Our youngest son, Jace, is 11 years old with Duchenne Muscular Dystrophy. It is a fatal muscle-wasting disease, and there is currently no cure.
We were given the diagnosis on March 17, 2023 in Austin, TX. The doctor told us at 5:30 PM—closing time on a Friday. All she said was, “I think he has DMD.”
I said, “Cool, what can we do to fix this?”
But then I looked at my husband and saw that he was trying to hold back his tears. He never cries, so I knew that he knew what she was saying was not good. She didn’t really explain much.
We drove home in the front seat with tears coming down our eyes, me still not knowing what this all meant. Our son talked the entire way home, about I-don’t-even-know-what. We didn’t sleep all weekend, and spent the whole entire time Googling (but of course you know how Google medical conditions is). It was devastating.
Two years prior to the real diagnosis, we had noticed that Jace had a hard time walking upstairs and getting up from the ground. Doctors had said that it was probably due to ADHD, or maybe autism, but we knew that that could not be right. After multiple appointments and testing, we finally got an answer… so we thought.
He was misdiagnosed with dyspraxia, and they told us to make sure that we work him out really hard.
We did.
Well, with Duchenne, that is the last thing that you want to do; you want to preserve their muscles, not put strain on it. If only we knew, and if the doctors had known the truth, maybe we could have kept him walking longer. As a parent, I feel a lot of guilt from this. I should’ve tried harder for an answer. Usually, kids with this disease get diagnosed between 3 and 5 years old. We got our real diagnosis when he was 9. It has been 2 1/2 years since diagnosis, and everything has happened so fast. We started heart medication, steroids (which led to weight gain), physical therapy, night boots, counseling, lots of vitamins, and exon-skipping infusions of AMONDYS 45.
Since we have started all of this, he has now become non-ambulatory. We’ve had to buy a wheelchair-accessible van, change things in our home; anytime we’re out in public, we spend time figuring out the best route to get around. Life has changed a lot. There’s a lot of what-ifs, moments thinking “if only we would’ve known sooner,” with a lot of anger I still carry. How can I beat myself up when I had no clue? But it’s hard not to.
Our first year of diagnosis was a blur that I like to call “The Darkness.” I cried for a whole year straight. Everything in life was still going by, yet I was stuck in this sadness that I couldn’t explain or get out of. I’ve always been a happy person with a “Plan A” through a “Plan D” — there’s always a solution!
But not this time.
I shut out work, friends, family, and I just wanted to stay in my home, in my bubble with my baby. I can say it’s definitely a time in my life that I never ever want to be in again. So… dark.
2.5 years now since diagnosis, and we are doing a lot better. I talk about it everywhere I go: I want to share my story and spread awareness. I’ve never heard of this disease until that day of March 17th. I want this word “Duchenne” to be known and talked about so maybe hopefully we can find a cure.
I’m thankful for organizations like the Jett Foundation & Cure Duchenne. I’ve met so many moms from these organizations in our journey, and without their support I’m not sure where I would be mentally or emotionally.
One thing I can say is some of the ladies that I had met a week after diagnosis (they have been in it for many years) kept telling me the same thing: “I promise that you will stop crying and you will find happiness again.”
I kept thinking to myself, No, I will not, you have no idea what you’re talking about and I will never ever smile or stop crying, again. This is my new life.
Well here I am two years later, and the sadness is still there; but it’s definitely not as prominent as it was, and I am smiling again. This is my new life… right now.
This disease takes little things from you, things that you’ve never really even thought about, but all in different stages. So, you get the diagnosis, and then here we are now with him not able to walk anymore, and then one day it will be his arms, then respiratory system, then his heart… and so on. It’s heartbreak over and over and over again. I wouldn’t say that we are 100%, but we are definitely happier now than we were two years ago, and I’ll take that.
Our son has endured so much in these last 2 1/2 years, he is the strongest person that I have ever met. I strive to be more like him. Jace is thriving and he is happy as can possibly be.
And that, I am thankful for.
Editor’s Note: This story was shared with Patient Worthy by Jace’s mother Rachel. If you would like to learn more about Jace and his journey alongside his family, please visit the family’s Facebook or Instagram.
