Leading up to #RareDiseaseDay on February 28, NORD is sharing stories from patients and caregivers impacted by rare disease. This week, we are sharing Finn’s congenital muscular dystrophy (CMD) journey and his parent’s goal of connecting with others navigating a SELENON/SEPN1-related myopathy diagnosis. If you want to share your rare story in honor of Rare Disease Day, visit NORD’s website.
Congenital muscular dystrophy is a new road for our family. Our son Finn was diagnosed at 14 months old, on Wednesday, November 18, 2020, with SELENON/SEPN1-related myopathy. To say we were shocked is an understatement. Like many, there isn’t anyone in my or my husband’s family who has any known genetic disorders. In hindsight, Finn started showing signs from the beginning.
SELENON-related myopathies are a group of rare congenital myopathies which alter an individual’s ability to synthesize or produce the selenoprotein. In the past, the disease was called rigid spine disorder, as it impacts respiratory function, neck and core strength, and even the ability for an individual to gain weight. Finn is currently being treated by the Kennedy Krieger Institute in Baltimore, MD and has been in physical therapy for a year. While Finn can walk, he has his good days and bad days. He cannot sit up easily on his own and it is very hard for him to bend over and pick items up. Finn also has some serious falls, as he is unable to recover easily due to limited neck and core strength.
There are very few doctors doing research for treatments and the one thing that we kept hearing 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 allow us to feel like we could start making a difference for Finn and others with this disease. We will not stop advocating and fundraising for future research. Our goal is to connect with others to support those navigating SELENON and help this disease become more widely known. SELENON impacts everyone so differently, so any support and hope a community can build only helps the future of the disease.
For more about Finn’s story and to connect, we setup a Facebook and an Instagram page – @letswinforfinn. Thanks to Cure CMD, a NORD member organization, for the support. We are looking forward to building the SELENON community.
To learn more or get involved with Rare Disease Day, please visit NORD’s Rare Disease Day website.