Amy: What exactly is CRB1 degenerative retinal disease and why should people care about this ultra rare disease that only affects 300 children in the U.S.?
Kristin: My husband, Mike and I have two sons and a daughter. Our two boys, Michael (age12) and Mitchell (age9) have a very rare blindness called LCA-CRB1. It is basically an extremely severe form of retinitis pigmentosa. They have been almost completely blind since birth. What little vision remains is slowly deteriorating every year and will land them in complete darkness soon if no treatment is found. They cannot read print, they are Braille readers. They use a white cane to travel safely. They will never drive a car.
Amy: Are your sons able to participate in extra curricular activities and if so, what do they enjoy doing?:
Kristin: Despite the fact that they have less than 10 percent of the vision of a typically sighted child, my guys play all the "regular" sports in our town near Philadelphia. Now in 7th grade, Michael is the starting center for his middle school football team. They swim, wrestle, play football, baseball, and Michael was even on the dive team last year. In addition to sports, they are incredibly gifted in music too… and Michael's new rock band won our town talent competition this summer.
While they don't let their blindness stop them from trying anything, the blindness sadly does get in the way of them experiencing many things they are intersted in and it is beginning to limit what they can safely participate in. Michael is stuck at Center in football. Even though he'd love to try quarterback, he cannot see the receivers and more importantly, he cannot see someone coming at him to tackle him. Mitchell was a phenominal soccer player and goalie when he had a bit more useable vision, but it has deteriorated to a point that it just isn't safe for him to play now. And while the boys have a true love for riding their bikes, they don't have enough vision to ride alone around the neighborhood or at the local park, not even at the most popular kids' bike event in our county that they themselves started! Perhaps the saddest and most frustrating for their Dad and I is knowing that Michael played his last baseball game this past June. It is both the boys' favorite sport, but the accommodations that are made for them just cannot continue as Michael is getting older…. and safety is an issue now too with the ball being hit and thrown so hard.
Amy: What is one of the most difficult things about your sons' illness?:
Kristin: The boys are missing out on beautiful things in their lives. They cannot see the team and they crowd leap to their feet when they hit the winning run. They cannot see their audience give them a standing ovation after the final song. Michael cannot see the girl that is interested in him smiling at him. They cannot see friends waving to them. Hardest one for me, their mom, is the fact that they cannot see my face light up when they enter the room.
Amy: Is anyone working on a cure for CRB1?
Kristin: Perhaps the most frustrating of all is the fact that there are so many advances being made in vision research now… but those are coming first to the millions affected by the "popular blindnesses", not the rare ones. My guys' CRB1 genetic disease affects only an estimated 300 kids in the United States. I have found 19 other families affected and we are all working to raise the funds to direct the research to our CRB1 gene and bring it to treatment to stop the degeneration of the vision cells and ultimately restore the sight of every child affected, SOONER rather than later. Our kids lose precious vision cells every day. Treatments are out there and working for the popular blindnesses… we are working to make them available for our rare one.
It is empowering, yes, to take on this project and raise the funds to direct the research. But, as so many parents of rare disease kids know too well, it is exhausting to add this mission to the already packed days of learning all the tools you need to get your rare disease child through a day. I had to learn Braille. I had to learn accessible technology. I have to stay on top of what my boys need in their education, learn the education laws and fight to get what my guys need. I have to find the right people to enact laws to be sure my boys can hear the quiet hybrid cars so they can safely cross a street. I have to find alternate ways for the boys to do just about everything in a day, and ultimately prepare them to be able to do everything independently, on their own one day.
Amy: What can people who are moved by your family's story do to help?
Kristin: Families dealing with rare diseases need collaboration and cooperation. The CRB1 families believe Helen Keller said it best: Alone we can do so little. Together we can do so much.
A few years ago, Amy Malin of Trueheart Events became aware of a major healthcare issue that affects 30 million Americans (10% of U.S. population, 50% of which are children) and 350 million people worldwide. That’s more than all cancers and AIDS combined. The healthcare issue is “rare disease." There are over 7,000 different types of rare diseases. Fewer than 5 percent of rare diseases have a single approved drug treatment, leaving tens of millions of people without hope.
That's why she is bringing us these in-depth interview installments, to spread the word and to help… and to put faces to things most people never have to witness.