It’s been years since I’ve blogged
anything. I even forgot that I had a profile on Blogger. Anyway, let me get
right to the purpose of this blog entry, my son, Jonathan Rizzo.
Let me start by saying that Jonathan
was diagnosed with a terminal disease called Limb Girdle Muscular Dystrophy
Type 2C (LGMD2C), on May 12th 2017. My heart and mind go numb just
writing that.
Here’s the story, throughout
Jonathan’s early childhood years, my wife and I didn’t see any signs of any physical
delays (neither did his general doctor). The delays might’ve been there, but
what did we know about Muscular Dystrophy (MD) and the signs? Around six and
seven years old, we really took notice to his inability to run with a fluid
motion, and then difficulties on playgrounds with monkey bars, ladders, sports,
etc. were noticeable. He also started falling more frequently due to the muscle
weakness and on July 4th 2016 he fell face first in the house
busting his lip and both front teeth. As we sat in the ER I asked him if he’d
want a new bicycle to lift his spirit and of course he got excited. He also
thought it was cool that his teeth were busted and he looked like a vampire! (As
he put his hands in the air, raised his upper lip and hissed at me!). The bike
thing didn’t turn out well. A week or so after we got the bike we went for a ride. We didn’t make it but five houses up the street in 30 minutes because he was having difficulty pushing the pedals down, there wasn’t
enough strength in his legs. This was a first. Can you imagine? It was
incomprehensible because he knows how to ride a bike. All I was doing was
yelling “come on man, you gotta get momentum!” What a fool I am! Looking back, it’s just devastating. In the upcoming month we had our trip to Brooklyn NY and
New Jersey to visit family. We took notice to how hard it was for him to do the
stairs in the train station one step at a time and everywhere for that matter. Before
the trip, Tiffany (my wife) had already made an appointment with an orthopedic doctor,
which was going to take place after we returned home to Texas. This is when we
found out that there was a serious problem.
I’ll say this in my best layman’s terms.
There is an enzyme in our muscles called Creatine Phosphokinase (CPK) that is measured
in units/liters. The normal range is 60 to 400. Jonathan’s was 16,863! This shows
that his muscles are deteriorating and that we now have to find out what is
causing the muscle breakdown. The first prognosis was Duchenne or Beckers MD
and a genetic (DNA) blood test was issued. Almost 4 months later we received
the results and it was negative! Duchenne is known to be the most progressive
form of Muscular Dystrophy and let me tell you, a deep breath was taken!
We started seeing a new doctor, Dr. Castro (an amazing neurologist) at Scottish
Rite hospital here in Dallas and had another genetic blood test done. Dr.
Castro’s prognosis was limb girdle MD (there’s many subtypes, impossible to know which one without the test). This one took a
little bit longer, around 5 months. So, 9 months from the CPK test to this
point was May 12th 2017 when the LGMD2C was confirmed. LGMD2C can be
just as progressive as Duchenne and is very rare so it was extremely heart
breaking and life shattering to hear the news. When we first learned of
Jonathan’s diagnosis, Tiffany and I started searching the
internet learning all about MD and gathered as much info as we could find (I’ll admit,
my wife did around 99% of the researching because my grief process was a little
more self destructive, unfortunately). For the first 3 or 4 months (maybe even
longer) I could hear my wife sobbing every night in one room while I sobbed
myself to sleep in another room. I know it's my boy that is the one that will
suffer, but the disease affects the whole family.
The disease itself is considered
terminal and there is no treatment or cure, at this time. Some doctors estimate
complete ambulatory loss and wheelchair bound by the age of 15 and life
expectancy is into the early to mid twenties (and again, there’s that numbing,
sickening feeling coursing through my body as I write that). As Dr. Castro told
us, while looking into Jonathan’s eyes “you take one day at a time and do your
best to live well, and with joy, passion, hope and love.” she said more but I forget
and I’m sobbing too hard to remember. It’s just not easy. Anyway…
Since May of 2017 the disease has
progressed and it is so hard to watch, but Jonathan is a warrior! Jonathan goes up stairs one-step at a time and on an angle to keep his legs as straight as possible
for leverage, or he will crawl up. Either way it is extremely slow-going for
him and very difficult now. By the end of a day the fatigue is extreme and
climbing the stairs is just not an option. For now we carry him upstairs to his
bedroom every night. The insurance company denied our request for a stair lift
and the physical therapist at Scottish Rite said it like this (not that she is
siding with or against the insurance company), “the harsh reality is you need to think about moving to a one story home.” He did receive a customized manual
wheelchair, which we use when we have a lot of walking to do. There is so much
more going on with this story. And yes, Tiffany and me need to entertain the
thought of moving but it’s not happening any time soon that I can tell, well maybe
it is.
With that said, there is medical hope
on the horizon. If you don’t mind sparing 9 minutes (more) of your time, you
can watch this video explaining a few medical options (which is gene therapy
and exon skipping). https://www.kurtpeterfoundation.org/about-us/ Jonathan will be part of a
clinical trial in 2019/2020 for gene therapy (a possible cure! Please consider donating). THIS IS HUGE!
In this New Year we have bitter-sweetly
pulled Jonathan from public school and have started homeschooling him. We
believe it is in his best interest. His fatigue level at the end of the school
day kept him from other activities in which he loves. Now he’s doing schoolwork
from the comfort of home (or wherever!) during times when his energy level is at its best
performance, and it is affording him plenty of time to get the proper rest his
body needs.
Jonathan is very involved with a
children’s theater production company (ages 8 to 18) named Shine, where he
performs, and learns about acting. Right now he is in Fiddler on the Roof as a
Rabbi’s son! For the most part he’s happy and enjoying his life. The disease is
his normal and he doesn’t focus on the things he can’t do, rather he just focuses
on the things in which he can do. Another doctor from Scottish Rite said to
Jonathan, “Don’t let the disease define you. Muscular dystrophy is just a part
of who you are, and you are so much more than muscular dystrophy.” I love that!
Well, from the depths of my heart I thank you for reading this, I know it is long. There is so
much more I’ve left out that I want to write about but then I’ll be going down
a rabbit trail way off the point. There are all my concerns for Jonathan’s
future. Where will his finances come from? Where will he live? How will he be
able to survive without Tiffany and me to take care of him if he is bound to a
wheelchair? He doesn’t have any siblings and we have no family near us in
Texas. Most of the friends he had in our neighborhood have left him behind;
although I believe he will make new friends. It makes my heart ache for him.
But it doesn’t faze him (too much). And he does have friends outside of where
we live! And then, there are all the things I need to do for him now? We have
to start the process for a power wheelchair. I need to look into alternative
health care and disability grants, or whatever it is that he will need. See, I
started down the trail. Lest I be anxious! I’ll write more another time, for
another blog entry, on another day. May you be blessed and know that we are all loved by God!
