There are moments in our lives that define every aspect of every day for the rest of our existence on this earth. For us that day was the day our son, Maximilian Patrick was diagnosed with the #1 genetic killer of infants and toddlers. A disorder we had never even heard of, Spinal Muscular Atrophy. We were told the words no parent ever wants to hear…there is no treatment…there is no cure…we cannot tell you how much longer he will be with you.
Maximilian Patrick High was born November 14, 2006. The doctor called his delivery a success and
pronounced that we had a healthy baby boy.
We brought our little guy home and other than encountering the typical
struggles of first time parents, sleepless nights, acid reflux, and a
deployment when Max was 6 weeks old everything looked great and our future
appeared bright and hopeful.
I remember noticing something wasn’t right about the time Max
turned 3 months old. He didn’t seem to
be moving his legs as much anymore and would rarely reach up. When I expressed my concerns both my friends
and family thought I was just being an over-anxious first-time mom. Then at 5 months when Max began to lose more
function and I became increasingly worried, I was told he was a boy and was
lazy. I remember in my heart knowing
that something wasn’t right. At the age
of 7 months while on a routine trip to Max’s pediatrician the doctor found my
fears to be well-founded. We were referred
to a physical therapist and sent for an MRI of the brain. The MRI results came back normal and we all
breathed a sigh of relief. He began
physical therapy at about 8 months with the diagnosis of a low tone baby and
was expected to recover his strength with intensive therapy. After approximately a month and a half of
therapy there was no improvement and we were referred to a genetics doctor. The geneticist admitted Max to the hospital
where a battery of tests were run and we were introduced to a pediatric
neurologist.
On Sept. 27th of 2007 Max was “given” the diagnosis of
Spinal Muscular Atrophy. Our entire
world came crashing down as the neurologist explained the disease. The nurses immediately helped to gather our
stuff and get us home where we could try to begin to comfort ourselves. The next couple of weeks were such a daze,
informing our families, telling Aaron’s commander, trying to learn as much as
possible about this horrific disease. There was not a lot of positive
information out there. We quickly became
members of Families of Spinal Muscular Atrophy and began to network with other
families. We discovered there was hope,
with the proper care children are living much longer, fuller lives.
We were hoping the days of needing nursing care for Max were far
away. We celebrated his first birthday,
then Christmas, and tried to make life as normal as possible. When Max was diagnosed Aaron and I made the
decision to treat each day with our little guy as a gift. We defined a new kind of normal for our lives
and determined quality over quantity was our new motto. All of this changed on March 29, 2008. Max had been dealing with some minor congestion
for a couple of days and by Saturday night the congestion had worsened
significantly. At midnight Max began
choking on his own mucus and we rushed him to the Medical University of South
Carolina Children’s Hospital emergency room.
They were able to clear out his throat and were prepared to send us
home. My husband and I just gawked at
the doctor. Max did not have the
strength to cough and was not able to clear out his airway. We did not have a suction machine at home to
continuously keep suctioning him out. If
we took him home he would surely aspirate on his mucus. The doctor decided that our argument made
sense (due to the rarity of the disease many doctors are not familiar with
protocol for SMA respiratory illnesses) and admitted him to the hospital. They had to suction him multiple times over
the next several hours. The next morning
with our home health care company set to deliver a suction machine to the
hospital for us to take home we prepared to leave the hospital. Before the suction machine arrived Max’s
oxygen levels started to drop and they discovered a collapsed lung. He was transferred to the Pediatric ICU and
after 2 days had to be placed on the ventilator. No parent wants a doctor to come in their
child’s room to discuss end of life plans, but that was what began
happening. The doctors were not hopeful
for a recovery. They decided to go ahead
and pursue placing a gastrointestinal tube (g-tube) for feeding, as they believed
that some of his problems were associated with losing his swallow and he had
fallen very behind in the weight charts.
We were in the hospital for 1 month, with Max on a ventilator for almost
2 weeks. Max was released from the
hospital with the g-tube (no mouth feedings), Bi-pap (used for breathing at
night to give him a break), cough assist (basically forces a cough), and a
suction machine.
So what does a day in our lives look like? Everyday my husband and I are met with the
challenge of meeting Max’s needs medically, physically, and mentally. We are
not only parents. We are Max’s
caregivers, respiratory therapists, physical therapists, and nurses. Everday Max
must rely on a strict respiratory therapy regimen. It involves two 45-minute respiratory care
sessions consisting of a nebulizer treatment, followed by CPTs (chest physiol
therapies), then followed up with his cough-assist and finally the suctioning. If Max is experiencing any level of
congestion then this increases to five times a day. At night, Max uses a bi-pap machine to help
him sleep – otherwise he would have to work unnaturally hard to keep his oxygen
levels up. Max relies on his G-Tube for
all his nutritional needs; because of his acid reflux the feedings must be slow
and carefully monitored. All this
equipment must be cleaned and maintained daily. In
addition, Max receives four therapy sessions a week in the home. On the days that he doesn’t receive “formal”
therapy it is up to my husband and I perform the exercises. Max needs to be stretched at least three
times a day to prevent contractures (irreversible stiffness) in his muscles and
joints. Now let’s not forget Max’s
intellectual needs. With the help of his
speech therapist we are currently working with Max on eye gazing to make
choices. We are also working tirelessly
on trying to get him to speak. Given his
extreme global weakness Max is unable to play independently and requires us to assist
in the manipulation of his arms to turn pages in books, play with puzzles, and
color with markers. Recently, we were
blessed with nursing care provided through our insurance company. Max now has two full-time nurses that assist
in his care.
Everyday, SMA
attempts to rob our family of joy, and some days it succeeds. We cry, ask why, and try to place blame. Then we look into the most beautiful smiling
face in the world and know. Nothing, not
even this horrific disease can take away our hope. We hope everyday for more time, good days,
and one day…a cure.
Thank you for
taking the time to read our story. For
updated information please keep up with our family through our blog. We will be truthful and some days that may
not be easy for us to write or easy for you to read, but it is Max’s reality
and our families’ reality.
