Saturday, April 24, 2010

Genetics Test Results

I’ve sat on the results from the genetics testing for a couple of days.  I have been trying to figure out exactly how to write about it and then realized that I just needed to get it out.  Dealing with Truman’s health issues was one of the main reasons I started writing this blog and it has helped so much. 
Before everyone starts to freak out that we got really bad news…we didn’t.  Basically.

The test results came back inconclusive.  There were irregularities but they were not able to have them point to a specific disorder/syndrome.

Great news, I know.  I am trying super hard to just revel in the fact that he doesn’t have this specific set of diseases…we think. 

He was tested for a group of diseases called lysosomal storage diseases.  They are pretty horrific.  The body cannot process certain things and they begin to store up in the body leading to major, major problems…including the fact that most children do not live very long.

I have been living with this knot in my stomach.  The possibility that Truman could be diagnosed with a disease that was anywhere near as awful as these diseases sounded let alone the chance that my amazing son might not have a full and happy life was devastating.  So now I am told that he cannot be diagnosed with the diseases because allow his numbers were “high” they weren’t “high enough” to be used as a diagnosis. 


To the doctors that means “come back to see us in 6-12 months to see where we are at that point.  Often a child will start to show us more as they age and we are then able to find the correct path to diagnosis.”
6-12 MONTHS? 

I can’t walk around with the knowledge that his numbers are “high” for an unknown reason.  If he is storing these type of things for any reason and the body isn’t supposed to be storing these type of things…don’t you think we should try and figure it out?  Especially since people who store these things could die?

How intelligent do I sound?  I don’t even KNOW what the THINGS are because I don’t SPEAK MEDICAL JARGON!  They are this long words that sound like they are made up.

Can you tell that I am not doing so well?

I need to sit with it.  I need to get my head and heart wrapped around it.  I know I will eventually find some peace with it.  But right now I am angry.  Very angry.  Partially at myself.  If I would have just let things be and waited the 6-12 months to begin with I wouldn’t be dealing with this knowledge that really isn’t knowledge at all.  It is only a number.  A number that isn’t high enough to diagnose anything but isn’t low enough to be normal. 

Ah…the word normal shows it’s ugly head once again.  God, I love that word.  Ranks right up there with “low tone.” 

I think it is time for a giant bowl of peanut butter and chocolate ice cream. 

Saturday, April 17, 2010

Truman is a champ!

My little guy has made some huge strides in the last few weeks.  I swear he has just exploded with activity.

The big news is that he is army crawling!  It is funny to watch but at the same time I am so freaking excited that he is moving!!  He works really hard but you can tell he is proud of himself.  He is still struggling to get onto all fours.  He has a lot of weakness is in upper body and trunk so he can get himself positioned on all fours and then he can't keep himself up.  He would get so frustrated that he would just give up.  Now he is crawling by pushing reaching forward and pulling forward while pushing with his legs.

He is also pulling up all over the place!  He used to only pull up in his crib.  Now he is pulling up on the couch, on tables, on people!  He is fairly strong in his legs so he really pushes up more than pulls up but he gets where he wants to go.  He even "cruised" a bit along the couch and table the other day during physical therapy!  He is a bit timid.  His fear keeps him from doing things a lot of the time.  He is afraid of falling I think and that keeps him from pushing himself even further.

He is also now saying "up", "out", "uh-oh," and "sis (sister)".  He is constantly blabbing.  He is very vocal...wonder where he gets that from?  He is also LOUD!  He likes to get his point across by yelling.  I think this is more of a boy thing than anything else!

I'm so proud of him!  This whole process has definitely been life changing...but in a lot of ways it is positive.  Truman has given us the opportunity to slow down and appreciate all of the milestones in a whole new way.  We never take any stride for granted.  And this week we have done a lot of celebration dances and cheers.

I know you can't actually tell what he is doing here...but this is his "crawling" position.

Monday, April 12, 2010 win...

In honor of the whole point of this damn blog I am posting the picture of me with Scout's beauty make-over. 

This was right before she covered by entire face with blush...I didn't get a picture of that one-darn!

Sunday, April 11, 2010

The Hazard of Having a Big Sister...

Scout and I played Beauty Shop yesterday and she insisted that Truman wanted to play too...

Daddy was outside mowing the lawn...

I refuse to post the picture of Scout's make-up job on me!  It was interesting to say the least!

I'm sure it isn't the last time Scout will convince Truman to play dress up!

My new cousin!

My cousin Tim and his wife Lindsay added a new member to our family on Thursday.

Introducing Everleigh Rae Shumate!

She is a cutie and we are all already head over heals!

Even Truman!  He got a little jealous when Boppo (my dad) was holding her today but in general I see future best buddies waiting to happen.  Scout of course now wants me to have another baby!


The bank I work for sponsored the Lied Center production of Cats! this year.  Scout, Chad and I headed to the theater for a special night...
Scout was super excited because we have been reading her the T.S. Elliot poems since she was a baby.  Mommy on the other hand had seen the performance before...and once is enough when it comes to Cats! but I was happy to share the love of theater with my little girl.

2 1/2 hours later (not that I was keeping track!) and with the songs stuck in all of our heads we went backstage to meet a couple of the members of the cast.  Scout was pretty star struck.  We got all of the kiddos together for a photo.

Scout now wants to be an actress when she grows up...along with a singer and a vet with an animal rescue in her backyard.  Before she just wanted to rescue dogs and now, you guessed it, she is added cats to the mix!

Sunday, April 4, 2010

Easter Weekend

What a beautiful weekend!  We were high off the news of Truman's test results and the incredible weather and holiday gave us an excuse to be extra playful.

We started off the Easter weekend with a trip to Kill Creek Park for a picnic lunch and hike with CeCe and Papa (Chad's folks).
You can barely see Scout running down by the lake.  It was a little chilly in the shade but overall it was gorgeous.  We at lunch and then started down the trail only to be surprised by something in the trees!
The Easter Bunny had heard we were going on a hike and decided to leave a little gift for Scout and Truman.
Scout was shocked.  Completely.  She saw the presents right away and thought it was strange.  There was a group of kids across the park for a birthday party so we told her they must be for them.  Then she said, "Um, guys...that one says Truman on it." So I told her there might be another Truman and she said, "But, that one says you really think there is another Truman AND Scout around here?"  Good point.

After the presents were opened we enjoyed a nice hike with Truman in his wagon.  It was downhill on the way out...and Truman and Scout ended up in the wagon on the way back...uphill...Daddy was a very tired man after that walk.

Today we headed for church in the morning.  Dressed to the nines if I do say so myself.  I found this adorable suit with a tie for Truman and Scout looked beautiful in her bright pink Easter dress.  (I love an excuse to dress up my kids!)
Look at this suit!!
Is my baby adorable or what??

We had a huge Easter Egg Hunt with the entire Booth clan (minus my brother who as a firefighter has to miss holidays frequently...but we missed him!)  Scout was a champ this year.  Look at that haul!

Since Truman isn't mobile on his own we but him in his push car.  Which is loves.  He gets a glimpse of it and goes crazy.  So he was happy as a clam to hunt eggs while "driving".
First he found his basket...then we headed outside.
We hooked the basket on the back and there were several eggs at the perfect height for him to reach out and grab.  At first he was a bit confused...but he caught on quickly!

After the hunt we went inside to check out the loot.

Scout ended up with over $20, a pile of candy and IOUs for a movie with her Aunt Amy, dinner with her cousin Tori and a sleep-over with Mommo (my mom).  The Easter Bunny got creative with gift certificates this year!

Truman could care less about the money or candy...he just liked the plastic eggs!

This picture cracks me up.  He looks like he has had a hard day at the office!

 Overall it was a wonderful weekend.  Happy Easter from the Booth-Meyers family!

Saturday, April 3, 2010

First part of test results are in...

And the muscle biopsy is NORMAL!  Yup.  You heard that right, NORMAL!!  Truman does NOT have muscular dystrophy or any of the diseases in the muscular dystrophy spectrum.  Whoot.  Whoot!!!

I got the call later yesterday and it was Truman's neurologist, Dr. LePicheon.  When I realized that it was the doctor that called my whole world just stopped.  My eyes went dark and my stomach was in a giant knot. 

The only reason that the actual doctor would call is if there was bad news.  They don't want the nurse to call and drop a bomb on parents and not be able to answer questions immediately. 

So, I heard his French accent and everything fell away.  My brain was screaming with everything that I had feared the most.  Until I heard the word normal and I was brought back to reality.  I had to tell him to start over because I had missed everything he had said. 

The muscle biopsy was normal.  We are still waiting on two more is genetic and one is for mitochondrial something or other.  I don't really understand these particular tests...but they should be back in the next 2 weeks.  He chose to call us personally to let me know that he was not going to give up on Truman.  He wanted to explain that we might not have found an answer yet but he was going to keep trying to find one.  He really is an amazing doctor and we are so lucky to have found him.  We talked a bit about the next steps but basically we are still in a waiting period for these next two tests to come back.  The results will send us in a new direction either way.  If it shows something irregular we will be going down that path but if it doesn't show anything we are going to have to start from square one and redevelop a plan.

There is a part of me that keeps thinking we are just "missing" some clue that is going to make this all make sense.  That if I just said the right word or remembered the right symptom at the right time with the right doctor then it would be a magic moment of understanding and suddenly it would all make sense.

But for now we celebrate a negative muscle biopsy.  What a great Easter weekend surprise.