there, she got a tour of their new center and made toys for the animals.  She made one for a cat named Kenzi.  And yes, Kenzie met Kenzi though I didn't get a picture as I was holding Kenzie (did you follow that?  Haha).

This past weekend, Kaitlyn went to a classmate's birthday party... at the skating rink.  She'd never gone skating before. Despite the practice rink, it was quickly apparent that I was going to have to suck it up and put on some skates for the first time since 5th grade.  After forgiving the evil high school/ college student at the rental counter for telling me they did not carry women's skates that big, but he would give me a size 10 in men's skates, I saw my life flash before my eyes and made it to the floor.  Kaitlyn took a few spills, but didn't do too badly.  By the end, I wasn't doing too badly either despite Kaitlyn's apparent determination to take me down with her.  She will not, however, be having a birthday party at the skating rink in my lifetime!

Yesterday, we went down to Boston Children's Hospital.  Once we get the test results from the doctor in a few days, Kevin will do a blog update.  And of course, we will be having Easter pictures coming as well!

Our Kitten

Kevin and I took the day off to pick up our new fur-baby today.  He is now settling in nicely.  He's been all over the house smelling everything and everyone numerous times.  He even followed Cloudy all around the house for awhile.  He and Cloudy are easing into a friendship.  There have been a couple of low growls as they try to work out who is going to be top cat, but all in all this is one of the easiest new cat introductions we have had.

Kaitlyn had a blast playing with him and watching him flip his little body around.  She is very excited to go to school tomorrow and tell everyone that she helped name him.

Speaking of names, we had numerous suggestions from friends and family.  We came up with a front runner that was later suggested by a family member.  Then we had another suggestion come in that we loved as well.  We decided to present Kaitlyn with both choices tonight and let her make the final selection.  I'd like to congratulate a family member for presenting the winning bid (although the only thing you win is our gratitude for the name suggestion and bragging rights).  So congratulations...  Uncle Bill.  And welcome Frozen!

Kenzie Lab Results

This past week we started receiving results from Kenzie's genetic lab workup that had been done to see what if any mitochondrial disorder she might have.  Unfortunately the results came back inconclusive.  In order to have the disorder both genes in a strand of DNA have to have the defect.  Kenzie had a couple genes that showed an abnormality , but the matching gene was fine meaning that is not the cause.  Due to this, we have to run an even more extensive genetic lab on Monday.  This will look more into the mitochondrial DNA strands, which is where the most rare causes of Kenzies condition are found.  Less than 20 percent of patients who have a mitochondrial disorder find the root cause here.  Needless to say always good to rule things out, but frustrating that we still don't know for sure what is causing Kenzie's ailment. They are also monitoring Kenzie's creatine levels, which are fatty acids often found in meat that help deliver energy to the cells.  She may need medication to help boost these levels.

Lastly, early this morning Kenzie woke up early as usual and refused to go back to bed.  So I took her down to the couch to ensure we both would get some sleep.  Around 430 I awoke to Kenzie actively seizing.  This was Kenzie's first seizure and we obviously took her to the emergency room.  They checked her vitals and awaited instructions from a neurologist.  By this time Kenzie had started returning to her normal temperament and alertness level.  Based on the advice of our local neurologist Kenzie was prescribed some anti seizure medication and released.

Obviously a lot happening in a short time. Kenzie will go to the geneticist Monday to get blood drawn for the new genetic tests.  March 9th Kenzie will see a cardiologist as a precaution to make everything is good there.  Then we go back to Boston in April.   We may need to do an EEG test in Boston to map Kenzie's brains electrical activity.

Thank you for the prayers and good thoughts .... without family, friends, and God .... this would be so much more difficult than it already is.

Boston Childrens Hospital Visit 1

Today was a very busy day as we made the nearly 2 hour drive down to Boston for Kenzie's first visit with a neurologist at Boston Children's Hospital.  Her doctor here is actually 3 doctors in one, he is a doctor in the disciplines of neurology, genetics, and metabolic disorders.  We had a very good and positive appointment with this doctor.

First and foremost, we will not know exactly or fully what we are dealing with until we get blood results back.  Those are the genetic blood test that were sent out just before New Years.  It will take some time to get those back, probably in February at some point.  Those results will hold the definitive answers to whether Kenzie has a mitochronidal disorder and if so then exactly which one or strain she has, which makes all the difference.

The best part about this doctor is he really does not like the term Leigh's disease.  He states that the term and information is more outdated, and that what we are really looking is possibly a broad range of mitochronidal disorders.  These are the disorders that affect the energy being supplied to the cells in Kenzie's body, much like batteries.  We were showed the MRI images and while most parts of the brain are perfectly normal, there are areas in the deep part of the brain, technically called the basal ganglia, where there are evidence of injury and possible scarring.  This is not from any physical injury but instead from the lack of energy output in this high energy part of the brain.  What does this mean?  Well it could mean a lot of things unfortunately.  The blood results will give us the answer as to where to go from here.  The doctor was very positive letting us know that there are treatable forms of this condition that slow down or even stop symptoms, and in some cases reverse some of the symptoms.  In the event she has a strain that is not treatable yet, there is new and emerging supportive care options that help treat symptoms and help with quality of life , etc.  Kenzie did have blood taken today as well as urine collected (that was real fun.....we waited for a good 2 1/2 hours for Kenzie to pee in the bag...... which ended up being more on the stroller than the bag, but they got enough).  These tests will mainly check Kenzie's organ functions, specifically the liver and kidneys to make sure they are functioning properly as they use a lot of energy.  The tests will also test the acidity in Kenzie's blood as that can be a side symptom of mitochronidal disorders, and if her blood is found to be acidic it will need to be treated. 

The next steps will be setting up an appointment with a cardiologist, who will ensure that Kenzie's heart is functioning correctly and that nothing is amiss.  While it is highly unlikely Kenzie has any issues with her heart, it is important that we check on this and have at least annual checks on her heart as it too uses a lot of energy.  We will have a follow up appointment with this neurologist in Boston in April on the 13th.  We will hear from him in about 2 weeks with the results of the blood work he took today, and hopefully we will hear about the genetics blood work at some point in February.  The doctor also sent a prescription in for Kenzie for vitamins.  There are some high concentration vitamins that have been shown to help with certain strains of mitochrondial disorders.  Since the vitamins don't hurt anything, starting them now could actually help make things better within a couple of weeks if she has that strain.  The doctor advised much better to at least try now before we know what she has , in case it makes a difference. 


But the best summary of the day, and the most important thought that I summarized from everything the neurologist said is this.  While this is a very serious illness, there are treatments out there for some of the strains, and new discoveries are being made more and more.   From this we get hope, but know that no matter what we face a long road ahead.  We thank everyone for their prayers and being there for us, all these prayers make all the difference! 

Dinosaurs Unearthed

Today we went over to the Science Center.  Their current exhibit is "Dinosaurs Unearthed".  In an example of how different the girls are Kenzie was clapping and cheering for the animatronic dinosaurs while Kaitlyn was originally very hesitant about them.  By the end though, she was enjoying them too.  Kaitlyn's favorite part was the last animatronic dinosaur- that one was interactive.  You could push buttons to control its movement.  Pushing the button by the head would make it open it's mouth and roar.  The button by its stomach would make it "breathe" and a button by its tail would make its tail swing.

New Family Member

Our family is growing by one...one fur baby that is!  Although we are usually shelter people, Kevin has always wanted a Maine Coon cat.  After we lost Twister, I gave in and agreed to let him put us on a wait list.  Today the breeder contacted us and offered us one from the most recent litter. 

We haven't named this little guy yet.  He was born on December 21st and is completely adorable!  Meet our new baby...