As many of you know, my friend Sharon's daughter, Liv, was diagnosed with Nemaline Myopathy (NM) at 7 months old. NM is a rare neuromuscular disease that makes basic life tasks such as breathing, swallowing, coughing, sitting and walking difficult, if not impossible.
Liv just turned 8 years old and remains a silly, sassy and determined little girl. Despite her immense challenges, she faces each day with a smile, looking forward to making her brothers laugh, playing with her friends, and doing anything involving the Dodgers!
However, Liv's life is markedly different than most children her age. Although Liv has continued to slowly gain strength, at age 8, Liv lacks true independence or ability to move on her own. Liv still cannot get up from a chair, stand or walk without assistance. She fatigues easily and can't keep up with her friends. Liv still needs a feeding tube for some of her nutrition and her oral weakness causes speech difficulties. Liv cannot cough forcefully enough to clear her lungs so a minor cold could be life threatening for her. Life expectancy for those living with NM is greatly reduced due to respiratory complications.
After almost losing Liv when she aspirated on a plane 3 years ago, her family had no choice but to think about the devastating reality of her disease. Liv worked incredibly hard to regain her strength and continues to work tirelessly through daily therapies. As she gets older, she is more aware of her differences and her frustration with the limitations of her body.
A Foundation Building Strength continues to fund ground breaking proposals to move us closer to giving Liv a better life. This year we are raising money to fund year two of Dr. Vandana Gupta's investigation into the root cause of weakness in people with NM. This past year, she found a mechanism by which Kelch proteins, a specific protein in muscle, regulates the stability and function of skeletal muscle. Dr. Gupta has created zebrafish models with a similar genetic code to humans with NM. The fish with NM show weakness by swimming very slowly or not at all. When Kelch proteins are absent, the fish were slower and weaker. She discovered that by reducing the toxic proteins by increasing Kelch protein in the fish, they swam faster and longer, demonstrating improved muscle function. This groundbreaking development could drastically change Liv's life.
Research for treatment remains our only hope of providing Liv with a longer and healthier life.
Please join me in raising funds for desperately needed research! See you on a bike.
Just a small donation will go a long way to helping me meet my goal the LoveLiv Cycle for Strength fundraiser.