This Family Wants to Save Their Daughter’s Life. They Need 4 Million Dollars.
Our sweet six-year-old daughter, Mila, was just diagnosed with Batten Disease – a rare, devastating neurodegenerative disease. We're still waiting to find out if our young son, Azlan, also has this genetic disease. Mila has lost her vision and much of her ability to walk and talk. But her spirit and laughter are still strong. She is a fighter. As of yet, there is no cure for Batten Disease. However, recent clinical trials have proven to halt or significantly slow degeneration of the disease giving families like ours HOPE.
Family organizations in the Batten community have been pivotal in funding scientific discoveries and clinical trials, but none is specifically targeting the variant afflicting children like Mila. We want to do our part and raise $4M to fund research and start a clinical trial to halt degeneration in children facing Mila's type of Batten. Our hope is that scientific advances we fund will also help Batten Disease as a whole, and can be used to combat additional rare diseases affecting hundreds of millions of people worldwide.
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What is Batten Disease? Children and adults with Batten disease have inherited genetic material from their parents that may take some years to come to bear in their everyday lives. And when it does, families are often in shock when they learn how a normal child or adult (Kufs form) could change quickly, and without seeming cause. Regardless of where your loved one is in the progression of Batten disease, BDSRA wants you to know there is a community of people like you learning about and coping with this life-limiting illness.
Batten disease is one of approximately 50 diseases called lysosomal storage disorders (LSD), meaning that genetic mutations disrupt the cells' ability to dispose of wastes. With Batten disease, cells are thrown out of balance with the build-up of proteins and lipids (fats).
Because of these damaged cells, patients with Batten disease suffer progressive neurological impairment, which includes:
- Visual impairment/blindness
- Personality and behavior changes
- Loss of motor skills and the ability to walk, talk, and communicate
Because of widely varying genetic mutations, the arc of Batten disease can vary tremendously for each person. Sadly, until more strides are made in research, treatments, and cures, Batten results in an early death of our children and adults.
Though recent improvements in genetic testing have made diagnosing Batten disease much quicker and more reliable, families tell of very long diagnostic journeys, often years after the first signs of seizures or loss of sight. In a recent needs assessment completed by BDSRA, more than 30 different diagnoses were reported by families before the final Batten diagnostic determination. Autism, seizure disorder, epilepsy, PDD, and others are common early diagnoses.
Thank you for helping give our family and many others hope,
Julia, Alek, Mila & Azlan
Mila's story was originally shared with us on Facebook.