Back 2 Square 1

I want to start this post off by being positive because it's not going to end that way.  Trace is doing great right now.  He's been at his baseline and I believe that baseline may have even gotten better than before.  For those of you in the Mito world you know it's all about that baseline.  For those of you not - it's where Trace's normal is.  It's the place we always want our little guy to be.

Now the negative.  I'm angry, so sorry if this post seems a little harsh or crazy.  I received Trace's Transgenomic Nuclear Mitome Test results Tuesday.  They were unremarkable.  Think that sounds great right??  Well not so much to me.  You see this test is something that was supposed to give us lots of answers, something I was so excited to hear was finally available.  Well we got nada!  It was a hope to see exactly what nuclear genes of Trace's were mutated, which could lead us to a more precise diagnosis and most importantly a better prognosis for what his future may hold.  We received nothing - therefore we're Back 2 Square 1.  Ugh!  I cried uncontrollably most of the afternoon and evening.  See I want to know these things.  It's just the type of person I am.  The more I know, the better I can help my baby.  The more the doctors know, the better they can help my baby.  If anyone is wondering, Yes, Trace still has a mitochondrial disease diagnosis.  This test was not to rule that out.  It was just to better help us understand more and develop a better treatment plan for him, yet we got nothing.  Most people may think this is still great, because we didn't receive some horrible news from it.  Well here's the thing, we already received the horrible news October 5, 2010 when we received Trace's diagnosis of Mito.  We still know no more than that day.  I hate that I let myself get my hopes up so high about this test.  I just want to know - is that so much to ask?

I always refer to our lives as a roller coaster ride.  I know in some ways everyone is on that ride.  However, I feel ours is a little on the extreme side.  One day we're on the way up, hang on for a couple more enjoying the ride, oh crap the bottom drops out and then everything comes screaming down hanging on for dear life.  I'm tired of this ride - can't I just get on the carousel for a while please??

Hope, Love, Courage &Faith,

Laurie

UMDF Family Meeting - Morgan's Wonderland

We attended our 2nd Annual UMDF Family Meeting at Morgan's Wonderland this weekend.  I love that place!!  For those of you unfamiliar with Morgan's Wonderland, it is a park built for special people with special needs.  Trace really showed us his physical improvements on the playground areas.  He blew my mind at what he was able to accomplish - all by himself!!  Just shows me that all that therapy we force upon him is well worth it. 

He enjoyed the sensory room even more that last year - I didn't think that was possible, but the Yeahs!, Wows!, clapping and excitement from Trace were at the next level. 

He loved the carousel this year.  Last year he liked it until it started moving, then no so much.  He rode it at least 4 times. 

He had a great time on his Choo-Choo ride.  This kiddo loves trains! 

Peyton played with Trace while we listened to the speaker, who was really informative.  Wish I could have heard this presentation a year ago.  Of course I was still in denial about Trace having Mito and this presentation confirmed it over and over so it might have hurt a little.  I still feel that denial sometimes and it did make my heart sink a little.  That only lasted a very short while though.  The facts are facts and Mito is our reality.  All I can do is work through it as best I can and love every moment with my little Mister.  

It was really a wonderful family weekend full of smiles that make my heart so happy!

This was Trace 20 minutes after leaving the park ~ I'd say he had a great time!
   

Hope, Love, Courage &Faith,

Laurie

Easter 2012

We had a wonderful Easter weekend celebrating with our family.  The weather was beautiful and thus we spent copious amounts of time outdoors.  Trace enjoyed hunting eggs this year.  It was his first time ever to hunt eggs by himself.  Last year he just couldn't, crawled to a couple of eggs and then just sat in the grass dazed.  It made my heart so happy to see him enjoy the egg hunt and of course the candy!! 

Friday Peyton, Bebe & I went shopping.  We had a great time together.  I love when Peyton & I can have girl time together!!  Thomas and Mister went out to visit his family and enjoy a crawfish boil & fish fry.  They spent the day riding the "Choo-Choo", swimming and swinging.  Trace came home extremely tired, but I guess all that fun is hard work! 

My two handsome guys

Check out my muscles!

Look who's swinging on the big swing!!

Saturday was spent with my family.  An egg hunt, lots of time in the bounce house, relaxing on the porch and great food.  Trace and his cousin had a great time boucing & egg hunting.  So much of a good time that Trace was so worn out he wanted to sleep by 6:00.  It was a wonderful day - wonderful memories made.

Sunday we went out to my grandparents farm to spend the afternoon with my extended family.  It was a georgous day again.  We haven't been to this family gathering in a few years - mainly because of Trace's health.  It was really nice to see everyone again. 

We ended Easter with a small egg hunt of our own.  Trace was a little worn out after all the weekends fun, so we all sat in the backyard and enjoyed some great photo ops.

Hope, Love, Courage &Faith,

Laurie

 

Onfi

I'm happy to report we are seeing some good things from Onfi!!  Onfi is a medication which was just released by the FDA October 2011 to treat seizures.   When we last visited our neurologist/epileptogist in March I had expressed my worry about Trace's neurological prognosis.  After a long discussion, Dr. V decided to put Trace on Onfi and titer off of Klonopin and then Topamax.  End result being Trace on Keppra & Onfi to treat seizures and to see better neurological progress.

The good results - We have seen an improvement in Trace's speech development and even some improvement in his physical abilities.  Trace is really babbling - something he's never done before.  Trace said his first two word combination a few weeks ago!  It was Oh No.  I was so proud to finally see him achieve such a huge milestone!  He also said his second two word combination a week ago.  It was Oh Sh*t.  I know I shouldn't be so proud of this one - but I am!  It may not be the best choice of words - but it is two different words together.  It's my fault, yes he repeated me.  Trace thought it was the most hilarious thing ever and cracked up after saying it each time.  This was again my fault.  Probably because I made such a big deal out of it first gasping and telling him no; but then laughing because you just can't help but laugh when Trace does, his giggles are contagious.  Another good result has been a decline in myoclonic seizures!  We had one really bad night with them where he was up from 1:00 - 2:00 AM seizing.  Not so bad in the big picture though.  Once again the fog has lifted and I see the glimmer in my little boy's eyes shining so bright! 

The not so good results - I have noticed an increase in absence seizures :-(  It has also affected his sleep.  His behavior isn't exactly wonderful, but I don't really care.  I can deal with that.  The positive effects of the medication outweigh aggressive behavior any day.

So after discussing all of the above (plus a little more) with Dr. V here is the new plan:  up the dosage of Onfi (double, 3x/day), keep him on Topamax and double his dosage of Melatonin.  Of course I would have loved to hear leave Trace on his current dose of Onfi and titer off of Topamax - but we can't have everything :-)  I'm just happy to hear his beautiful voice more and more. 

I'll leave you to enjoy one of my most recent & best memories  . . .

. . .Trace & Hudson.  Fearless, Crazy, Little Boys!

Hope, Love, Courage &Faith, 

Laurie