Patients Have Power: Breakthrough Research and Clinical Trials

Disclosure: This piece has been entered in the Patients Have Power Writing Contest run by Clara Health designed to raise awareness about clinical trials. I am passionate about this cause and hope it will help raise much needed awareness about the power of breakthrough research. Please forward and share this blog post. 

Manny will be 9 in a few weeks. Never thought that would happen. Afterall, at 11 months we were told he wouldn’t live to see his first birthday.

We went home from that hospitalization with a DNR (Do Not Resuscitate) order, something parents should never have to complete and an appointment for hospice.

Babies shouldn’t die. But they do.

To our amazement, Manny turned out to be a fighter. In the past 8 years, he’s fought sepsis (more than once), multiple complicated surgeries, painful procedures and unspeakable loss. Yet Manny is resilient. And so is the human spirit. His will to live, not just be alive but to LIVE, is beyond most humans I’ve ever met. 

If he’d died 8 years ago, he’d have never been to Disney World or Universal Studios. He’d have missed going on an Alaskan Cruise where he saw countless humpback whales. He’d have missed going to the Colorado Rockies (twice) where he would meet a moose, elk and fox in the wild.

And without Manny, the world would have missed out on one of the most amazing spirits that has ever been born. Funny. Talented. Gifted. All in a body that is continuing to fail him.

Manny was born with an ultra-rare form of Congenital Muscular Dystrophy – LAMA2 (formerly known as Merosin Deficient Congenital Muscular Dystrophy). When we made the trek from Tampa, Florida to Bethesda, MD to the NIH, the doctors said he is the most severe form of the disease they’d ever seen. And that was at the age of 2. 

People who meet Manny have two wildly differing experiences with him. Some people meet Manny and can see past his disabilities to HIM. And for those people, he will often comment, “He noticed me.” Manny will reward those people well with gifts of song or joke or silly story. He has the uncanny ability to get anyone to do anything for him almost instantly. I’ve seen many grown people suddenly finding themselves in a dance battle or playing monster trucks with him. One man was so moved by meeting Manny and his resilient spirit that he gifted our whole family (8 people) a Disney World annual pass. All because Manny was just being himself.

Then there are those who look at his outside often immediately feel sorry for him. He’s in a wheelchair. He’s drooling. He needs help moving his arms and legs. His hands are turning inwards. All his joints are stiffening.  He needs bipap to breathe. He’s hooked to machines to feed him. His neck cannot move. His eyes are stuck gazing forward. All because he lacks the laminin in the muscles. 

And it's not just the patient themselves who are affected. There's a whole family trying to be strong together. We have become part of a "club" where no one wants to belong. 

This is a progressive disorder with no known cure or treatment. We just lose him piece by piece.  We are keenly aware at how any little respiratory bug could be “the one” which triumphs over him. We are torn between keeping him safe in a proverbial bubble and letting him live despite the risk. We choose the latter. And live he does!

It’s not until I see video of him from years gone by that I notice just how profound his losses are sometimes.  And yet I’ve rarely seen Manny ever feel sorry for himself. It happens. But it’s quick and justified. 

Recently, he’s been talking about Heaven. A lot. About how he will get to run and play and eat and carry heavy things. These conversations are hard and freeing at the same time. 

Truth is: Manny has an incurable disease. There are researchers around the world working on clinical trials to find a cure or a treatment. They are working around the clock to understand the intricacies of the human body. They are unlocking the DNA codes and mysteries. I’m grateful for brilliant minds, keen observations and dedicated patience it takes to do this kind of work. 

I'm also aware that the cure won’t likely come within Manny’s lifetime. It’s why I am so dedicated to answering every survey that comes my way. We participate in every trial we possibly can. We travel far and wide for testing. We are registered with the relevant databases. We encourage others to do the same. Upon his death, we will donate some more tissue to be studied. 

Patients often feel powerless with incurable diseases. But Patients Have Power. Maybe not for our loved ones sometimes, but for those to come. I dream of “One day” … there will be a cure.

These are sobering thoughts. They’re not ones I ever share with anyone. But when I saw the www.clarahealth.com topic on Breakthrough Research and Clinical Trials, I knew I had to share his story. Because Breakthrough Research and Clinicial Trials aren’t sexy. They aren’t done for fun. But they are also not done in vain.  They’re done for people to have cures and better lives.

They’re done for people like Manny.