Twenty years ago, just around this time of the year, our little boy David began to lose his vision. Little did we know at that time both mom and dad has passed on to him a defective gene that would slowly rob him of life. On October 22nd, 2009 David’s battle with Batten Disease came to end. Exhausted from fighting an unbeatable foe, surrounded by his mom and dad and two brothers, David took his last breath and left this world for a better one. No more blindness, no more seizures, no more wheelchairs, no more diapers, no more medications, no more inability to communicate his feelings or ideas. He was now free.
When David was alive we often struggled with an overwhelming sense of hopelessness knowing we were fighting an unbeatable foe. I can remember hearing the words from Dr. Wisnewski, “Your son has Neuronal Ceroid Lipofuscinosis. It is untreatable and fatal.” In her brief message she handed us David’s death certificate all filled out except for the date of his death. Every loss David experienced was a painful reminder of this horrifying reality.
Though out the years we would read of new research studies that were using mice or dachshunds to study the disease. They could replicate the genetic abnormality in these animal models giving them an effective way to study how the disease affected the brain. Sadly, I still struggled having hope they would find a cure. We read of enzyme replacement studies and stem cell research. And while I wanted to believe there would one day be a cure, I have to honestly say I still struggled having hope there would be. Wanting to believe and have hope, we financially supported the Batten Disease Support and Research Association knowing that they were committed to finding a cure for this hellish disease. Would there ever be a cure?
A week ago today I opened my email and found the following press release from the US Food and Drug Administration:
FDA Approves First Treatment For A Form Of Batten Disease
The U.S. Food and Drug Administration today approved Brineura (cerliponase alfa) as a treatment for a specific form of Batten disease. Brineura is the first FDA-approved treatment to slow loss of walking ability (ambulation) in symptomatic pediatric patients 3 years of age and older with late infantile neuronal ceroid lipofuscinosis type 2 (CLN2), also known as tripeptidyl peptidase-1 (TPP1) deficiency.
The impossible is now possible. What once seemed hopeless is now filled with hope!
I’m not sure what you are struggling with today but my word of encouragement is to never give up being hopeful. Never! Sometimes we just have to be patient.