welcome to DuchenneXchange

- a positively charged Duchenne muscular dystrophy community.
  • join today!

Don’t Live the Diagnosis, Live the Life

Don’t Live The Diagnosis, Live The Life

For those of you who don’t know me, my name is Sheryl Marrazzo. My husband John and I have a 17-year-old son named Jake, who lives with Duchenne muscular dystrophy. Yet, despite this difficult diagnosis, Jake lives a very full and positive life. In fact, I’m proud to say that John and I do as well, but it hasn’t always been this way.

John and I learned of Jake’s diagnosis shortly before his 8th birthday. We were totally shocked and absolutely devastated. There was no history of Duchenne in our family, and prior to Jake’s diagnosis, we didn’t even know what Duchenne was. Like most parents who suddenly find themselves in this sort of situation, we resorted to Dr. Google to learn more about the disease our son had just been diagnosed with. It was the worst thing we could have done. We read that he’d be confined to a wheelchair by the age of 12 and was unlikely to live beyond his early 20’s.

Needless to say, John and I had a good cry that night. We spent the next few weeks throwing ourselves a pity party. However, we eventually realized that we could be sad for years, but feeling that way wouldn’t do anything to help Jake. We also recognized that if we continued focusing on the bad things in our lives, we’d miss out on so many amazing things. The way it happened is strange, but Jake’s diagnosis actually made us realize that life is short, but not just for those with Duchenne – for everyone.

That realization had a profound effect on our lives. From that day on, we became dedicated advocates and made a commitment to live our best life. We formed a team, which we named 4 Jake’s Sake, and took to social media to make our voices heard. Our social media presence grew, and our efforts were noticed by Pfizer and CureDuchenne.

In 2018, Pfizer and the Boston Globe featured Jake in a piece named, Dear Scientist. The article focused on Jake living his best life and highlighted his love for being on stage despite being in a wheelchair full-time. Jake also wrote a letter to Jane, the scientist leading Pfizer’s gene-editing program to tell her about his life. The hope was that she would share Jake’s letter with her team and that it would inspire them in their quest to cure disease. We had the opportunity to meet Jane, and we remain friends to this day.

I believe the most joyous thing you can experience as a parent is your child finding his happy place. If you’ve ever seen Jake on stage, you know he’s found his home. The other performers on stage with Jake seamlessly choreograph him right in. It’s as if they don’t even see the wheelchair. He’s had many fantastic roles, including the opportunity to perform as the Genie in Aladdin, Franklin D. Roosevelt in Annie, and, most recently, Smee in Peter Pan.

Pfizer reached out to us again this past January. I received an email asking if Jake would like to be on the Dr. Phil show! Well… HECK YA! The producers of the show asked us to make a quick video for Dr. Phil to introduce ourselves and say a few words about our life. That led to a number of interviews on the phone, followed by several hours of video recorded at our house with a full camera crew – including hair and makeup stylists. Those several hours turned into a one-minute video that played while Jake and I made our way to meet Dr. Phil. Everyone in the audience, which included John, was clapping so loudly for us as we took the stage. Seeing Jake’s smile and knowing how happy he was, was easily the best and most rewarding part of the experience for me. The segment was about 5 minutes long, and we did it all in one take. Initially, the episode was scheduled to air in March, but it had to be delayed because COVID-19 forced the studio to shut down all production.

The day we had been anxiously awaiting finally arrived yesterday! It’s incredible to think about the millions of people across the globe that we were able to reach with our message because of our appearance on Dr. Phil. The response we’ve received from everyone has been incredible! Our phones and social media are BLOWING UP!

Our entire experience in LA was so absolutely wonderful. We took in all the studio tours where we met the most amazing people. We continued to advocate for Duchenne while making lifelong friends along the way.

After you watch the video, I think you’ll agree that Jake is a fantastic speaker. Jake hopes to use his talent to inspire other kids with Duchenne to live their best life by sharing his message – Don’t Live the Diagnosis, Live the Life.

I’m grateful our family learned the importance of living our best life. That’s exactly how we plan to live each and every day we have left… shouldn’t you?


Dr. Phil: Teen Says Duchenne Muscular Dystrophy Has Not Slowed Him Down