Meet Audrey, a vibrant 6-year-old girl from Texas who approaches life with a joyful spirit, even while navigating the challenges of living with Nemaline Myopathy (NM). For those unfamiliar, NM is a rare neuromuscular disease linked to mutations in at least 12 different genes (with NEB and ACTA1 being the most common). It affects the body’s muscles, causing weakness that can impact walking, talking, swallowing, and even breathing, with varying degrees of severity.
Living Life with Nemaline Myopathy
Audrey has NEB-related Nemaline Myopathy and is considered to be moderately affected by NM, and while she can stand and walk independently, she faces unique challenges. This bright and engaging young girl enjoys ballet, diving into comic books, and spending quality time playing with her friends. She loves playing with her brother and dancing! Her mom, Kelly, shares that Audrey also has a wonderful sense of humor and a knack for making everyone around her laugh.
While Audrey embraces life to the fullest, NM does present daily hurdles. Kelly explains, “Audrey has a harder time moving around than her peers, tires easily, and needs BiPAP for sleep.” For longer distances, Audrey uses a wheelchair to conserve her energy. Activities that come easily to other children, like running and jumping, are impossible for her, and even climbing stairs or walking the halls of her school requires significant effort. She sometimes needs to work harder to make her speech clear to others. To help manage the effects of NM, Audrey uses ankle-foot orthotics (AFOs) to stabilize her ankles and has a g-tube for extra hydration.
Hopes for the Future: The Importance of Treatment
One of the biggest concerns for Audrey’s family is respiratory health. “Respiratory illnesses, even the most minor colds, can be very hard on her body,” Kelly emphasizes. It’s a stark reminder of the serious health risks that can accompany NM.
For Audrey’s family, the possibility of a successful treatment for NM holds immense hope. Kelly shares, “Having Nemaline Myopathy comes with life-threatening respiratory problems. A successful treatment of NM would eliminate this threat and help Audrey live a full life.” She envisions a future where Audrey has “a greater ability to live independently and fewer obstacles in pursuing her dreams as an adult.”
Joining the NM Awareness Share-A-Thon
Driven by the desire for greater NM awareness, Audrey and her family are participating in A Foundation Building Strength’s NM Awareness Share-A-Thon this month! This unique fundraiser is like a “Fun Run” for social media. Supporters pledge a small amount for every share of AFBS’s special daily Share-A-Thon content on Facebook and Instagram throughout the last week of May (Monday, May 26th – Saturday, May 31st).
Audrey will be asking her friends and family to pledge towards NM research for every share. You can support Audrey’s fundraising efforts and help her reach her goal of $1500 by making a pledge on her personal fundraising page here.
Want to get even more involved in the Share-A-Thon? You can create your own fundraising page and encourage your network to participate! Find out how here.
Make Every Share Count This May!
And most importantly, help make every share count! Starting Monday, May 26th, watch for AFBS’s special daily NM Awareness content on Facebook and Instagram and share it widely. Your shares will not only spread crucial awareness but also help turn pledges into vital funding for groundbreaking NM research!
Let’s rally around Audrey and the entire NM community this May!