World Duchenne Awareness Day 2014

In celebration observance of World Duchenne Awareness Day, I thought I would tell the story of how we figured out Sam had DMD.  It's a long story - but I don't think it's ever been told:

It all started when Sam was a baby.  He always had this sideways tilt with his head right from birth.  I was told it was Torticollis and that it would go away with tummy time, stretching, blah blah blah.  It didn't go away until he was about 1 - which is late.  Every time I would bring it up to the pediatrician he would say "he's a boy, boys are slower developing than girls....DON'T WORRY, he's fine".  Then I remember flipping through Caroline's baby book and noticing she hit her milestones WAY earlier than Sam ever did.  Like, Sam wasn't even sitting up on his own until he was about 10 months old.  Strange, but again, the doctor said he was fine and it probably had a lot to do with the torticollis.  After our first birthday and he still wasn't close to crawling or talking or anything - we went back to the doctor (warning - most of the beginning of our story goes like this: I was worried, went to doc, doc said he was fine and to stop comparing him to Caroline as a baby).....fast forward about a year and Sam is falling constantly - Nick made a joke that "it's always Ash Wednesday in the Stander house" b/c Sam had a bruise on his forehead All.  The.  Time.  He also had a lot of ear infections.  Maybe I should get a second opinion.  

We heard about Early Childhood Intervention (ECI) from my sister and they came out to do an evaluation about his speech/gross motor issues.  For those of you who do not know about ECI and the amazing work they do, trust me.  It's a free service (well, technically I think our taxes pay for it, so it's not really FREE) and they come out to evaluate your child if there are possible developmental issues up to age 3.  Mr. Steve came out and agreed that his speech was delayed, probably because of the ear infections and recommended having hearing tests done.  Sam LOVED Mr. Steve, and he came to the house every other week to work with us on speech for about a year.  On our last visit (b/c Sam was turning 3) he said something to me that I think about a lot - he said "Sam is going to be fine.  I think you need to go see a neurologist though to make sure nothing is damaged b/c of the chronic ear infections".  I made an appointment with an ENT to get a hearing test.  He passed, we got tubes, and things started to turn around.  Within about a month, Sam started talking.  And running (not gracefully, but he is related to me so running would require a tiny bit of athleticism).  Sure, he was slower than the other kids, but who cares, right?  Okay - so maybe he won't be the star athlete in high school, but he's fine.  The doctor said he was fine.  

My sister, Kim, is an Occupational Therapist and my best friend, Victoria, is a Physical Therapist.  Between the two of them, I would call and ask questions or see if they could take a look at Sam - I probably drove them crazy.  Something wasn't right, but I couldn't figure out what.  They both evaluated Sam and suggested PT and OT because he was so delayed and his muscles seemed kind of weak.  We also switched pediatricians b/c we had moved into the suburbs and driving to the med center every time someone was sick was stupid.  We also switched b/c Dr. Don kept saying Sam was fine, when he clearly was not.  We went to PT/OT for a year and every now and then I would ask his therapists "do you think there's something else wrong?" or "do you think he's autistic?" or "what are your thoughts on cerebral palsy?"  They aren't allowed to answer those questions b/c they aren't doctors, but they knew.  I knew, but their silence was reassuring that it was nothing serious.  I was trying to cling to something that I could understand and I just didn't understand what was going on with Sam, but something was going on.  It was possible, our new pediatrician said, that because of the chronic ear infections and delayed motor skills, speech, etc - that the fluid behind his ear drums could have caused some neurological problems.  (There's that neurologist recommendation again, one year later).

Because of the way Texas Children's Hospital (TCH) and all of the pediatrician offices around Houston work, we had to see our pedi, get a referral, then wait to get a call from TCH Central Scheduling to set up an appointment with a specialist.  6 months!  I'm not kidding.  The waiting list to get in to see the neurologist at one of the most prestigious children's hospitals in the world was 6 months.  Well thank God he's not dying, I thought....

Before our appointment I found the original referral from our pedi - in the notes section she wrote "could this be Muscular Dystrophy?"  What the hell is "muscular dystrophy"?  Is that like MS?  What does she mean?  After googling, the past 3 years flashed instantly in front of me.  That's it.  I had never in my life known anyone with MD.  Nor had I even heard of DMD.  That would soon change.  We saw Dr. Fernandez the week before Thanksgiving in 2012.  After a thorough exam, he told us "I don't think this is neurological at all, but let's do some blood work".  We left there feeling so good.  Thankful.  Humbled that our son was going to be ok.  4 weeks later the other shoe dropped - Dr. Fernandez called to say Sam's CPK levels were "high" but it could be nothing.  Then he said something odd - "I made an appointment with you to see Dr. Lotze in the Muscular Dystrophy Clinic".  Here we go

The rest of the story you all know.  January 11, 2013 at 3:15PM.  My son has Duchenne.  He's going to die from it.  It's so strange to be in a situation like this because as parents we are supposed to be able to fix things for our kids.  And I can't fix this.  The only thing I can do is ask people to join our fight so Sam and other boys don't have to die.

So happy World Duchenne Awareness Day.  It's a day that hopefully won't be recognized much longer.

different.

For the first time since Sam being diagnosed with Duchenne, I realized that he knows he's different.  We went to a friend's birthday party last Friday at one of those indoor play places (like Chuck-E-Cheese's, but way cleaner and with no pizza), so I knew it would be a challenge for him.  There was no way in the world he would have missed his buddy Nathan's birthday party.  Not only was it a challenge, but it was a complete shit show.  He got leg cramp after leg cramp.  We tried resting.  We tried hydrating.  He just couldn't keep up and do the physical climbing and running and jumping.

As I was sitting in this room with all these parents and their normal kids running past us, I massaged his legs as he cried.  Real tears fell down my son's face (and mine) because he knows.  And as I told him over and over how sorry I was that he wasnt feeling great, he asked why his muscles have to be sick.  Why did God make him that way?  Why didn't his friends have sick muscles?  Then he said it: "it's not fair, mommy".  It isn't.  He's right - it isn't fair.  It sucks.  I swear you could have heard my heart break.  I don't know why he was chosen to go through this.  It makes him so special and I try every day to make him understand that.  I hate it that he's different.  I hate it that he knows he's different.  I hate it that his friends had to see him crumpled up on the floor because he couldn't get up or walk because his muscles just gave out.  I had to carry him, like a baby, to the bathroom and hold him up so he could pee.

He stared out the window of the car all the way home, tears running down his face and saying he had fun when I know he didn't.  I can't even explain to you how helpless I felt.   

In a couple weeks he's going to feel even more different - he's going to start wearing leg braces to school.  Every day.  I can't imagine how that will make him feel.  He has no idea how kids can be so mean and I just hope, with all of my being, that his friends won't treat him differently or damaged.  

Patrick Thomas is here

First Day of School!

Better late than never...

August 26th got here so fast.  Monday morning was crazy busy: I had to get ready for a doctor appointment (my last one! but that's another post), be up at the school 45 minutes early for the first PTO event of the year, get the kids ready an hour earlier than I normally would, and take the official first day of school photos (because I didn't trust Nick to remember to take them) (because I like to take them) - ALL before 7:15.

The kids bounced out of bed well before their alarms were set to go off.  They must have been excited about finally getting out of the most boring house of the summer, where their mother was too uncomfortable to do anything fun with them and where they froze their butts off!  They got themselves dressed, fed and ready for school all before 6:45 - which is completely unheard of.  I waited until the sun came up to take the official back to school photos.

My big girl 3rd grader! 

Cannot believe this little guy is in Kindergarten!  

Everyone had a great first day and we are very happy with both kids' teachers.  Finally, both kids are at the same school!  Kindergarten gets out an hour and a half earlier than the rest of the school, so I still have to sit in two car lines in the afternoon, but for now at least drop off is all together.  

the end....

So - I've got 2 weeks left.  Maybe even less if this pregnancy keeps careening downhill like it has the last month.  I'm now 38 weeks and miserable.  I have the same condition I had with the other 2 pregnancies - Gestational Thrombocytopenia (yeah - and I spelled it right the first time I typed it).  It's a platelet issue that causes my platelets to drop during pregnancy.  It's more of a pain in the ass than anything.  All it means is there's a possibility I won't be able to get an epidural if my platelets get too low.  Then there's the Gestational Diabetes that, as it appears, I have given myself with all the face stuffing food I've consumed.  Everyone acts like it's completely unacceptable to eat 1/2 a gallon of ice cream for dinner, seems perfectly fine to me.  So, I've been checking my blood sugar 5 times a day.  Can hardly eat carbs or sweets and am now on the strictest diet ever.  I'm DYING without carbs.  I can literally feel the weight coming off because I'm starving!  But, I did lost some weight.  I also have to go in for fetal non stress tests.  Evidently that's normal procedure when you're fat and have no self control diagnosed with gestational diabetes.

To recap, I can't eat anything good, I have to drive down to the med center for a 20 minute test twice a week and I might have to give birth to a baby without drugs????  What. The. Hell.  There are no words right now...

The good news is that the end is near, my friends.  Every time I see my doctor, I beg and plead to get this over with as soon as possible - I'm not above bribery either.  It doesn't work, but her office staff has been on the receiving end of some bad ass cupcakes that I, of course, can't  eat.

I'm starting to get a little anxious about having another baby.  Almost like first time parent jitters.  I had to ask my friends with new babies the stupidest questions the other day.  For example - How long do I burp a baby?  I haven't done that in years, I don't remember.  Do you stop when they're a few months old?  Until they stop using a bottle?  Drawing a blank.  And labor - terrified this time.  No reason - just scared.  I know I've got this.  It's like riding a bike, right?

I'm also starting to get nervous about having a healthy baby.  My "Nick and I are healthy people, there's no reason to even think that something could be wrong with our child" theory on the last kid was GROSSLY underestimated.  I'm kind of waiting on something to go wrong now, because something already did.  I keep trying to remind myself that the odds are really low that Patrick will have what Sam has, but it's not far from my mind.

A few weeks ago I had the sweetest baby shower hosted by my sister and 3 dear friends.  It was at the Tasting Room...and I thought it would be complete torture with everyone drinking wine around me, but it was great.  It was so nice seeing everyone who joined us and those who traveled from out of town to attend.  If there was any doubt about Patrick's name before that, it's gone now because almost everything I received was either embroidered with his name or had his monogram on it.  I love it!  It was perfect timing too, because I had forgotten about all those little things you need for a newborn - socks and hundreds of onesies because the kid will crap on most everything, burp cloths, bottles, drying racks, swaddling blankets...it looked like the entire store of Babies R Us threw up in my office.  Oh, and those little things called diapers - totally forgot I needed those.  Pics from the shower...

My awesome hostesses 

Bestie!

St. Mark's friends from the city! 

Traveled in from Dallas to celebrate.  And made the cutest blanket and lovey to match P's room 

Best PCB's ever!  Kelly was here all summer from Florida visiting family/friends, but it makes me feel better to think she came in just for this. :)

(what is up with my hair here?  a heads up on the do would have been nice)

We have been VERY busy getting ready for our newest family member.  Every room upstairs has been moved out of, repainted, moved back into by someone else and then redecorated.  I seriously think we've done more to this house in the last 3 months than most people do to their houses in a lifetime.  Feels good - but we're tired of the mess that goes with the DIY projects.  For a few weeks, every item stored in each closet of the house was out and in the middle of the floor upstairs.  I had to create a walking path just to get from room to room.  We ended up throwing so much away.   No more "...well, I guess if I keep this I'll use it for _________..."  Nope.  I'm sorry, but if we haven't touched it since I put it in the closet 4 years ago when we moved in, then it's going in the trash.  Pics of all the kids' new rooms...  Still need to hang some stuff on the walls.

Caroline's new room.  PS - that's the dresser I refinished.  This room used to be the guest room.

Patrick's room.  This was Sam's old room.  The bedding is, of course, back ordered, and probably won't be here by the time P gets here.  I'm trying not to stress about it.

 

Sam's new room.  This was Caroline's old room and it used to be HOT PINK!  

Took forever to repaint it green.  

Pigeon Forge, TN...long overdue post

Shortly after school ended (told ya it was really late), we rented a house for a week in the Smoky Mountains with Nick's family.  The trip was pretty uneventful:  No ER visits.  No babies came.  Everyone got out without killing each other still speaking to one another.  No bear attacks (almost - true story!).  Just lots of fun.

Because I crammed everything I could into our suitcases, I didn't bring my big camera.  So, below is our vacation through the eyes of the greatest inventions of the century - the iPhone and Instagram.  Enjoy!

Our home for a week.  It was a really nice house, but we all learned a hard lesson from this trip - pictures online can be very deceiving.  We had a couple minor issues with the house, but it all ended up ok in the end, thanks to my fabulous complaining skills, we got some of our money back.

The Smoky Mountains are so pretty

My bear attack story:  Shannon and Nick went for a run.  I wanted to get out of the house for some fresh air, so since Dave didn't bring running shoes he got stuck walking with the pregnant chick walked with me.  We're walking through the woods on a path and hear this low growl.  It was more likely a badger or something, but a bear makes the story better.  Needless to say, we got the hell out of there as fast as we could.  Can't tell you how long it's been that I moved that fast.  So there you have it - Dave and I were almost eaten by a bear.  

So serious. 

Went to Dollywood.  Learned something new about Caroline: hates roller coasters.  She stuck pretty close to mom and dad at this place.  She didn't mind at all riding the smaller rides with her little bro at all.

  

Again, serious concentration driving the cars.  He really thought he was in a race.

Everyone went whitewater rafting.  Sam included - and if you know Sam this was a huge step for him! He's in the adult boat at the front.  Nanny took really good care of him and found out the hard way that he doesn't like it when he's wet or dirty.  

Did some sight seeing around the cabin.  Right after this picture was taken, Caroline lost her flip flop and it went floating down the stream.  Also noteworthy in this picture: the sound of the running water made everyone have to go to the bathroom so we didn't stay long...  I got a few pictures of the girls trying to pose around Caroline doing the "pee-pee dance" - I'm sure she appreciates me sharing that with everyone 

Went to the Dixie Stampede to celebrate Sam's birthday.  Maybe I can hope by his 6th birthday that he will learn to look at the camera...His favorite part of the dinner?  Eating with no utensils.  Everyone had to pick up their food and eat with their hands like they did in the frontier days.  It was interesting and very entertaining.  A little advice if you ever go - bring a flask, evidently Dolly Parton doesn't drink.  Ever.  And neither should you.

Caroline went zip lining!

...so did Gia!

Went hiking up one of the Smoky Mountains.  Surprisingly, it didn't put me into labor.

Our last day.  

We all had fun and it was good to get away and relax.  Probably won't do it next year, because of the baby.  That adds a whole new level of excitement I'm not prepared for.

6 months

6 months ago.  It seems like yesterday we were sitting in a small exam room at the MDA clinic at Texas Children's.  It was the day our world turned upside down.  We knew it was bad when we caught a quick glimpse of Sam's CPK levels on the computer - 19,000.  That was bad.  I remember staring at Sam's neurologist and being mad at him for having to tell us the worst news a parent never wants to hear.  How could he say that?  Then after he told us, he kind of fell to the background and the room was filled with people.  A child life specialist took Sam to let him play.  Counselors came in.  Social workers were there.  An MDA representative was there.  It was so dream-like, it didn't feel real.  We were completely different people when we left the clinic that day.  How could we ever be happy again knowing what Sam has to go through?

Fast forward to today and it still hurts.  It really doesn't get easier.  At least, not right now.  We force ourselves to have happy days because we have no choice.  We have to make every day the best day ever for Sam.  And for us.  We have bad days too, more than we used to prior to January 11, but it's a slow process.  There's still a lot of crying in the shower or while driving alone.  Duchenne consumes our daily lives.  I can now honestly say that when I'm explaining DMD to people, I can get through without crying.  There might be a little bit of eye watering, but I no longer make people extremely uncomfortable by sitting down and sobbing on them.  I think my hardest moments, as someone who is now a DMD parent (the worst club in the world), is that no one understands.  Our parents don't understand.  Our siblings don't understand.  Our friends don't understand.  Feeling like we've been dumped on a deserted island comes with the territory, I suppose.

Other hard moments come and go when friends or even acquaintances tell me "I've been praying for Sam".  I love that people we hardly know take time out of everything that is important to them to pray for us.  But some days a prayer isn't enough.  Some days I don't want to hear that - I want you to find someone to save my son.  Obviously it's not rational.  The reality is having hope and prayer is the only thing that anyone can do.  It's all we, as his parents can do.  Trust me, no one has prayed harder than I for some kind of mistake or to just let me take Sam's place in all of this.  At this point in this process, faith and prayer only goes so far with me.  If I can't touch it or see it, it's not going to help us today.

Some challenges we've faced in talking about DMD is that people think we're talking about MS.  Or that people immediately dismiss this like Sam has the flu or something.  This is a very real, horrible disease and there is nothing that anyone can suggest to make it go away.  Explaining to people that there is no cure seems baffling to them.  Nick and I read an article several months back about a dad whose son has Duchenne.  He wrote these words like he was looking right at us:  "having a son with DMD is like watching him drown and not jumping in to save him".  Our son is drowning and there's nothing we can do.  That is exactly what this is.  Recently, we met a couple whose daughter has diabetes.  And I was jealous!  I can take diabetes over this any day.  As horrible as what I'm about to write sounds, wishing Sam had cancer crosses our minds frequently, too.  At least then we could fight, it would be awful, but he'd have a chance.

In an effort to keep Sam healthy and as safe from injury as possible, I have come up with, at times, the most ridiculous house rules.  Sit on the furniture correctly (well, this one is pretty normal).  Slow down.  Always be really careful.  Bedtime is strictly at 7:30 (the steroids make him super grouchy and sleep is the only thing that helps).  Don't touch each other while running or playing.  Everyone off the stairs while Sam is on them.  There are more, but you get the gist....I hate myself for being this person!  If he starts crying, I have no idea why and so I assume the worst immediately.  I've always been wound a little tight to begin with, but DMD has pushed me to a whole new level of crazy.  Play dates at our house are definitely not the same anymore.   I worry that this will start to effect my friendships.  Who wants to go hang out at the crazy lady's house? - no one most likely.

Nick and I are seeing a grief counselor.  She is really helpful.  She has listened to us cry, and get mad, and (start to) learn to accept this.  As wonderful as she is, she has admitted that she has no idea what we are going through.  She's helping us be good parents, be good children and stay a solid couple all while grieving.  And it's not easy.  No one knows better what I am going through than Nick; and vice versa.  She's helping us see that this isn't just happening to us.  It's happening to our family, our friends, Sam's teachers, Sam's friends, the community.  Which is why, I like to think, people don't say much more than "I'm sorry".  Or in most instances, utter silence - not a phone call or an email.  It's hard for them too, and learning to understand that has been tough.  We were told it's very important for Sam to form close friendships early on.  It's easier for his friends he's known for longer to know that while his body is getting weaker, he's still Sam.  He's still their buddy, just now he's slower, or eventually, in a wheelchair.  We have had a lot more friends come to the house to play in the recent months.  Love hearing him play with his friends (and not just playing with sister and her friends).

Speaking of Caroline, she is such a caring and concerned sister.  It didn't take long for her to grasp the whole picture.  She checks on him at night.  Helps put his leg braces on when we have babysitters.  Tucks him in his bed after us.  She recently started talking to her friends about it.  Which is sometimes concerning because she tells them EVERYTHING - then you see the look of horror and confusion on the friends' faces.  Once I figure out what they're talking about, I usually interject with "We really don't know what's going to happen" or "We hope really soon there will be a cure".  It's ok to talk to your children about Sam - he knows he has a muscle disease.  He doesn't know the end result of the disease yet, but there's no need to tell any young child that.  Caroline just happened to figure it out.  Unfortunately, it won't be too much longer until Sam starts to question why he's different.  It's a day I think about all the time.  It breaks my heart that one day soon Nick and I will have to confirm that to him.

Nick and I have been to every website about Duchenne.  I know more than I care to admit about genetics and statistics.  We've listened to every drug therapy web chat.  Researched government funded health plans and clinical trials.  It feels like a job just trying to keep up with the breakthroughs and news that comes out about DMD.  Some of the news we find is encouraging.  Some of it is not.  We have to have hope that before Duchenne takes over, there will be a cure.  It's all we have.  We have hope and time on our side.  For right now steroids, nightly leg braces, vitamin supplements, therapy and physical activity help keep him as strong and physically capable as possible while we wait.  

Thank you to everyone who has supported PPMD or MDA.  Your donations are touching.  Your kind words and love help us on the darkest days.  Your prayers are always appreciated.  Your friendship is irreplaceable.  I hope my yearly update will have some happier moments and more news that will help Sam and all boys with DMD.