A brother’s life inspires a sister’s journey

The diagnosis comes as a surprise.

My older brother Matt was diagnosed with Duchenne muscular dystrophy (DMD) at the age of 5. We had no family history of the disease, and his diagnosis was quite a shock to my parents.

At the time, my mom noticed he just wasn’t keeping up with other kids his age. He also developed a waddling gait, and he kept falling a lot. When he had stitches in his chin after falling for the fifth time, my mom decided to consult with his pediatrician, which led to diagnosis via a muscle biopsy.

From ages 5 to 10, he became progressively weaker. He could no longer walk up the stairs. Then he needed surgery on his legs to release contractures and to be fitted for braces because he could no longer stand without assistance. Finally, at age 10, he became completely reliant on a wheelchair.

He, of course, needed assistance with most tasks, since he could move his hands and feet only slightly. He need help going to the bathroom, bathing, and eating. He needed a full-time assistant to carry his books in school and to take his notes during class.

Respiratory illness leads to rapid decline

After graduating from high school, he became ill with pneumonia and was hospitalized for three months. He was home for only one month when a recurrent case of pneumonia landed him back in the hospital.

After another month there, he signed a do not resuscitate and asked my mom to take him. He knew he was nearing the end of his life, and he just wanted to be at home with us where he was comfortable.

At the age of 19, my brother passed away, at home, from respiratory failure. I was 15 years old at the time, and it felt like my world had disappeared forever. We were beyond devastated. It felt like everything good in our lives was gone.

‘He taught me how to live life to the fullest’

Despite all his hardships, Matt kept an absolutely infectious positive attitude and never let his disease keep him from doing what he wanted to do.

He was a master at Nintendo games. In fact, no one in our neighborhood could beat him at Mario Kart. It was a goal of mine to someday beat him, but that never happened!

He was also the smartest person in our family. He loved physics, math, and engineering. He wanted to major in computer-aided design when he went to college.

He made me do my homework every day after school before I was ‘allowed’ to watch TV or play video games. He got me through all of my math classes growing up — math was not my forte! He was very patient with me, and he loved teaching others.

‘In his mind, he had no limits’

My brother was an amazing oil painter, much like my grandfather. I can’t even draw a stick figure, but even with the extremely limited movement he had left in his hands, Matt created beautiful landscape paintings. He used a simple piece of metal to hold his arm up so that he could freely move his hand to paint the canvas.

He painted four landscape oil paintings, and he also made pencil drawings of flowers and lighthouses. I have several of his art pieces hanging on my walls. In his mind, he had no limits.

Matt was more than just my brother. He taught me how to live life to the fullest, how not to sweat the small things, and how to be truly thankful and appreciative for every moment I have on this earth. He was the biggest influence on the person that I am today.

It has been 17 years since he passed away, but I still think about him every single day, and his memory always puts a smile on my face.

Understanding carrier status: a powerful tool

When Matt passed away, it was still unclear whether or not my mom was a genetic carrier of Duchenne. I always knew that I, too, was at risk for being a carrier, but after he died, I decided that ignorance was bliss.

It took me 13 years after his death to finally pursue carrier testing. It was one of those things that I knew I needed to find out, but at the same time, I didn’t want to know. When I found out I was a carrier at age 28, I was pretty upset. It felt so unjust — as if I hadn’t been through enough with DMD already!

However, it didn’t take me long to realize that knowledge of my carrier status is a very powerful tool. Thanks to advances in prenatal genetic screening techniques, my husband and I have the opportunity to have our own, biological children without the fear of passing on DMD.

Knowledge helps protect carrier’s heart health

Knowledge of my carrier status potentially saved my life! As a healthy, 33-year-old woman with no symptoms, I would have never thought to get my heart checked. However, I heard that DMD carriers are at risk for developing heart complications, so I decided to get a check-up.

Several standard tests (EKG, Echocardiogram, 24-hour heart monitor, and a treadmill stress test) indicated that my heart was completely normal. It was a normal size, and it functioned as it should. I thought I was in the clear.

However, my cardiologist, who specializes in DMD, recommended that I get a cardiac MRI. That test can show the very earliest signs of fibrosis that appear prior to the development of heart function abnormalities. The other tests are unable to indicate fibrosis until it starts to affect heart function.

Focused testing reveals early signs of heart fibrosis

My cardiac MRI revealed that I do, in fact, have very early signs of fibrosis in the left ventricle of my heart. This is a very typical area to develop fibrosis in carriers of the DMD gene mutation. My cardiologist is treating me with an ACE inhibitor, and with this treatment, I can preserve my heart function and live a normal, healthy life!

Had I not pursued a cardiac MRI and began treatment, my fibrosis wouldn’t have been detected until it had already caused enough damage in my heart to affect its function. Therefore, knowledge of my carrier status provided me with the power to protect my heart from damage. That knowledge is priceless!

Women planning pregnancy should be screened for DMD

I believe all women who are considering pregnancy should get screened to learn their DMD carrier status. DMD is a progressive, fatal disease that will severely impair your child’s health until it eventually kills them in their late teens or early 20s.

With a simple blood test and a little extra planning for your pregnancy, you can protect your child from extreme hardship and an early death. Who wouldn’t want to do that for their child?

If you discover you’re a carrier of DMD, there are so many options available to have your own healthy, biological children that do not suffer from DMD. There truly isn’t an excuse to avoid carrier testing.

3 reasons to get screened

Even if you’re currently pregnant, you should get screened for your DMD carrier status for three reasons:

1) so you can make the most knowledgeable, informed decisions possible regarding your pregnancy

2) you can make the necessary preparations to care for a child with DMD before they are born and

3) so that your heart can be properly monitored throughout your pregnancy via echocardiogram, since DMD carriers are already at a higher risk of developing heart disease, and pregnancy increases that risk.

If every woman were screened for her DMD carrier status prior to pregnancy, and every woman took the extra steps to plan her pregnancies to prevent her children from getting DMD, we could reduce the number of boys diagnosed with Duchenne by 70 percent. That’s huge!

Take it from me: use the tools of modern medicine

Please take it from me, someone who witnessed Duchenne slowly debilitate my brother until it stole his precious life and left a gaping hole in my heart: use the tools that modern medicine has provided. Get screened for your DMD carrier status to give your children the best possible chance of living long, healthy lives. It’s of vital importance.

For more information, please go to www.natera.com/dmd.