Every story is a reason to keep going

Congenital Muscle Dystrophy (CMD) is a new road for our family. Our son, Finn was diagnosed at 14 months old, on November 18, 2020, with SELENON/SEPN1 Related Myopathy. To say we were shocked is an understatement. Like many, there is not anyone in my husband’s or my family who has any (known) genetic disorders, but in hindsight, Finn started showing signs from the beginning. We immediately immersed ourselves in research about SELENON, we started talking to doctors, joined research studies, you name it! The one thing that we kept hearing over and over again, was that because this disorder was so rare, money to support research was minimal. During a time where we felt helpless, our family decided fundraising would be a great way to support all with SELENON and also allow us to feel like we could start making a difference for Finn.

What began in December 2020 as a simple call for help quickly became something much bigger. A year-end social media campaign brought together friends, family, and supporters from around the world, raising more than $25,000 for SELENON research. That outpouring of generosity led to the first Swings for Finn Tournament in July 2021, which raised over $80,000 and showed us the power of a community united by hope. As support continued to grow, we founded Giving Strength two years later to ensure this momentum became a lasting force—one dedicated to advancing research and giving families affected by SELENON-RM something they are too often denied: hope for the future.

Every dollar truly makes a difference. What once included only a small handful of researchers has now grown thanks to all of the support from this community, with dedicated researcher actively working on SELENON-related myopathy across the United States and Europe. Even so, continued support is critical—progress toward a treatment is possible, but only with sustained funding. Efforts like this take a village, and Finn is incredibly lucky to have so many amazing people rooting for him and for a future treatment. We are deeply grateful to everyone who has supported this work through donations, volunteering, advocacy, and prayers. Giving Strength Inc. will continue pushing forward—fundraising, advocating, and supporting research until meaningful treatments become a reality.

Our son, Max, was diagnosed with SELENON/SEPN1 Myopathy when he was 6 months old. As first time parents, we were entering an entirely new world, but we sensed early on that something was off. Max was unable to lift his head, had hypotonia and wasn’t hitting the typical milestones. We began working with a physical therapist and took him to see a neurologist. The neurologist thought he was exhibiting signs of torticollis, but decided to order a neuromuscular genetic panel to rule out all other conditions. Two weeks later we got the results and were devastated to discover that Max had this extremely rare disease. It was heartbreaking to learn that he would not outgrow these weaknesses and that navigating his care would be a lifelong challenge full of countless unknowns. Neither side of our families has had any known genetic disorders and it was a shock to learn that both my husband and I were recessive carriers of this ultra-rare genetic mutation.

Our family immediately began researching everything we could possibly find about SELENON and met with specialists, scientists, and other families dealing with Congenital Muscle Dystrophy (CMD). It has become increasingly clear that the scientific tools and methodologies exist for discovering highly effective treatments that could significantly improve the lives of all impacted by this disease, however this work needs to be driven by parents, families, and loved ones. We quickly learned that pharmaceutical companies would not profit from investing in ultra-rare diseases.

We are currently working toward collaborating with a biotech company in hopes of initiating a large-scale drug repurposing screening that would target any pre-existing drugs that may effectively deflect the symptoms of SELENON, as well as raising funds to support, and expedite, gene therapy research. We are incredibly hopeful that with all of our efforts, fundraising, and support from our community we will be able to find a treatment for SELENON and potentially other related myopathies.

Since I was a baby, I have always had SELENON, had mild but noticeable symptoms, but it took 13 years to be diagnosed. I experienced shortness of breath, weak neck control, fell a lot, couldn’t run, and lost weight easily. My first medical diagnosis was scoliosis at age 10. Wearing a back brace suffocated me and unexpectedly sent me to the hospital for two months. After overcoming pneumonia, a lung collapse, and 3 surgeries, doctors started testing me for neurologic and muscle diseases. At age 13, I was finally diagnosed with muscular dystrophy and at age 18, I was diagnosed with SELENON.

It’s been 17 years since my medical trauma and every year I am learning and adapting to new things. From biannual checkups at the MDA clinic to respiratory checkups every two months, and everything in between, I am on top of it. My weakened core muscles took the biggest hit therefore I require invasive breathing assistance via trach tube when fatigued, lying down, and for sleeping. My weakened breathing muscles have made it hard for me to clear my airways therefore I’m very susceptible to lung infections. I was never able to run and always had difficulty with stairs and walking long distances. I can dance and walk still, but this varies based on my breathing difficulties and fatigue. After having a spinal fusion, my scoliosis has given me the least discomfort, as long as I am careful. Every day neck pain, occasional shortness of breath, and digestive issues have been my newest challenge.

The perseverance from me and my family has had to be constant. I dealt with a lot on my own for years, and my family and friends have supported me to continue to get the care I need. I believe sharing our stories can go a long way for another family seeking diagnosis and support. I hope that by continuing to share our stories, further educating ourselves and medical professionals alike will go a long way. Everyone deserves to be heard, believed, and treated with care.

I hope to see more support, research, clinical trials, and treatment. I’m hoping for a better future while also hoping we have comfort and care in the present!

“I was diagnosed at 6 months old with Spinal Muscular Atrophy. That was in 1959. It wasn’t until two weeks ago that I found out I have what my doctor called Selenon-associated congenital myopathy, which is the same disease as Finn. My neurologist had never seen it before so he had to search for information on the disease.

My wife, Jess and I live in Lebanon, Ohio, which is just outside of Cincinnati. I was born in Milwaukee. In 1969, we moved to Gadsden, Alabama then to Cincinnati in 1972.

I work for GE Aerospace on software to control jet engines. I’ve been there 43 years. I went to college at Rose-Hulman Institute of Technology.

Obviously, I’ve dealt with this disease a long time. When I was growing up, I did most things kids do. I was just weaker than other kids. I rode a bike and learned to swim. My parents were not protective of me, for which I’m very grateful.

I wore a leather helmet when I was a toddler but after that, nothing special. I would fall sometimes but by letting me be me, they allowed me to get the most out of my muscles and to be confident in myself.

As long as I was growing, I was stable. During college, I started very slowly losing strength. I walked until I was 28, then got a scooter. I drove a normal car until I was 31, then got an outfitted van. I worked in the office until I was 36. Over Christmas break in 1994, I developed a plan to work from home and became GE Aerospace’s first remote worker. GE ran the plant network to my house. There was no Internet as we know it today.

I’m sure you’ve read that scoliosis and respiratory issues are common. I had a spinal fusion from scoliosis when I was 16. I had congestive heart failure when I was 17 and 18 because the cast then the brace restricted my breathing. I’ve used a ventilator since I was 18. First, it was just for breathing treatments, then I slept on it, then in 2003, I got pneumonia that led to pneumothorax and I became ventilator dependent and bed-bound. I’ve been that way for almost 20 years.

It sounds like I had a lot to deal with, and it was, but my parents raised me to be confident in myself and my ability to deal with life. I was fortunate to be fairly smart and I got a good education. I read voraciously and still do. I’m a very calm person so people like me and want to help. My GE family has been the reason I’m able to keep working.

The one thing I do know about the disease is I won’t die from it. The secondary effects are the problem. I will be 65 in July (2023) and I am an example of what can be done with determination”.

I was born and raised in California where I still currently reside. I am the last living individual with SELENON within my family. I am the youngest of 5 siblings, 3 of which had SELENON and have since passed away at the ages of 17 (Eddie), 17 (Javi), and 37 (Patty) years old. Me and my family’s journey has been long, strenuous, and traumatic, but it has equipped us with the eyes to see people in a more compassionate way every day of our lives, and with the tools to stand up for ourselves and others. I want to use my story and my sibling’s stories to bring more awareness and understanding of SELENON and the Muscular Dystrophy community in general.

I graduated with a Bachelor’s in sociology and in psychology. Since the age of 17 years old, I have volunteered for nonprofit organizations. More than my disease, I am daughter, an aunt, a wife, and a dog-mom. I draw, paint, write, do photography, play the piano, play video games, create videos, I can recreate props, and I fight hard every day to live my life to help others.

I have been grateful and inspired by my older SELENON siblings; because of them I have a better quality of life than they did. I believe that I am proof things can be better, it just takes being seen, listened to and fought for. Doctors learned from my siblings, and were able to take preventative action on me sooner. I have survived longer than my two brothers, and I have been able to remain ambulatory unlike my sister Patty by the time she was my age. I fall easily and often, I can’t get up from the floor myself if I fall, I have a hard time walking, I can’t go up steps or curbs without a ramp and railing to hold on to, I have to use a ventilator when sleeping, I have a g-tube, and I use a nebulizer and cough assist at home.

My condition has taken me on a path that I’ve had no choice in being on, but I have discovered that although I am not able to change the general path my condition has taken me through, I have been able to at least mold it in a way that lets me feel like a human being, like myself, and reminds me how enjoyable life can be despite my difficulties and differences. Having so many obstacles and limitations in some areas of my life has given me the drive to never stop learning and growing in the areas I do have control over.