Together in the Battle Against Batten
Rishi and Hemaxi’s life changed when they noticed early signs of neurological disease in their daughter Aashi. The family is dedicated to beating Batten disease is the common name for a broad class of rare, inherited disorders or diseases of the nervous system also known as neuronal ceroid lipofuscinoses, or NCLs. In these diseases, a defect in a specific gene triggers a cascade of problems that interferes with a cell’s ability to recycle certain molecules. The disease has several forms that share some of the same features and symptoms but vary in severity and age when symptoms first begin to appear. Each form is caused by a variant in a different gene. Although “Batten disease” originally referred specifically to the juvenile-onset form of NCL, the term Batten disease is increasingly used to describe all forms of NCL. The disease ultimately leads to shortened lifespan. and spreading awareness.
Together in the Battle Against Batten: Genetic Testing Advances for Diagnosing CLN7 Subtype of Batten
Aashi brought love and light to her parents’ world when she was born in 2012. Rishi and Hemaxi recall that Aashi reached all of her childhood milestones early, and she explored her surroundings with energy. Aashi’s liveliness extended to her personality too. She was an outgoing social butterfly.
Around age three, Aashi began to lose some of the skills that had previously come very naturally to her. Her speech became slurred, so Rishi and Hemaxi took her to a speech therapist. Next they noticed that her walking looked wiggly. Her feet would move around more than usual, and she would spread them farther apart.
When she reached about three-and-a-half, Aashi began to fall more and struggled to run and jump. Rishi and Hemaxi worried that something more serious was causing this decline in walking and other gross motor functions.
Aashi’s family consulted neurologists and geneticists who asked them about seizures and vision problems. Rishi and Hemaxi hadn’t observed either of these at this point, but the neurologists’ EEG tests revealed abnormal brain activity. Aashi was having 2 to 3 second seizures in her sleep.
Gradually, the root cause of Aashi’s symptoms was beginning to reveal itself. But it wasn’t simple.
At age four, Aashi was diagnosed with epilepsy and prescribed medications to help manage her seizures. Along with the seizures, Aashi’s gait and speech continued to worsen. They returned to the geneticist, requested a diagnostic genetic test, and learned the diagnosis. Aashi has Batten disease in the form of late-infantile CLN7.
Aashi’s name is Sanskrit for “smile,” an ability that she has not yet fully lost. This helps Rishi and Hemaxi to remain hopeful during these stressful years of fighting for their daughter. “We are still learning, still trying to make the best out of this diagnosis,” says Rishi. Aashi celebrated her seventh birthday in 2019. She has lost nearly all of her motor skills. Rishi and Hemaxi help Aashi sit, eat pureed food, and move around her house in a wheelchair. The process of getting equipment like a wheelchair is longer than many people, including Rishi and Hemaxi, realize.
“We are still learning and trying to make the best out of this diagnosis.” – Rishi
To help manage her disease symptoms and progression, Aashi goes to occupational and physical therapy once a week. She has tried hypnotherapy in the past, but now she goes to A type of therapy invented by Dr. Masgutova that uses reflex patterns to awake an individual’s sensory-motor memory in order to self-restore impaired functions such as ability to walk, see, hear, remember, and regulate emotion. therapy, which her parents report helps calm her. They’ve also had a bit of success with robotech therapy, where Aashi stands on a machine similar to a treadmill and practices walking with support.
Aashi’s vision is limited to lights and shadows. Although this ability was the second to decline after her walking, she continues to enjoy watching and listening to the movie Frozen, like many other seven-year-olds. Finding other families with CLN7 has been challenging for Rishi and Hemaxi; the family foundations have helped connect them to others so that they feel less isolated as they navigate this rare disease. They want other families to think about the future, even when it is difficult.
Rishi and his family are optimistic about research, and being Aashi’s parents commits them to making progress with the disease.Batten Patient Stories Overview