L-CMD is a severe form of childhood muscular dystrophy. It typically results from a de novo (non-inherited) mutation on the LMNA gene which encodes for proteins lamin A and lamin C. These proteins are important for the integrity of the nuclear membrane in all cells in the body.

L-CMD manifests as skeletal muscle weakness, extreme physical disability (like weak neck and torso muscles), weakened lung capacity, scoliosis and hyperlordosis, and cardiac problems.

While average life expectancy continues to lengthen due to interventions such as feeding tubes, breathing support, implanted heart defibrillators, steroids and generally staying healthy, there are no true treatments and no cure.

Mark and Hannah started the L-CMD Research Foundation in 2020 after their younger son, Austin, was diagnosed at 6 months old. The Foundation urgently seeks to translate current medical and scientific technologies into effective treatments - and ultimately a cure. Since inception, the Foundation has raised over $2MM with the donations of a huge network of generous supporters. The Foundation has partnered with academic, biotech and contract research orgs to launch and/or fund over 10 projects - including everything from looking into already approved drugs that may have benefit for L-CMD to gene therapy to create a healthy version of LMNA.

THANK YOU for being part of this rare disease success story. The implications of this science could change the world and it will be because of the generosity of everyone, like you, who sees the light and joy in Austin and each of these children living with this life-shortening and limiting disease. We are so hopeful.

Bake Sale 2024

By L-CMD Research Foundation

Bake Sale 2024