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!