Friday, September 20, 2013

For Andy....and Awareness

In recognition of Mitochondrial Disease Awareness Week, I wanted to share a little bit about Andy’s story.   Some of you have been around since the beginning of his story, some of you haven’t and only know him now.  Either way, he’s a fighter.   And we are ALL lucky to have him in our lives.

Andy was born July 8, 2004.   He was three weeks early, but still arrived weighing 7lb. 11oz. and 21 inches long!   We were induced, because my blood pressure was a mess, but all went well.   He was a beautiful little man.

All I can tell you though, is that from the beginning, I just KNEW something was not right.   Call it mother’s intuition, call it voodoo, call it whatever you like, but I knew.   He cried…ALL the time.   And I know what colic looks like, but this baby cried if he was awake.   He puked…EVERYTHING.   And from here, it progressed.

Within a few weeks, he was choking when he ate.   He aspirated.   He stopped breathing.    It’s hard to say this about your child, but he scared me.   He scared EVERYONE.   I have a dear friend who is a nurse of many years, and she was afraid to be left alone with him.  

Soon our pediatrician admitted him to the hospital.

While in the hospital, he was diagnosed with laryngomalacia and trachealmalacia.   This essentially means…he had a very floppy airway.   When he would take a normal breath, it sounded like a howl came from his throat.  Every.  Single.  Time.    It also caused him to have a hard time sucking, and therefore eating.   We were all a little scared of him.

During this stay in the hospital, he faced his first major surgery.   He had a supraglottoplasty to repair his throat.   He came through it like a champ, but it is something I care not to remember.   He had to be kept asleep for two days while his throat healed, and he was on a ventilator.   Sleeping in the PICU with my little man was a horrible experience.   But again…he came through.

We didn’t leave the hospital after surgery.    We spent another week and a half in there, because even though he had recovered from his surgery, he still couldn’t pass stool on his own, and he still had issues that the doctors couldn’t identify.   It was very hard to have all the top specialists at the hospital see your child and tell you they didn’t know what was wrong.   It was hard to have student doctors ask if they could take a picture of your child because they had never seen a child as hypotonic as he.   (low muscle tone…or as they put it….floppy.) 

We spent 18 days in the hospital that time.   And left with no answers, and a whole list of questions, and a BARRAGE of doctor appointments scheduled.  

In the coming weeks he saw neurologists, neurosurgeons, geneticists, cardiologists, gastroenterologists…the list went on and on.   He started on special prescription formula that was only available through the pharmacy.    And even though it was a prescription….insurance wouldn’t cover it because it was a nutritional supplement, not a drug.   He had special medications that we had to have compounded at the pediatric pharmacy.   It was a lot to keep track of, but we did it.

We had a nice home.   Jason makes a nice living.   And STILL we had trouble paying for all we owed.   It was a tough time.

Andy began receiving services from the state of Wisconsin’s Birth to Three Program.   He got in home PT and OT twice a week.   He wore therapy suits called theratogs.   He eventually had custom braces made for his lower legs and ankles to help him when he was learning to walk.

And through all of this….we knew very little.

Eventually his neurologist ordered a skin and muscle biopsy to be done for testing.   It was through this test that we discovered Andy had a mitochondrial disease.   The  fun in all of this is that it’s a very new diagnosis, and he couldn’t be specified as to what TYPE he had.  

We were told he may never walk.   He may never talk.   He will probably need a G-tube for feeding.   (a surgery I cancelled Against medical advice, and I am SO GLAD I did.)  We were told he may have mental challenges.   No one knew what his prognosis might be.

So we continued to advocate for him, and to search for answers.  We saw doctors in Chicago.   We saw a mitochondrial specialist at the Cleveland Clinic.   And every one said….he’s a really interesting case.   But no one had an answer.

When he was about 14 months old we went out to eat, he choked on a piece of popcorn, and aspirated it into the lower lobe of his left lung.   He had surgery to remove it 3 days later.   (see how it went?   EVERYTHING became a BIG DARN DEAL.)

When he was 18 months old, a routine MRI showed he had something called an Arnold Chiari brain malformation.   This means the back part of his brain is being pulled through the opening in his skull.   He had a big one.   Answers?   Maybe.   Doctors said it could be part of what has been going on with him, but we’ll just wait and see….but they wanted just ONE more MRI to see if his spinal cord was okay.

That MRI showed a tethered spinal cord.   WHAT???   So he had surgery to detether the cord.   It was after this surgery that one of the most scary events of my life happened, and one that magnifies how mito kids are different.   He came out of surgery great!   He was awake and alert….and they gave him some pain meds via his IV so he could rest.    These meds, which are given to kids ALL THE TIME, caused his respiration to slow, and he almost stopped breathing completely.    It is a surreal experience to see a scene from a hospital drama playing out on your own child.   He came through it.  And we learned another powerful lesson about our son…He is a fighter!

From then on, things got easier.   He has still been through a lot.   He’s had 3 surgeries on his eyes to straighten them so he doesn’t see double.   He has ended up in the hospital several times from simple strep to the flu.   Illness affects him differently.    He falls a lot, and has a clumsy way about him.   He is still followed by a team of doctors, although now not as often.   And he still has struggles.  

But he is good.   REALLY good.   And for THAT we are blessed.

Andy turned 9 this past July.   And every time his birthday comes, I think of the time when we wondered how many he would have.   And I look at him and I marvel at the fact that he walks, runs, jumps, swims, and plays.   He talks…a LOT, and he’s very intelligent.   He can run a computer better than I can.   He’s a great kid, and I think because of all he has overcome….he has a kindness in his heart that most people will never understand.

He may stand out a little bit.   He may be a little bit different, but he is one of the best, coolest, and most amazing kids I have ever known.  

So what am I trying to say about all this?   Andy has mitochondrial disease.   Without. A. Doubt.   But he is doing GREAT!   For our family right now, we are one of the lucky ones.   We have known others who have lost their children to this ugly disease.   And for us, the fear still comes because of the unknown.   There is no way to know how he will be affected in the future.   So we watch closely, we pay attention to things that others may not notice, and we continue to advocate for our son.  The fear is held at bay, but we are always vigilant about keeping him healthy.

I love you Andy!   More than you will EVER know!

So, if you want to know more about the disease that Andy fights, and our family had to learn about, please visit the links below.  

Read.   Learn.   And share.