The diagnosis of a rare genetic disease like merosin-deficient congenital muscular dystrophy (LAMA2-CMD) inevitably turns a family's life upside down. It is from this personal experience, the need to understand, and the determination to act, that the nonprofit organization "Emily's Future is Now" was born in early 2024. Founded by the family of Emily, a young girl affected by this disease, the organization ideally serves all the boys and girls affected worldwide, setting ambitious and concrete goals.

The heart of "Emily's Future is Now"'s work is focused on several areas. First and foremost, the association is actively dedicated to identifying and disseminating accurate and up-to-date information on LAMA2-CMD muscular dystrophy, a genetic condition characterized by the absence or deficiency of the protein laminin-alpha 2 in muscle tissue. This deficiency causes progressive muscle weakness, motor problems, and, in some cases, nervous system involvement.

In parallel, the organization aims to raise awareness of this rare form of muscular dystrophy, seeking attention and support through long-term information campaigns. The goal is to raise awareness of the reality of those living with LAMA2-CMD and the challenges they face on a daily basis, from mobility difficulties to complex medical needs.

A crucial aspect of “Emily's Future is Now” activity is the fundraising. Through the organization of events, demonstrations and other initiatives – like the one you see on the poster -, the association is committed to finding economic resources to be allocated primarily to scientific research. A particular focus is on BIOZENTRUM of the University of Basel and the start-up SEAL Therapeutics AG, a cutting-edge reality in the study of innovative therapies for genetic diseases.

The association's commitment goes beyond financial support for research. "Emily's Future is Now" also serves as a bridge between patients and the pharmaceutical industry , with the aim of stimulating companies' interest in developing effective treatments and, hopefully, a cure for LAMA2-CMD muscular dystrophy.

Another key pillar is promoting the social integration of patients with this form of muscular dystrophy. The association works to raise awareness of their needs and foster an inclusive environment that allows them to actively participate in social and community life.

Finally, “Emily's Future is Now” looks beyond national borders, promoting the exchange of information and collaboration with other European and global associations dedicated to congenital muscular dystrophy due to merosin deficiency. Sharing experiences and knowledge is seen as a valuable resource to better address the challenges related to this rare disease.

Emily's story, told daily with touching sincerity by her parents , is the driving force behind this initiative. From the joy of her birth to the first signs of developmental delays, from initial doubts to the long and complex diagnostic process, up to the devastating confirmation of LAMA type 2 muscular dystrophy. A journey punctuated by uncertainties, moments of despair, but also by resilience and meaningful human encounters. Emily's daily routine, filled with therapies, medical checkups, and the use of assistive devices, contrasts with every child's universal desire to run, play, and move freely.

Despite the challenges, Emily's family draws strength from her smile and lively intelligence, cultivating a tenacious hope for the future. The knowledge that scientific research can one day make Emily's dream of walking a reality is what drives the commitment of "Emily's Future is Now".

Congenital muscular dystrophy due to merosin deficiency is a rare genetic disease caused by mutations in the LAMA2 gene. Diagnosis is based on clinical observation, specific tests such as muscle biopsy and genetic analysis. To date, there is no cure, but research is making important steps.

“Emily's Future is Now” invites anyone who is sensitive to this cause to offer their support. Every contribution, even the smallest, can make a difference in the path towards discovering effective therapies for LAMA2-CMD muscular dystrophy and to improve the quality of life of many children like Emily.

To support “Emily's Future is Now”:
Postal Account: CH9380808003781981773 Email: emilysfuture@bluewin.ch