My Story 

My name is Harneet and I was diagnosed with Nemaline Myopathy at the age of 3. As a toddler, my mom noticed that when I would fall while walking, I wouldn't stand back up, which led her to take me to a paediatrician who said it appeared I might have a muscular problem. At 3 years old, I had dental surgery and because doctors didn't know about my condition, I didn't wake up from the anesthesia for three days. This is when it was determined I wasn't getting enough oxygen when I slept, and needed mechanical ventilation to help me breathe when sleeping via a BiPap machine with a mask that goes over the nose and mouth. Some time thereafter, I had a muscle biopsy that led to a Nemaline Myopathy diagnosis. 

Nemaline Myopathy is a rare, genetic muscle disorder that primarily affects skeletal muscles, which are muscles that the body uses for movement, and can also affect other organs and body systems. Muscle weakness (myopathy) is typically most severe in the muscles of the face, neck, core, and other muscles close to the centre of the body (proximal muscles), such as those of the upper arms and legs. Weakness of the muscles of breathing and swallowing are major causes of morbidity and mortality.

As I grew older, I slowly began losing my ability to stand up on my own and walk long distances. I had to use a manual wheelchair, and eventually transitioned to a power wheelchair at the age of 7 as my disease progressed. Throughout the past 25 years, I have undergone a total of 13 surgeries/procedures, numerous treatments, blood tests and scans, as well as countless hospital stays. At the age of 18, my respiratory muscles had become so weak that I was constantly out of breath and working extremely hard to breathe, sometimes becoming lightheaded. I then had a tracheostomy placed, a tube inserted into the trachea and connected to a ventilator 24/7 to save my life. Most recently, my stomach and intestinal muscles have become weak, leading to difficulties in digesting food, and I had a gastro-jejunal feeding tube placed that allows me to receive nutrition directly into my intestine. 

Despite the challenges, I live a happy and full life, enjoying every moment. I am currently studying in university and working hard to achieve my goals, while cherishing time with friends, family, and my fur baby! 

Support Us

Nemaline Myopathy is a rare disorder, which means little attention is given to the disorder in terms of research. A Foundation Building Strength is currently the only organization focused exclusively on Nemaline Myopathy research to find treatments. Please help me support A Foundation Building Strength in their goal to help individuals living with Nemaline Myopathy by making a donation. The process is fast, easy and secure. Thank you so much for your support and please don't forget to send this page to any friends you think might be interested in donating!