In Honor of Rare Disease Day

In Honor of Rare Disease Day

By Lauren Stephens, CEO and Co-Founder of Dudley Stephens

When my longtime Dudley Stephens co-worker and friend, Jennifer, reached out to let us know of her son’s recent diagnosis of Duchenne muscular dystrophy, I felt an awakening; the fog of quarantining and Covid lifted for a minute, and I could see clearly. I realized that life is still happening around us: the good, the bad, the really, really hard, the amazing, the beautiful, the happy … it is all still happening.

My next thought was for how much admiration and love I had for Jennifer and her family; how much they must have been through in receiving this diagnosis, how incredibly heartbreaking it is for a mom to have to get that phone call, and how strong she has acted in the face of this journey. She has been nothing but courageous, positive, and determined. Traits that one can only hope they would tap into be when faced with a challenge such as this.

In honor of Rare Disease Day today and to raise awareness around Duchenne muscular dystrophy, as well as the many rare diseases that children are diagnosed with daily, we asked Jennifer some questions below about Charlie, her family, and how she’s navigating during this time. You can read more on her blog and in this recent article written on the Handt family.

Can you explain what Duchenne muscular dystrophy is for us in the most basic terms?

It helps to think of it like a typo in the gene that keeps our muscles strong. Normally when we exercise, muscle fibers get broken down and then repaired—that's what builds strength. That process is fueled by a protein called dystrophin. In Duchenne, the "typo" in the gene makes dystrophin difficult or impossible to produce, so when muscle gets broken down it's lost permanently. Over time, that causes catastrophic loss of function, and since the heart and diaphragm are muscles, eventually Duchenne causes heart and respiratory failure, too. The disease impacts one in 3,500 boys, so it's rare—but if you think about it, not so rare at the same time. I've already met the most incredibly fierce, kind and yes, funny (because humor is medicine) moms in this community!

We’d love to also hear about any medical breakthroughs that have occurred recently, or that are on the horizon – it seems from what we’ve read so far, there is hope for kids like Charlie! Tell us a bit more about those breakthroughs?

I'm not exaggerating when I tell you we are in the middle of medical history in the making! There are five gene therapy candidates in trials, which we hope to get Charlie into when he is eligible (typically starting at age 4)—those deliver a smaller version of dystrophin into the muscle and are showing promising results. That can slow the disease and buy us some time for other promising gene editing options such as CRISPR to mature. Meanwhile, there are many other medicines in various stages of development that attack the disease from different angles—muscle cells, heart function, etc. A very wise mom who's been advocating for many years said to me, think of treating this disease one baby step at a time. Take the next option in front of you, then the next, and before you know it all these baby steps will pile up and amount to a pretty nice life for Charlie!

What can we do to help raise awareness around Duchenne, and other rare diseases?

It means so much to have a community of supporters around us—it truly fuels our strength! All we can do right now is raise awareness and help fund research, because while there are so many promising possibilities out there, it will take more time and work to drive them home into the clinic for all of our boys. Any help getting our story out there (curecharlie.org, @cure.charlie on Instagram) is very much appreciated, because you just never know where support or connection will come from. And as parents, we can all help educate our kids about differences, including those caused by Duchenne and other rare diseases.

Self care is obviously something we all have on our minds during this difficult time, how are you taking care of yourself throughout all of this?

As moms, we all tend to put our own needs last, but I've pretty quickly realized I need to make sure I'm balancing Charlie's needs, my work and "regular" parenting of Charlie and his older brother, Henry, with some sanity preservation for myself! I try to make sure I stay in a positive and hopeful mindset by actively searching out uplifting stories or positive news. When I was going through infertility before Henry was born, I participated in a mind/body program where I learned how easy it is to fall into a spiral by believing the negative nonsense we tend to think, especially during hard times. So I try to apply those lessons I learned by focusing on positive mantras like "I am doing everything I can to help Charlie." I try to move my body in an intentional way at least once a day (thanks to our colleague Tory I have plenty of inspiration!). And at night I try to step away from the computer and do something that doesn't require a lot of mental energy. My husband and I have been actively seeking out laughter with comedies. Shout out to Kristen Wiig for coming out with a new and delightfully absurd movie ("Barb and Star Go to Vista Del Mar") just when we needed it most.

Photo by Sydney Sheehan

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