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 7 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. At age 7, Liv lacks any 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. This is something we try not to think about often.
After almost losing Liv when she aspirated on a plane 2 years ago, we had no choice but 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 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 a CRISPR/Cas9 (gene editing) study dealing with Liv's exact mutation (axon 55 of the Nebulin gene). James Dowling of Hospital for Sick Children,Toronto, will use these cutting edge gene editing techniques to reintroduce exon 55 in cell culture and then mouse models. Additionally, we hope to fund a large scale natural history study so that when treatment is viable, we are well positioned for regulatory approval.
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.