We choose HOPE

Hello to those of you that read this post.  Its been seven months since I last updated our family blog.  These months have been a blur mostly... so much has happened in such a short period of time.  And until now... I simply haven't had any desire to communicate with the outside world. 

Three weeks after my last blog post, my father was diagnosed with an inoperable brain tumor.  He passed away October 14th.  He was (and still is) a huge part of our lives.  Mason's middle name is "Robert" - named after my father who adored him and did everything he could to help us and encourage us during the initial months of Mason's diagnosis.  They had a special bond - one I really can't describe.  My dad saw more potential in Mason than I could during the hardest days that started this year of 2012.  And my dad also wept for me during the hard moments when I was sleep deprived and too stressed to cry.  I remember the night before Mason's feeding tube surgery - talking to my dad on the phone when I realized that he was crying because he was so concerned about the challenges Mason had ahead of him.  I am so blessed to have had such a compassionate, thoughtful, faith filled man as my father.   My dad had a motto that he lived by and even the final weeks of life, when someone would ask him how he was doing his response was always the same:  "Living the Dream".  His family was his dream... and so we must press on.

THANK GOD... Henry & Mason are doing quite well...

• After 13 months of speech therapy - Mason started talking in early July.  All along the words were probably swirling around in his head but he is finally able to form audible words with his mouth.  He has a long way to go but we are so excited about the progress he has made already.  Henry and Mason have also become more bonded now that Mason is able to communicate.

• Thanks to Hammond Drysuits, located in the UK, we were able to have a custom Hickman Drysuit made for Mason.  He looks like Aquaman in the suit and it takes two adults to actually get him into it but he was able to enjoy the pool on our first family vacation this summer.   
 

• Henry started Kindergarten in the fall and loves school!  We are so excited to hear all about his day when we pick him up.  He seems more grown up all of the time and he continues to inspire us everyday with his kindness towards his brother. 

Our Newest Challenges

Just when we think we have things figured out, life throws us a few more curve balls...

• Mason is currently in his fifth body cast.  The casting is definitely correcting the curvature in his spine however the doctors have warned us that (because of the disease) his spine will worsen the moment we stop treating it.  In February, he will transition from body casting to a 23 hour hard brace.  The brace will give him a "break" from casting and will allow him to take a bath each day during the one hour he has the brace off.

• We also experienced a lot of trips to the emergency room during December.  Two different sets of stitches needed on his head due to falls and one dislodged mic-key button - all in three weeks!  Needless to say, he is back in his helmet full time now:)  This child is seriously aging me... it will be a miracle if I am not completely grey haired by 40.  

• While we are so glad that Mason is finally using words, we didn't realize how hard it would be to respond to things like "I go home" - when we are at the hospital or "cast off" when he is tired at the end of each day.  We didn't plan on fighting with him at night when its time to wear his oxygen tube and his feeding tube.  So now we must navigate these very valid frustrations.

• Aaron has been the most amazing, supportive husband I could ask for.  He continues to show me more grace than I deserve most days and he is an amazing father too.  God has answered a long standing prayer for Aaron this year - he was recently offered a Brand Manager position with Kimberly Clark.  After a long career with MillerCoors, he has decided to accept this exciting new opportunity and will be starting his new role in 2013.  This also means that we will be moving AGAIN but we will be moving home near family so we are certain that the moving insanity will eventually be worth it.  

As for me, 2012 has absolutely been the hardest year of my life so far.  God is working on my hard places, chiseling me, making all things new...grief is the most indescribable pain I have ever experienced.  It's like this monkey on my back... always there.  I started the year of 2012 grieving the life I had imagined for my family and now ending the year grieving the loss of my dad.  Ironically, the latter has helped me realize how truly blessed I am for this life God has given me.  This year God has really been teaching me that I am not in control - he is writing the story.  I never pictured my life this way... but I also don't want to take for granted how amazing this life story is. 

A wise lady a church recently taught me that HOPE is the "confident expectation that good will come".  So we are focusing on HOPE these days... and very much looking forward to 2013 and all that God has in store for our family.  Best wishes to all of you for a HOPE filled New Year. 

Thank you for reading this blog and caring so deeply about our family! 

Here Comes The Sun...

May and June went by in a flash.  Many of these days were VERY LONG... and others passed too quickly!

1. Henry turned 5 years old on May 30th!  He is pretty proud of this new number and reminds me everyday of this major milestone.  His birthday celebrations were plentiful between preschool, my family and Aaron's family.  He was spoiled rotten as usual but in the end the thing Henry wants more than anything is time and attention - FROM EVERYONE, EVERYWHERE!!!  So while the gifts and cards were great... he still really just wants a stage and a huge audience :)

2.  We also completed our first overnight trip away from home during Memorial Day weekend.  This was a pretty big deal for all four of us mostly because we have not traveled anywhere overnight in the last four months besides Mayo Clinic.  We figured out how to pack and travel with the oxygen, pulse oximeter, feeding pump, etc.!  Lots of gear to drag along but in the end it was totally worth it.  We had a fantastic visit in Appleton with "Grandma Colleen, Grandpa Davison, Uncle John and Daisy".  They all spoiled us rotten with great food, lots of laughs, golf for Aaron and a pedicure and shopping for me:)

3. Father's Day weekend was one of the our best weekends too - with the best dad ever.  While Aaron did not get to golf on Father's Day weekend, he did get to play A LOT of golf the week before.  Aaron and I were able to spend FOUR hours out of the house on a date without the kids.  This has not happened in at least 6 months.  It was wonderful!  Hopefully we won't have to wait six more months to do that again. 

4. Mason is officially 2 1/2 years old this week and he is doing amazingly well in his first cast.  He is fearless and he longs to keep up with his big brother.  His determination and spunk are what get him through each day.  He is finally saying "Mommy" and "Daddy" and yesterday for the first time ever he actually called "Mommy" from his crib when he woke up.  He is also imitating short words.  While he doesn't understand how to spontaneously communicate yet, he understands a lot of what we are saying to him.   Next week we will head back to Mayo Clinic for more appointments and the application of Cast #2. 

5. Many people have asked how I am doing... the short answer is that I am "fine".  But to be honest... I am getting there... one day at a time.  I think I am finally passed the stage of being totally pissed off about this experience.  Or maybe its just that I am tired of being bitter.  While I know that God has big plans for me and my family, I am still grieving the life I had pictured for our family of four.  I am quite certain that God's plans are MUCH BETTER than whatever I had planned in my head.  But right now, the days feel so long.  There are lots of funny moments... but they are still long days.  It feels very awkward to write this... to say it out loud.  But I feel its important because I think there are many mothers out there that are afraid to admit that they are mad or sad about the challenges that come with their special needs child.  I plan on sharing more about this topic as God continues to work on my heart...  

Wishing you all a happy, healthy and safe 4th of July! 

Our Second Trip to Mayo Clinic: Cast #1

We’ve been home about two weeks and Mason is doing pretty well in the cast.  Our latest trip to Mayo Clinic turned out to be far more important than we realized for a few different reasons… 

Sleep Study - On the first night (4/24) Mason had a sleep study done.  The sleep study was ordered to monitor Mason’s breathing, oxygen levels, sleep patterns and brain waves.  Many children with neuromuscular diseases also suffer from breathing related issues during sleep.  If you that have never had a sleep study done – let me just say this was rough.  Mason had over 40 different electrodes glued to his body – mostly to his head.  It took the technicians 45 minutes to glue down the electrodes and Mason screamed like hell the entire time – I have never seen him more afraid.  As a parent I have also never been more unprepared – it took all of my energy to be strong in front of him.  Once the electrodes were glued down, it was pretty late at night and THANK GOD Mason fell asleep quickly.  Here is a photo of Mason with the electrodes – just before he fell asleep.

 

The sleep study results were quite interesting.  Mason’s frequent movement during the night is way out of the normal range for children his age.  Also – the study observed “brain pauses” wear he stops for too long before taking the next breath.  During these pauses, his oxygen levels dip into the 80s until something triggers him to take the next breath.  About half way through the study, the techs decided to give him oxygen and immediately things calmed down for the rest of night.  Mason’s body movements were minimal and his oxygen levels were normal. Therefore, the doctor prescribed oxygen for Mason during all sleep times.  Its been two weeks since the oxygen tanks were delivered to the house and we are getting used to all of this.   Mason is sleeping much better now and we have not noticed any of the sudden coughing/choking spells anymore either.  He has also been very tolerant of oxygen tubes in his nose.  Little kids adapt so fast... moms take longer though :-)

CAST #1 

Mason’s first cast was put on April 25^th – the first two days were rough but as soon as we got home, he saw his toys and wanted to get right back to normal life.  He continues to amaze us.  He is able to walk pretty well in the cast on a good day.  When he falls he cannot get up without assistance.  On bad days he can hardly make it three steps before falling.  We haven't been able to figure what triggers the "bad days"  sometimes things just switch at the drop of a hat and he goes from being super weak to pretty good.  The cast weighs about 3.75 lbs and he went from wearing 2T clothes to 4T clothes in the cast – mostly because it comes up so high on his shoulders and its also pretty wide around his waist.  The cast already stinks but we have discovered a lot of new ways to keep him clean and as sweet smelling as possible:)

     Genetic testing is complete and the doctors have determined that the DOK-7 gene mutation is responsible for Mason’s Congenital Myasthenic Syndrome.   The doctors at Mayo Clinic have only seen about 25 cases of this genetic mutation and Mason is one their youngest patients with DOK-7 mutation confirmed.  Now that the doctors have confirmed the genetic mutation we can start Mason on a specific drug that many other DOK-7 patients have experienced great success with.  

     Thanks to everyone for your continued prayer and support.  Overall we are optimistic above Mason's future but each day has its challenges and right now we are handling everything on a day to day basis.  Except for Henry's Birthday which is in two weeks.  Henry has been our rock - he handles everything with such compassion.  He knows when we all need to laugh and he also knows how to tell us when he is feeling ignored or left out.  For all of these reasons, I am probably going to buy Henry a pony for his 5th birthday...  but that would be one more thing to clean up after so maybe a Nintendo DS would be easier.  We'll see!

One Giant Thank You Note

Asking for help is very difficult thing for some people - my husband and I definitely fall into this category.  We are much more comfortable jumping in to help other people - family, friends, strangers, it doesn't really matter.  However, asking for help is a whole other story... we wait too long before accepting offers of help from those closest to us.  I am not sure why... maybe its just hard to be vulnerable in front of other people.

Anyway, none of that really matters anymore because over the last six months we have had to get a lot more comfortable with asking and receiving help.  I am so very behind on Thank You notes too...  so this is one big Thank You note to all of you!

Thank you to Grandps - I am not sure who you have spoiled more - Henry or me with all that you have done for us in the last three months!  P.S.  If you haven't tried Grandps' Swiss Steak... its fabulous:)

Thank you to our parents and family for their prayers and phone calls.  Thanks for watching Henry and helping with whatever we need.

Thank you to Erik and Cristi for helping us so much with Henry and for calling as often as you do just to see how things are going.  It means more than you will ever know.

Thank you to Eileen for taking the time to drive two hours and spend the day at the hospital with Mason and I during our most recent casting trip.

Thanks to Curt for taking so much time to get our house in such wonderful shape.  Thanks to Angie for loaning him out so much lately too! 

Thank you to all of our Willow Crystal Lake friends - your friendship, prayers, smiles and kindness have made this entire journey so much easier.

To my girl friends in Crystal Lake that have filled my freezer with meals - thank you!  You have no idea how much that meant to me and how little time I have had to cook the last few months.  Thanks again!

To my new friend Axi - thank you for the beautiful pictures of our family.  Thank you for hugging me, for really seeing me... when most days I really feel invisible.  You are an old soul... and I cherish this quality so much in other people.

Thank you to all of our extended family and friends from high school, college, work, Plover, MillerCoors,  Accenture, United Way, etc - that have reached out to us with emails, phone calls, texts and facebook messages.  Each time someone reaches out to offer their concern means so much!

Our Trip to Mayo Clinic!

It's been a busy two weeks for us and so much has happened! I feel older, wiser, more tired and very sassy... a dangerous combination for motherhood. Perhaps this might be a problem for my husband too... oh well.

Our trip to Mayo was excellent and we learned a lot. Mayo Clinic is an amazing place. The staff are so patient focused - its really like nothing I have ever experienced before. We were so blown away by the doctors and nurses, the facilities, the art and all of the people that travel from all over the world looking for medical answers.

1. Mason was evaluated by three different neurologists. They ordered a smattering of tests and concluded that his diagnosis is correct but the medication is wrong. The majority of patients diagnosed with CMS respond well to Mestinon. However, this drug is actually making Mason weaker!!! So the doctors told us to stop giving him Mestinon immediately. Its been almost two weeks since his last dose and we have seen some positive changes. Mason is hardly drooling at all and when he tries to climb stairs he is no longer dragging his head. He is still weak but the quality of what he can do when he feels good is much better since we stopped the Mestinon. Its been a treat for me as well - since I don't have to constantly watch the clock - waiting to give him the next dose.

2. Based on the test results, the neurologists at Mayo have a pretty good idea of what gene mutation is likely responsible for Mason's condition. They gathered samples from Aaron, myself and Mason and they are currently working to confirm their hypothesis. They have warned us that this could take months. They have also warned us that they could be wrong... and if that is the case they will have to look at other possible genetic mutations. If and when they can determine what gene is responsible - at that point we can determine what other drug therapies might be possible to help Mason with strength, energy, speech and feeding.

3. Mason was also evaluated by the Orthopedic Team at Mayo Clinic and those results were not as positive. We learned that Mason's curve is much more severe than we originally told. In Chicago, all of his x-rays were taken in while he was laying down. The doctor at Mayo informed us that Mason needed to have an x-ray while standing up in order to clearly see his curve. Therefore, his curve is actually 60 degrees! Not good news since he is only two years old. The doctor also explained that right now Mason's ribs are growing into his spine and that if we do not aggressively treat the curve right now - his lungs will be affected next and his pulmonary function will be affected if the curve progresses beyond 70 degrees.

So what do we do now? They have recommended that Mason be casted as soon as possible. Its taken us two weeks to get used to the idea but of course we are moving forward with the casting process. We will be traveling to Mayo Clinic every other month from now on for casting. I'll write more about this as we go. Based on all of the research and information we have received so far - this spinal casting thing is going to be a real doozie. Mason will be set in a cast that will go from his hips up over his shoulders. Each cast will last 60 days... and he cannot get it wet... which means no baths. Yuck!!!

Maybe we will all give up bathing for awhile...

G-Tube Update

Thanks to everyone for your prayers, emails, texts, phone calls, etc. We are so blessed to have so many people rooting for our family! Mason's G-tube was placed 10 days ago and he is doing very well. His tummy was quite tender for the first week because the procedure was done through his belly button. However, over the last few days he has been acting more and more like himself and is no longer taking pain medication.

Getting used to all of this will take awhile... there are so many parts and medical supplies are scattered throughout our house right now. The doctor has recommended that we feed Mason through his G-tube at night - over a twelve hour period. So far, we have had a lot of leaks and tons of laundry to do. However, last night was the first night that there were no leaks!!! So Mason woke up with dry clothes, dry sheets and a very full belly.

One of our current challenges is cords at night - Mason wears a night brace that is pretty constricting but will hopefully help correct the curve in his spine. However, he must also wear a pulse ox sensor on his toe while he sleeps - so that we can monitor his breathing in the brace. The feeding tube that runs to Mason's g-tube is six feet long. These two contraptions together make it difficult to relax while he sleeps. He still manages to twist and flip around so much that we need to check on him frequently during the night and untangle him as needed. I wish I could find a solution to this problem but so far I have not found anything. If you are reading this and you have a suggestion - feel free to let me know!

Next week, we will be at Mayo Clinic in Rochester, MN. This will be our first visit to Mayo and we are very excited. The Pediatric Neurologists at Mayo Clinic are among world leaders in research studying genes involved in congenital myasthenic syndromes and developing cutting-edge therapies to treat congenital myasthenic syndromes.

The picture above was taken about two weeks ago before the g-tube surgery. Henry is in charge of turning on the Pulse Ox machine at night for Mason... these brothers were really made for each other :-)

Nesting Mode...

Two weeks from today, Mason will be having a gastrostomy tube (G-tube) placed in his stomach. Mason's therapists and neurologist have been hinting at this for awhile but we finally made the decision last month after meeting with a nutritionist and pediatric gastrologist. Although, Mason can swallow - his swallow is weak. A year ago, he could drink a six ounce bottle in one feeding. But now on most days, he can only do about 2-3 ounces before tiring out and needing a break. The low muscle tone throughout his body is most significant in his head, neck and trunk. Therefore the process of eating and drinking is pretty exhausting and since it takes so much energy for him to eat or drink - he burns a lot more calories doing these activities than most kids his age. For all of these reasons, he has gained only a few ounces over the last six months and most days he is not consuming enough liquids to maintain proper hydration.

So right now, we are in nesting mode... making preparations for the surgery, making plans for Henry and getting things around the house organized so that we can minimize the chaos and clutter when we come home from the hospital. The procedure itself is only 30 minutes but Mason will need to stay at least one night (possibly two) so that the first supplemental feeds can be done after the G-tube has been placed. Once the feedings are going smoothly we will be able to go home. And then the fun part starts :) Feeding tubes are actually not that complicated from what we've been told and all of Mason's care team has told us that we should see a big change in his energy level once he is getting the proper nutrition he needs. We are excited to see the weight gain and the new energy that this feeding tube will bring Mason over the next few months!

For more information on G-tubes - click on the link located on the right side of my blog page.

Good Days vs. Bad Days...

Since many of you don't see Mason very often in person, I thought it might be helpful to post a few video clips comparing good days and bad days. If you are reading this blog because your child has CMS, you know what I am taking about...

Here is an example of good hour (I say this because there are days when I think Mason is having a "good day" and then things suddenly change) - Mason and Henry dancing after dinner in the living room. Mason is OBSESSED with music and musical videos. So if you are looking to cut a rug, stop by our house on a good day and you'll have two dance partners :)

And then there are the bad days... days when all Mason wants to do is sit on the couch and watch TV because he is too weak to get around. This video clip shows Mason trying to get up from the floor... on a good day he manages to do this all on his own. But on bad days, he cannot get up without assistance. In this video clip, you can see that Mason is trying hard to get up... but he simply cannot do it...