Patient Worthy recently had the privilege to view a selection of short films about rare disease at Biotech Week Boston. These films highlight the stories of families and patients as they struggle to create a better life and world for their respective communities. These works are not for the faint of heart and bring home the immense challenges that rare disease patients and their loved ones face on a daily basis.

We were able to sit it on the first track of films which included those listed below:

1. Miracle Man: This films features the story of J.J., a five year old living with an extremely rare condition called CHAMP1 that was only discovered in 2015. Despite the difficulties, J.J. consistently defies the dire predictions of his doctors.
2. Cure Darian: Darian lives with the lethal genetic disorder GM1 gangliosidosis. Like with many other fatal genetic diseases, it’s a race against time to develop a treatment or cure that can start saving the lives of patients. Most GM1 patients don’t live past age ten.
3. Menkes Disease: Finding Help and Hope: Menkes disease prevents its male patients from being able to metabolize copper. The patient has a chance if treated within the first ten days of life, but Menkes disease is not easy to diagnose. This film explains the basics of the illness while also telling the stories of three affected families, who demonstrate that this disease doesn’t get to ruin their happiness.
4. One Shot to Live: Gene therapy might be the key to treating a wide variety of rare genetic disorders. The sense of urgency in implementing and developing gene therapies is overwhelming, as every step could be the key to saving an entire generation of patients. In this film, patient families work hard to make progress while cherishing each day.
5. FAM177A1 Charlotte and Cooper’s Diagnostic Quest: With only a handful of known patients, siblings Charlotte and Cooper are among the rarest of the rare. Their parents are on the search to find other patients like them who may be undiagnosed.
6. Tess is Not Alone: A USP7 Story: After Tess’s family made a frantic search for a diagnosis online, they ultimately learned that she is one of only eight confirmed patients living with USP7. They took action by establishing a foundation and connecting with other patients.

For more info on the films, click here.