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!