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 25th
– 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!
