In West Hartford, Connecticut, 11-year-old Lucas can often be found at his DJ controller, blending beats as a dedicated emcee and Daft Punk fan. When he isn’t practicing his sets, he’s usually with his cat, Aleister (aka “Sweetie”), hanging out with his cousins, or playing Roblox. His mom, Monica, says he’s “fiercely independent,” a trait that has carried him through a decade of medical challenges.
Lucas lives with the rare congenital muscular disorder Nemaline Myopathy (NM). NM causes significant weakness in the skeletal muscles and can impact the ability to walk, swallow, or even breathe without help. There are currently no effective treatments.
The Journey to Diagnosis
From the beginning, Lucas showed difficulty eating and gaining weight, followed by an ALTE (Apparent Life-Threatening Event) where he stopped breathing at 2 1/2 weeks. Then with time in the hospital, it was low muscle tone, swallowing issues, aspiration and obstructive sleep apnea that led to a muscle biopsy that ultimately gave them the diagnosis of ACTA1-related Nemaline Myopathy.
The start of Lucas’s life was a blur of hospital rooms and rehab facilities. “It was scary not knowing what this diagnosis would mean for him,” Monica recalls. In those early months, Lucas relied on a tracheostomy tube and a ventilator to breathe, and a G-tube for all his nutrition.
Finding Freedom in the Water and Beyond
The family eventually found their rhythm, learning to manage the heavy equipment and supplies while working to make sure Lucas didn’t miss out on a thing in life. He eventually weaned off the ventilator during the day and learned to walk. Last year, at age 10, he reached a major milestone: his trach was removed. “He was finally able to learn to swim!” Monica says.
Today, Lucas lives a full life— skiing in the winter, swimming in the summer, and traveling everywhere from the West Coast to Europe. However, the physical reality of NM is still there. He uses a feeding tube, a wheelchair for long distances, and a BiPAP machine to help him breathe at night. Because he can’t eat by mouth, going to a friend’s house or a summer camp requires extra planning and supervision.
Monica is candid about the social hurdles, noting how isolating it can feel for parents when others look on with pity. “I always prefer that someone ask me what’s going on with him or show interest vs avoiding the topic or avoiding Lucas altogether,” she says. “These are still kids that want to make connections and play like anyone else”.
Challenging Misconceptions
Lucas also often encounters a common misconception: that NM somehow affects intelligence. “These kids are smart,” Monica asserts. “While Lucas is stubborn or distracted at times, that has nothing to do with him having NM!”.
As a Featured Fundraiser for the Second Annual Nemaline Myopathy Awareness Share-A-Thon, Lucas is helping to fund research that could eventually move him toward the one thing he wants most: independence. While he loves the water, skiing, and adventuring with his family, he tires out quickly, which limits how much he can do on his own. “A successful treatment would allow him to be fully independent and have more freedom to do whatever he wants to do with fewer limitations,” Monica explains.
Building Strength for the Future
The NM community they found through A Foundation Building Strength has been a vital source of support for the family, and they are now asking the public to join AFBS’s mission to find effective treatments for this as-yet untreatable condition. You can support Lucas and the NM community by participating in the Share-A-Thon at whatever level you’re comfortable with:
- Make a Donation to Lucas’s Fundraiser: Your gift directly funds the specialized research teams working toward clinical trials. 100% of individual donations goes to funding
- Create Your Own Fundraising Page: Help us spread the word by creating your own page, setting a personal goal, and sharing with your friends and family!
- Share Our Content: Follow our Share-A-Thon updates on Facebook and Instagram and share them with your network May 18th – 31st. Awareness is the first step toward discovery— and if we reach our goal of at least 500 social media shares, it will trigger a matching gift of up to $25,000!
When asked about their motivation for joining the Share-A-Thon this year, Monica says, “If we can help raise awareness and move closer to a treatment, then we are in!”.
Together, we are building strength.
A Foundation Building Strength (AFBS) is a nonprofit organization dedicated to accelerating the development of treatments for Nemaline Myopathy. Our mission is to fund cutting-edge research to find effective treatments while providing resources and a strong community for families affected by NM. We are proud to be at the forefront of driving Nemaline Myopathy research breakthroughs forward through collaborations with research teams across the globe.
Donate to AFBS: Your monetary gift will support critical research and provide vital resources for NM families.
Stay Connected: Sign up for our email list to receive the latest updates from AFBS and learn more about NM research. Are you an individual or a caregiver of an individual affected by NM? Fill out the AFBS Contact Survey to be connected with valuable resources, support, and research opportunities! Visit our “Get Involved” page for even more ways to connect!
Lucas, you are awesome and you amaze us and make us proud everyday!
Love, Bammy and Poppy
I am reaching out with a sincere request. Would you be so kind as to help connect me with Lucas’s parents? I have a son with an ACTA1 mutation, and I came across their inspiring and successful story. It would mean a lot to me to have the opportunity to speak with them, hear about their experience, and perhaps receive some guidance and support.
Thank you very much in advance from the bottom of my heart.