“I am a wife and a boy mom of 2. I often tell people my most refined mom skill is being a sarcasm interpreter. Maybe that’s just my family? My oldest, Connor, is 20 and my youngest, T.J., is 16. T.J. has a rare and fatal form of muscular dystrophy, called Duchenne.
The first time I ever heard the word DUCHENNE was on New Year’s Eve, 2011. The receptionist at a clinic I worked at the time stepped away from the phones, so I picked it up, intending to take a message. I recognized the caller who was a physical therapist at the affiliated hospital. He asked for the doctor. I told him the doctor was off that day and asked to take a message. The therapist said, ‘Yes, have him call me regarding concerns I have over his referred patient I saw yesterday.’
My stomach dropped. I knew. He saw my son yesterday. I pulled it together, chastising myself for being that mom and asked, ‘The patient’s name?’ to which he replied clinically with my son’s name. I have no idea how long the pause was because on my end it felt like minutes. All I remember saying is, ‘That’s my son.’ He simply said – a lot less clinically – ‘I’m sorry, but I can’t talk to you. I need to speak to the doctor.’
I hung up and called the doctor I worked for. Fast forward what seemed like days, but was most likely an hour or so, the doctor called back and this was the first time I heard Duchenne. I also heard, ‘Stay off the internet or it will just scare you. we don’t know anything for sure yet.’
The first thing I did was Google it. Well, I TRIED to Google it, but I had no idea how to spell the dang word. I went on MDA’s sight and searched until I found what I thought was it. As I looked at the pictures and read the symptoms, I knew this was what my son had.
The more I read, the more I started to become numb. I remember reading the average life expectancy at the time was 23. I repeated what I read and knew I was going to throw up or pass out. I didn’t realize I was crying until my coworker gently told me to go home. I hadn’t even realized she had returned.
We waited until February 8th to officially get the diagnosis. We drove to a hospital 2 hours away and met with a doctor who looked at our child, had him walk, stand up from the floor, and less than 20 minutes later he had my son leave the room and say, ‘Well, it looks like you have a Duchenne boy.’ I immediately looked at my husband, pleading with him to look at me because if he looked at me, I just knew he’d figure out how they were wrong. He later told me he couldn’t look at me because he wouldn’t be able to hold it together if he saw the pain on my face.
My husband asked the doctor if she was sure and diplomatically asked her if she could be mistaken. She said there is always a chance and DNA testing would be needed, but she was confident in her diagnosis. We were both numb for days, if not weeks. The numbness seemed to be replaced by anger, like a tidal wave for me.
I was so angry. As is typically the case with anger, it was mostly misplaced. I was angry at the doctor who said, ‘You have a Duchenne boy but here’s a great camp we offer. It’s free!’ I was angry at the physical therapists who had worked with my son for years and hadn’t caught on. I was angry I had to wait over a month to be told my seemingly healthy son is terminal. I was even angry at the OB who delivered T.J. 7 years prior. I felt like she was a liar. She told me he was a healthy baby boy. She told me he was perfect!
The hardest thing to admit was I was angry at God. Eventually, I stopped asking, ‘Why me?’ and ‘Why my child?’ and started asking, ‘WHY me? What am I to learn? How can this be used for good?’
I refused to believe my son’s life wasn’t meant for bigger things than to have Duchenne destroy it. My son is amazing, and I wanted to make sure everyone knew it. I also knew we had to set him up to make the most of his life – however long it may be. It was our job to set him up for success. Most of all, we knew we had to protect his sweet and positive nature. We would not let a disease take his zest for life away from him.
After the numbness of diagnosis started to fade, one of the first things we did was ask for meetings with his teachers, family and anyone else who would play a part in helping to raise our son. We wanted everyone to know what his disease entailed, what he would be facing. We also wanted to make sure everyone knew our son’s disease wasn’t going to be an excuse for him. Yes, he would have medical, physical, and educational special needs, but Duchenne wasn’t going to be an excuse for him to not give this life his all. He was going to be a productive member of society. He was going to have goals. He was going to plan for longevity.
We have been honest with T.J. and his brother since day one. We have explained the disease in ways that have been age appropriate for them. We always want them to know what the disease entails, but we never want them to give up hope. None of us know when our last day on Earth will be. This is why we live for today, even as we plan for tomorrow. We find joy in today, even though we are acutely aware of tomorrow’s possible pain.
We do not minimize the journey our son will have to travel. It will be difficult, and we hate it with every fiber of our beings. We acknowledge whatever feelings they have – be it fear, sadness, doubt or even jealousy – are valid and acceptable. We don’t stay in those negative spaces within ourselves for long, though. We fight to work through them to a place of contentment, joy, and hope. Duchenne cannot take this from us.
We also make sure our boys know everyone has their own burdens to shoulder. We don’t have sole rights to grief and despair. The best way for them to help themselves, no matter their situation, is to focus on others and help their fellow man. That is when you find true contentment.
We know the road ahead is going to be difficult. Every six months we fly out east to see his medical team. Every six months I dread hearing the heart rate function percentages. You see, his heart is a muscle too, and it will be what eventually ends his life. Naturally, I worry about what the doctor has to say, but I refuse to let that keep me from enjoying my son today.
You see, every day my son deteriorates physically just a little more. There are days when we turn around and wonder things like, ‘When did he stop being able to stand up on his own?’ One day we helped him get up off of the couch and didn’t stop. Days, weeks and months go by before we stop and realize he has lost a little more independence while we were preoccupied. And the grieving starts all over again. But we lean into the grief and then work through it. We adapt and adjust. Life goes on.
We also know there will be a day – sooner than any parent should ever have to experience – when life won’t go on for our son here on Earth. I refuse to make light of the moment when the disease will claim him. But we will not wallow in our despair and live in a place of anticipated grief. We will love each other, find joy in the world, and take pleasure in the everyday moments. For this, I guess we have Duchenne to thank. Without Duchenne, we may not have ever learned to enjoy the here and now as much as we do. Without Duchenne, we’d never have experienced the warmth, love and support of so many amazing people in our lives.
My son would not want to be pitied. He doesn’t complain about the infusions, the 18 different medications he takes daily, the clinical trials, the pain, the fatigue, and the isolation that comes with a disease without a cure. He is always worried about others and often says he’s grateful to have such a good life. He is active and is genuinely happy. If there is one thing to remember about my son’s journey, it is you are in charge of your own outlook on life. You are in charge of what your life will stand for. He would want you to remember your life is about quality, not quantity.”
This story was submitted to Love What Matters by Sara Clime from Jefferson City, Missouri. You can follow her journey on her Instagram, Facebook, and website. Submit your own story here and sure to subscribe to our free email newsletter for our best stories, and YouTube for our best videos.
Read more stories about Duchenne’s here:
‘I was giving my son a bath when I noticed 3 little pubic hairs. I got an ominous call from our pediatrician at 6:30 in the evening.’: Mom works to cure son’s Duchenne Muscular Dystrophy, ‘Where there is life, there is hope’
‘I’m lying on the ground crying. ‘I can’t bear this.’ His life will be over before it really begins.’: Mom advocates for son’s terminal illness, Duchenne’s Muscular Dystrophy, ‘Strength is more than muscle’
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