I’m not really sure how it happened so fast, but we are just about to celebrate a Texas Thanksgiving in 2019. Three years ago, Matt and I were living in Tucson, AZ. We had two great jobs that we loved, four healthy kids who we loved more, and not a single idea that in two months time our world would be turned upside down by a rare disease called Batten, CLN7.
Very soon, our youngest son Joseph would suffer his first seizure on a lazy Sunday afternoon, just after we had taken him skiing for the first time. Within a few weeks we would be told to make end of life plans for him, and after a series of unfathomable circumstances, we would begin a long and unpredictable journey in pursuit of a cure for a disease that we didn’t yet know existed.
If you had told us then that within one year Joseph would no longer see his Christmas train, that in 18 months he would receive his first wheelchair, or that in two years time we would no longer hear his gravely little voice say our names, or say “I love you” – I don’t think we could have believed you. His personality was so strong, his joy so present, and his light, so very bright. But this is the reality of the more than 7,000 rare diseases that affect millions of children like Joseph, and as with thousands of other children fighting Batten disease, this is our reality.
With all of this hardship and loss, what then is there really to be thankful for? Very simply, we are thankful for today.
Despite all of the abilities that Joseph has lost, and all of the heartache that comes with letting go of our ideas for his future or for ours, something incredible has taken shape. Joseph, at 7 years old and 37 lbs, has changed the world in larger ways than we could have ever imagined for him.
And he has changed us.
Joseph’s personality has been the kindling for a firestorm of fundraising and rare disease advocacy for Batten disease. With the amazing support of his community, he has inspired enough hearts to join us in the work to fund the development of a drug designed for a CLN7 gene therapy clinical trial. The development of this milestone has been filled with hope and heartbreak, taking longer than we had imagined, and filled with obstacles we could not foresee. But it has also filled our past 3 years with community, kindness, and now the possibility of a new outcome for the children of Batten, CLN7. We are doing this, and it is because of Joseph.
The loss of his abilities to see and speak, or run and play, did not steal Joseph’s joy. His laughter is now the coveted prize of a brother willing to take goofiness to the next level to get a good belly laugh out of him. His big grin is proof that there is no sister funnier than the one in the throws of a good tantrum or a hearty disappointment (after all, he still has his brotherly duties of dishing out a little sister-torment). And there isn’t a person Joseph meets, who is not changed by the joy radiated from his smile, his laugh, or the sparkle in his eyes. Joseph is the living essence of pure joy, and he is purely present in the moment of now.
We often reflect on what this journey has taught us and where he has brought us, through the depths of loss and pain that served as the foundation for something more magnificent that we could have ever constructed on our own. No, his light has not faded for us. He is still shining brighter than ever, as a beacon of possibility to help the world find hope, to inspire us to stay focused on the next step, and above all to be thankful for the now, together.
Wishing you joy – and Every. Day. Awesome.
Gina
Thank you to all of our friends, champions, advocates, and partners who have brought us so close to a treatment for Batten, CLN7. Today, Batten Hope is working to close the final $200,000 of funding needed to complete the drug development for clinical trial, the next few months are critical – your continued prayers and support are so greatly appreciated. You can follow Joseph @battenhope on facebook and instagram.
