In this guest blog, Denise Ganley from Muscular Dystrophy New Zealand Northern shares her personal experience of living with Limb Girdle Muscular Dystrophy (LGMD), from her diagnosis to the importance of independence, connection and maintaining a positive outlook.
Denise's Story
Limb Girdle Muscular Dystrophy (LGMD) Awareness Day is recognised each year on 30 September. There are over 30 different subtypes in this group of conditions, some of which are dominantly inherited (one parent carries the faulty gene) and others like mine, which are recessively inherited, where both parents unknowingly carry the faulty gene, and there is a 25% chance of passing on the condition.
My original diagnosis at 18 years of age took quite some time, as there was no family history and genetic testing wasn’t as comprehensive as it is now. Consequently, it took a further 21 years to get a confirmed diagnosis showing that I have LGMD 2A/R1 Calpainopathy. This is the most common of the recessive LGMD’s, but it's still rare.
My first symptoms were difficulty in running and climbing stairs, but as this is a progressive condition, I’ve had to adjust to the constant loss of function and mobility. This has meant giving up driving, using a power wheelchair and being reliant on others for assistance with things like showering and dressing. I can no longer walk or stand independently, and this loss of independence means constantly adjusting to changing conditions. Despite these challenges, I think it’s important to keep a positive mindset, and I do try to take opportunities as they come along. I love travelling and have been lucky enough to travel overseas extensively with my partner and two daughters (now in their 20’s).
I currently work as the Member Services Manager for the Muscular Dystrophy Association of NZ, a job I love because I can connect with members from across the country. In a rare disease community, connections are important, so people don’t feel so isolated. I’m also hopeful that treatments for many conditions are finally getting closer, and there are plenty of clinical trials happening right here in NZ.
Further Information and Support
For more information about Limb Girdle Muscular Dystrophy (LGMD) and other neuromuscular conditions, including helpful resources, support services and ways to connect with others, visit Muscular Dystrophy New Zealand.
Written by Denise Ganley
Denise is the Member Services Manager for Muscular Dystrophy New Zealand Northern. Living with Limb Girdle Muscular Dystrophy (LGMD) herself, Denise brings both personal experience and professional insight to her role, supporting and connecting people living with neuromuscular conditions across New Zealand.