Batten disease is a rare and fatal neurodegenerative disorder with no cure. But recent breakthroughs in clinical trials offer hope.
What is Batten Disease?
Batten disease is a rare and fatal neurodegenerative disorder that usually begins in childhood. It is the most common form of a group of disorders called Neuronal Ceroid Lipofuscinosis (or NCLs).
The forms of NCL are classified by age of onset and have the same basic cause, progression and outcome. However, the forms of NCL are all genetically different.
How does this disease progress?
For the first few years of life, affected children appear to be healthy and to be developing normally. Initial symptoms may be apparent before the child starts school, but in some children the symptoms might not develop until after school entry.
Over time, children affected by Batten disease suffer mental impairment, worsening seizures, and progressive loss of eye sight and motor skills. The progression of the disease differs from child to child. By the time some children are six, they will be completely dependent on their families and caregivers for all their daily needs. Other children will lose their walking and talking skills much later. But eventually, all children with Batten disease/NCL become blind, bedridden, and unable to communicate.
Death usually occurs in childhood or during the teenage years.
How many people have these disorders?
Batten disease/NCL is relatively rare, occurring in an estimated two to four of every 100,000 births in the United States. The diseases have been identified worldwide. Although NCLs are classified as rare diseases, they often strike more than one person in families that carry the defective gene.
Science behind the Batten Disease
In Batten Disease, a simple gene mutation prevents cells from breaking down fats and proteins, leading to a build-up in the cells' trashcans, or lysosomes. This build-up results in cell death and the body’s inability to function normally. The condition is autosomal recessive, which means that both parents must carry the same gene mutation in order for their children to develop the disease. Although NCLs are classified as rare diseases, they often strike more than once in families that carry the defective gene.
There are fourteen known variants of Batten - CLN1, CLN2, and so on - and each is unique enough to require its own research and trials. While great strides have been made over the past few years, there is still much to be understood about Batten as a whole.
Is there a cure?
As of now, there is no cure. But Gene therapy now offers a path to cure.
What gives us hope to fight to beat Batten?
Recently, clinical trials for related NCL have shown success in halting or significantly slowing the degeneration process. At the same time, research has progressed significantly in recent years towards finding a cure for Batten. We hope to join other families in this battle and to make a positive difference in that progress. NO PARENT SHOULD HAVE TO GO THROUGH WHAT WE ARE GOING THROUGH. PLEASE HELP US BEAT BATTEN for Aashi and other children who have this devastating, deadly disease!!!
Aashi's Hope Foundation is fundraising through Mila’s Miracle Foundation to Stop Batten. All donations will go through their fiscal sponsor, Creative Visions Foundation, a 501(c)(3) nonprofit organization. All donations are tax–deductible.