Paging Dr. Truman, Dr. Truman…

It is hard to find a place to start when it comes to the medical side of Truman.  Mainly because we have no real answers so every experience ends with, “Well, we really don’t know what is wrong, but we know something is wrong.” 

Truman has been seen by specialists from the top of his head to the tip of his toes.  He has been poked and prodded and then poked and prodded some more.  A basic rundown of Truman’s situation…

Truman started having seizures at 5 days old.  Actually, I think it was happening earlier than that…in fact I think he was having something like a seizure when I was still pregnant.  I remember feeling him jerk around in there and commenting that it felt like he was having one.  At that time we laughed and joked about having a very active child.  After his arrival he struggled for the first 24 hours to breath and was on oxygen.  Each time I held him I just “knew” something was wrong.  He was beautiful and tiny and perfect but something just didn’t feel right.  When he started having the seizures a few days later I wasn’t surprised.  Scared, but not surprised.  We ended up at our now home away from home, Children’s Mercy, in the NICU for a week.  They began the poking and prodding process.  We found out that he had low calcium levels and a few doctors felt like that was the answer.  But the nurses and another doctor told me that it wasn’t and looked at me in a way that made me realize that we were far from done.

We started seeing his neurologist who referred us to other specialists based upon his main symptom, Low Muscle Tone (LMT).  We saw GI doctors because of tummy issues…caused by LMT.  We had tests done that showed major issues with swallowing…caused by LMT.  We saw ENT…LMT.  We saw Physical Therapy…you guessed it, LMT.  We eventually landed in Genetics.  Our neurologist had already performed a lot of testing in the genetic area but they did some more.  Everything always came back negative.  We had some big scares when a syndrome or disease would be thrown around by the doctors.  Waiting for weeks on end for test results to come back while trying to pretend like our entire lives weren’t hanging in the balance. Negative.  But he did have LMT! 

The LMT has caused many developmental delays.  He crawled late, walked late, had difficulty growing…and now talking late.  We have a new version of time.  We call it Truman Time.  He has always eventually done everything he was supposed to do but just on his own timeline. 

Currently we are on what I call the “See you in 3 months” plan.  We see a doctor, they are excited by his progress, they say they wish they had more answers and then tell us to come back in 3 months.  I used to be terrified between visits.  I thought that he has some horrible syndrome and that we were losing valuable time.   That if we figured out what was wrong in time we could make it all stop, fix it and everything would be normal.  I also feared that it was one of the really, really bad ones.  The ones you skip over when reading on the Internet because it is too scary to even read about.  The ones that say “average age of death.”  I worried that we would find out it was one of those and we had wasted so much time without knowing that our time was short.

Now…well…I am usually OK with the 3 month plan.  It means that there is nothing major going on and we can just keep moving forward.  The fears still seep in occasionally but I know how to deal with them now.  In fact, right now we are waiting on some huge test results.  Huge.  We have been waiting 6 months and could wait another 6.  We are part of a genetic study that looks at the entire genome instead of just one little part specific to a syndrome.  The idea behind the study is to find out if Truman has anything wrong on any part of the genome.  If something shows up that info will be placed in a international computer system.  It will search for any other kids who have similar changes and check the symptoms.  If there is a match then we can hopefully start to see what could turn into a newly “found” genetic syndrome.  Someday there could be a Truman Meyers Syndrome based upon his participation.  Not exactly the fame I had hoped for…but if it can help a future child and his/her family know what the future holds then I think it is the best fame anyone could ask for.

If nothing comes back abnormal in this study we are literally at square one.  We have no idea if there is something “wrong wrong” or just a bit delayed.  It is an interesting situation to be in because we may literally never know what is going to happen.  So much for my desire to be “in control” at all times. 

For now we continue to do what we have always done…love him and provide him with opportunities to succeed.  Each day he shows us a little more and we are always amazed by every little step forward.  Many people hear the word “delayed” and assume that it is also mentally…and to this point that isn’t true in Truman’s case.  He understands everything that is said.  He follows high level directions, can identify letters and numbers and colors.  He can turn on an iPad by himself, find his game and play….which is advanced for some adults I know!  His ability to show us everything he knows is only limited because of his lack of speech.  But we are working on new ways for him to communicate and continue to offer him the same type of activities that any 3 1/2 year old would be interested in.  You should see him play Candy Land with his sister!  Whew!  He is a champ!

So…another long post for another long story.  I didn’t even talk about his submucosal cleft palette, laryngeal cleft, hearing issues, tubes or surgery…

Well, another post will have to cover that info…

If I only had a brain…

The good news is that Truman has a brain!

OK…that was a bad joke.  Of course he has a brain!  And it is a beautiful one too.

We got the results from our neurologist finally.  He called us himself…which is one of the things we love about him.  It is also incredibly terrifying when I hear his voice.  Why would the doctor call if it was good news?  Right?

But it was good news…mostly.

His brain has “minor changes” that do not “raise any red flags or give a specific diagnosis.”  He has all of the parts and pieces and there is no evidence of degeneration.  All really great news.  Of course hearing that there are any “changes” makes my skin crawl but with no visual it is easier to to deal with.

The hard part is the thing we have struggled with throughout this entire process…we don’t have an answer.  We know something is wrong but we can’t figure out what it is. 

His neurologist understands our frustration.  Every test that we take we pray for a negative result but with every negative result we are further from understanding what is going on with our son.  He has tested and tested and tested and just can’t find the answer.  He cares enough to call us personally to talk through the next steps and to apologize for not being able to find a diagnosis.

Have you ever had a doctor apologize to you?  Me either.

So we will continue with physical, occupational and speech therapies.  We have an appointment with Cranio-facial in January along with another Swallow Study.  We are also due to go back to Genetics.  Every day we will keep working with him and trying to give him all of the support he needs to get stronger, gain balance, learn words, etc., etc.  In other words—we don’t stop fighting but we don’t know what we are fighting against.

It feels like we are flailing around in the dark just hoping to land a hit.  And it is so hard for people to understand.  I keep hearing “no news is good news…right?”  Well of course!  We do not want ANY of the things we have been testing for to be the diagnosis.  But maybe if we had a diagnosis we would know that we were doing the right things for him.  Or we would be able to prepare for the future.  Not knowing what could happen next is impossible. 

Good news…mostly.

MRI Tomorrow

We have officially hit the point we were hoping to avoid.  Tru was given until 18 months to walk or we would need to do an MRI to check out his beautiful brain.  Well, here we are at 20 months and still no walking…

Our very blunt neurologist (whom we love) in his French accent told us:
”We need to see if all of the parts of his brain are there.”

Hmmm.  Didn’t ever realize there as a chance that all of the parts wouldn’t be there.  After all he is living, breathing, crawling, babbling, hugging, kissing, splashing, laughing, etc. etc.  It didn’t seem like an option.  But, I guess it is.

The other thing we are looking for is the ratio of grey matter to white matter or something like that.  Apparently by this age the brain should look fully formed.  If you have an MRI any younger it is difficult to see everything because it is all still white and not differentiated.  I guess we can see if it looks “normal” or not. 

He will have to be put completely under because the MRI has to be done completely still.  He is 20 months old and will go under anesthesia for the 3rd time.  It never gets any easier.  The memory of him coming out of anesthesia after the tonsil surgery is still very fresh in my mind…and it is not a pleasant memory. 

We should also be receiving the results of some the genetic testing we did in September fairly soon.  Again—we are keeping our fingers crossed that everything comes back negative.  It is such a weird position to be in.  We are trying so hard to figure out what is going on with him but each time we test we hope to not find an answer. 

The good news is that I have reached a point where I no longer completely freak out every time we are waiting for an answer.  I can put it all in a box on the shelf and not deal with it every second of the day.  Occasionally the box decides to fall off the shelf and hit me the head making me crazed for a few hours.  Typically this happens at night when the house gets quiet enough for me to think.

Here we go again…

Tonsils and Adenoids are Outta Here!

Truman’s surgery to remove his tonsils and adenoids was today and everything went very well.  I was shocked by how quickly the whole process was.  We had a few hiccups to start but overall I was really happy with the care we received.

Because of Tru’s muscle weakness issues he has special anesthesia needs.  He cannot use the “gas” that makes you fall asleep before the actual anesthesia is put in the IV.  The gas can cause issues for certain muscle disorders and lead to some pretty scary complications.  So instead of getting to head into surgery, get the gas to go to sleep and then receive his IV he had to get the IV done before he went in.  IV’s on little ones are hard especially if you aren’t used to doing them.  The folks at Children’s Mercy are typically bing, bang, boom and done.  This time not so much.  They did give him some medication to relax him first and my high pain tolerance kiddo didn’t even cry through the entire pin cushion process.  That IV therapist should thank his lucky starts that he is so weirdly able to handle pain!  They also had to prep the room and remove any gas from the lines before he went in so we were running about an hour late after everything. 

We didn’t get to walk him back which was very hard.  I had to hand him over to the nurse which just killed me.  I felt like my whole world just left my arms.  It literally felt like my heart was ripped out of my chest.  He just looked at me and smiled and I sent him off.

The actually surgery only took about 30 minutes.  I was so amazed.  When I got my tonsils out in 4th grade it was major surgery.  I spent 2 nights in the hospital and I remember it being this crazy long procedure and recovery.  His ENT came out and told us it went very smooth.  He commented about the size—BIG.  He is positive that he is going to be able to breathe much better.  Our hope is that with better breathing he will sleep better, grow more and become stronger.

The experience of seeing him in the Recovery Room was horrific.  NOTHING like what we experienced for his muscle biopsy.  When we came back then he was a little fussy but comfortable.  Once he was in my arms he calmed down immediately and I gave him a bottle and he was a happy camper.  Today when I walked in the room a nurse was holding my thrashing baby who was screaming and had blood dripping down his face.  He was not really awake and he was scared and in pain.  The blood turned out to be normal secretions but he just had a lot more than normal.  He was having a really hard time breathing through them and he sounded like he was drowning.  On top of the screams he was unable to control his body and his head was flying all over the place.  I grabbed him out of the nurses arms and he calmed down a bit but he was still very confused and was really struggling to breathe.  They told me he was “much better” than when he first came out.  WTF?  THIS was better??  I cannot imagine what he was like now that he was “better.” 

They added some more pain meds and used a suction tube to help him.  I crawled onto the bed and held him on my chest just like we did every night when he was a baby.  He settled down and slept.  We had to add some oxygen to help him keep his O2 stats.  As long as he had the meds and we could keep him suctioned he was OK.  After about 45 minutes things got much better.  The doctor came in and gave us the all clear.  We removed the oxygen and checked his stats and then we were out the door.  I was simple amazed that I was taking my son home only a few hours after surgery. 

They sent us home with pain meds and Tru was OK at first.  He was sleepy and a bit whiney.  Then it was time to give him a dose of meds and it was horrible.  He screamed and grabbed at his mouth trying to get it out.  Most of it dripped down his chin and the rest was on daddy.  I had no idea how much actually went in but it wasn’t enough to keep the pain down.  He was super fussy and couldn’t get comfortable.  He wouldn’t drink.  Finally he slept and when he woke up it was time for another dose.  Same situation.  This time I think even less actually got in his body.  I called the  nurse and had them order the same meds he took after his muscle biopsy.  When he took that dose it went right in and everything was just great.  Within a few minutes he was smiling, drinking and even stood up and played on the floor for a while.  He then went into a perfect comfortable sleep.  Whew.  What a difference.

He is almost ready for another dose and hopefully this one will be the same.  The next few nights we will need to wake up everything 3-4 hours to give him his pain meds and get him to drink.  If his throat gets dry it makes the pain worse and can cause complications.  I pray that he spends the next few days sleeping and just letting himself heal.  Hopefully after a few weeks we will start to really see some improvement. 

I had a dream the other night that it was the day of Truman’s surgery and I handed him to the nurse.  A little while later the doctor came out and told us that it went well and he was doing amazing.  He couldn’t wait for us to see him.  When I got back into the room he stood up by himself, walked over to me and said “hi mommy!”  I hope that it is a sign that this surgery was the right decision and will help him accomplish all of these milestones.

Thank you to everyone who sent out prayers or good juju.  It was felt and it was powerful.  Keep us in your thoughts a few more days while he heals. 

It is done.  Thank God.

I suck at this...

I was doing so well for so long...and then I fell off the blogging wagon.  So I am getting back on the horse or whatever silly saying fits in this situation.  So much has been happening and I think I have just been living in the moment and then crashing.  I forgot how good it felt to just let it out by writing.

I pledge to blog.  I promise...well, I promise that I will try.