OUR HISTORY

The story of “Finding Hope for FRRS1L” began with a FRRS1L support group on Facebook where parents connected with other families around the world with children diagnosed with FRRS1L gene disorder. They acted as their own research forum as parents asked and shared what was happening to their child, what medicines they were trying, and ultimately if anyone had found anything to help. Although it was encouraging for parents to not feel alone on this confusing road of regression, there was also disappointment and some hopelessness as no one had found anything that worked against this devastating disorder.

Then in July 2021, three moms of FRRS1L kids (Viviana, Chrissy, and Christina) decided to organize to help find a cure for their kids. They met with a gene therapist doctor, Dr. Minassian, and the founder of Rare Village on a zoom call. It was this life changing call that lit a match of hope that turned into a fire! Dr. Minassian presented findings from a German research study, which showed mice with FRRS1L disorder that had gene replacement therapy not only regained function, but even showed cell regrowth. These were shocking and exciting results. All three moms had tears of joy and hope. This meant there was real hope that gene replacement therapy could work as a treatment to cure FRRS1L gene disorder. It meant children of all ages with the disorder had hope for cell regeneration and healing. Dr. Minassian conveyed to the parents that he not only wanted to work on developing treatment, but he wanted to do it as soon as the  funds could be raised for it. To have a top gene therapist excited and hopeful about working on your child’s genetic disorder was shocking, exciting, and life changing. 

Children with FRRS1L genetic disorders are always regressing, so there was no time to lose. The three founding moms, Christina, Viviana and Chrissy, spent the next 3 weeks organizing, building a fundraising page, and mobilizing other families in the Facebook support group to start fundraising the $400k required to fund the development of treatment for a cure. On the morning of August 22nd, the fundraising web page went live and parents started spreading the word with family and friends via email and social media. The initial goals were to raise the first $100k in 30 days, and the remaining amount by the end of 2021. 

The response was amazing. Immediately a gift of $10,000 came in. Throughout the day many more gifts came in and the first $100k was raised in less than 30 hours! Before the end of the first week of fundraising the campaign was nearing 50% of the total $400k goal to fund the treatment project. 

The ability to raise the support needed has come from all the FRRS1L families working together to share the stories of struggle for their child, but even more so from their hope for finding a cure. The pain and loss from watching a child suffer with FRRS1L disorders impacts broader networks of family and friends, so when news of hope for a cure was shared, the outpouring of love, support, and generosity was unbelievable. It has truly been a story of Finding Hope for FRRS1L, and this is just the beginning.